Springer Nature: Recent Episodes
Springer Nature
Welcome to the Springer Nature Soundcloud page! Here you will find several podcasts from our journals across a range of scientific subjects, including Gene Pod, ModPath Chat, Pediapod, Hereditypod and Brainpod.
In this episode, Geoff speaks to Early Career Investigators, Dr. Kazumasa Zensho from the University of Okayama, Japan. They discuss his recent paper, 'Umbilical cord blood markers predict neonatal hypoglycemia in full-term small and large for gestational age infants'.
This episode features a conversation with Professor Diana Bianchi, former Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), who is noted for her pioneering research on non-invasive prenatal testing (NIPT).
Insomnia and depression are two serious and debilitating conditions. Insomnia on its own is linked to an increase in suicide risk, and insomnia can also exacerbate the severity of depression.Andrea Goldstein-Piekarski, assistant professor in the department of psychiatry and behavioral sciences at Stanford, and Adam Krause, post-doctoral research fellow in Stanford’s psychiatry department, are two of the authors of a recent study in the journal Neuropsychopharmacology. Cognitive behavioral therapy for insomnia, or CBTI, is the gold standard for treating insomnia, and it’s been shown to relieve depressive symptoms as well.Read the full study here: https://www.nature.com/articles/s41386-026-02431-0
We hear from Portia Wong and Paolo Momigliano about using samples seized from the illegal wildlife trade to inform the conservation of endangered pangolins.
In this episode, Geoff speaks to Early Career Investigators, Dr. Caroline Kelsey from the University of Illinois. They discuss her recent paper, 'Bidirectional relations between the maternal and infant gut microbiome and behaviour'.
In this episode, Geoff speaks to Early Career Investigators, Dr. Caroline Kelsey from the University of Illinois. They discuss her recent paper, 'Bidirectional relations between the maternal and infant gut microbiome and behaviour'.
A team from universities in Connecticut tell us about their use of pangenomes to examine the status of mink populations in Florida, and an innovative programme that's training the next generation of researchers.
In this episode, Geoff speaks to Professor Clifford Bogue who was President of the American Pediatric Society between 2024 and 2025, during which time the APS Issue of the Year centred on firearm-related injuries and deaths in children and adolescents.
There are a number of theories that have been studied to try to explain addiction and drug use escalation, and thus to also create animal models of that behavior that can then serve to help develop treatments. One theory for escalation is that people feel worse and worse over time and so they take the drug to feel better. Another is that they just don’t get as much of a reaction to the drug and so need more and more of it to get the euphoria. And then there’s something called incentive salience, which is a craving for the drug.Read the full study here: https://www.nature.com/articles/s41386-026-02350-0
Genetics Society Vice President Jonathan Pettitt discusses what Heredity's publication revenue is used for, and the scientific community benefits of publishing in society journals.
The Student Paper Prize for 2025 was won by Eléonore Lavanchy. Eléonore discusses her work, the winning paper and inbreeding in European Barn Owls.
This episode features a conversation with Professor Alistair Gunn at the University of Aukland, about his pivotal role in the preclinical development of therapeutic hypothermia as a treatment for hypoxic-ischaemic encephalopathy and its subsequent translation into routine care.
Episode 2/2 from the 59th Popgroup meeting in Lille. Plenary speakers Claire Mérot and Denis Roze discuss their experience of the conference and the content of their talks.
Oxytocin has become known for having anti-anxiety and affiliative behavioral effects. That’s why clinicians and researchers are excited about using oxytocin as a potential therapeutic. Brian Trainor is a professor at UC Davis, and his lab has been studying this complexity for the past decade. For an animal model, they work with a territorial, aggressive, monogamous rodent species called California mice. If the male is removed and the female is forced to defend their nest, she will experience what’s known as social defeat, and she will exhibit what’s called inhibited affiliative behavior, the type that can be affected by oxytocin — and this effect can be studied in a mouse’s brain.Read the full study here: https://www.nature.com/articles/s41386-026-02352-y
In this special episode, Geoff Marsh speaks to Pediatric Research's social media editors Damian Roland and Kikelomo Babata about how researchers can and should harness social media to increase the impact of their research. Transforming academic medicine through social media: why isn’t it working for me?https://www.nature.com/articles/s41390-025-04388-0
Episode 1/2 from the 59th Popgroup meeting in Lille. Plenary speaker Florencia Camus talks about her experience of the conference and the content of her talk.
In this episode, Geoff Marsh speaks to Dr. Satyan Lakshminrusimha about our Collection on Neonatal Resuscitation.
Cannabis, which is increasingly legally available, both for therapeutic and recreational use, is now one of the most commonly used drugs worldwide. Of people who have ever used cannabis, studies vary, but they estimate that about 10-25 percent of people who use cannabis go on to develop cannabis use disorder.Uri Bright is a postdoctoral associate at the Yale School of Medicine and is one of the authors of a recent study in the journal Neuropsychopharmacology on the genetics of cannabis lifetime use — which is anyone who has ever used cannabis even once. That’s a distinct population from people who have cannabis use disorder, as his colleagues had looked into in the previous study.
Reproduction involves decisions about when to mate and who with. We know that high temperatures affect fertility, but how does this affect mating decisions and sexual selection within populations? Tilly Pembury Smith and Rhonda Snook tell us about their work using fruit files.
Parasites and parasitoids are large drivers of evolutionary change. We hear from Peter Hambäck (Stockholm University) about his work on how beetle larvae combat a parasitoid wasp that wants to lay its eggs inside them.
In this episode, Geoff Marsh speaks to Dr. Steven Miller about our Collection on Epilepsy and Seizures.
We often hear that invasive species are bad for the ecosystems they invade, but the consequences can seem remote and hard to grasp. In this episode we hear from Nitin Ravikanthachari and Carol Boggs about their study system where an invasive plant has very tangible effects for a native butterfly.
Worry seems like something most people do from time to time, but for some people, severe worry can become an overwhelming sensation, and for older adults later in life, severe worry has been associated with an increased risk of stroke and coronary heart disease. Carmen Andreescu is a professor of psychiatry and bioengineering at the University of Pittsburgh School of Medicine. She says mild worry is useful evolutionarily, to help us make plans or adapt behavior.Read the full study here: https://www.nature.com/articles/s41386-025-02193-1
Listen to September's Pediapod episode: What's hot in pediatric AI research, with Brynne Sullivan.
Organisms are sensitive to temperature, but reproduction is likely to be affected at lower temperatures than survival. We're joined by Jessica McNeill & Caiti Smukowski Heil to talk about their work on meiosis in yeasts.
This episode features a conversation with Professor Bonnie Ramsey, a pediatric pulmonologist from Seattle Children's, who has dedicated her research and clinical career to treating patients with cystic fibrosis.
The genomes of organisms can tell us about evolutionary processes in the past - but can they also give clues about the future? André Yves and Fernanda Werneck tell us about their work on climate adaptation in Amazonian lizards.
Listen to July's Pediapod episode with ECI Katie Strobel, discussing her recent paper looking into the effect of early antibiotic exposure on necrotizing enterocolitis and growth in extremely preterm infants.
Many Anolis lizards have a sail of colourful skin on their throats which they use to communicate, but how does something like that evolve? Find out with researchers Renata Pirani, Carlos Arias and Mike Logan.
There’s been a fair amount of animal data suggesting that nicotine can affect the developing brain, but there hadn’t been the equivalent human studies done on people whose brains are still developing. And today there are two predominant forms of nicotine delivery - tobacco cigarettes, and e-cigarettes, or vaping.Laurie Zawertailo is a senior scientist at the Center for Addiction and Mental Health in Toronto and an associate professor in the department of pharmacology and toxicology at the University of Toronto. Kanwar Boparai recently completed her PhD, working with Dr. Zawertailo, and is now a postdoc. For their new study, they and some colleagues recruited young adults age 18-25, and these people fell into three groups: one that had only smoked cigarettes, one that had only ever vaped, and a third that functioned as a control, that had never used either. They ended up with 26 smokers, 27 vapers, and 25 controls. This is the first human study to separate cigarette smokers and vapers into distinct groups.Read the full study here: https://www.nature.com/articles/s41386-025-02086-3
Listen to June's Pediapod episode: What's hot in pediatric genetics research, with Stephen Kingsmore.
Biological invasions are a huge issue in contemporary biology. In this episode we hear from Teun Everts and Rein Brys, who are studying the American Bullfrog invasion of Belgium.
In this episode, Geoff Marsh speaks to Dr. Misty Good about our Collection on Necrotizing Enterocolitis.
Attention deficit hyperactivity disorder, or ADHD, is a common condition that, for a lot of people, is difficult to treat. The drugs that exist have a number of adverse side effects, and about 25 percent of patients don’t respond to existing drugs. And so a team of researchers in Iceland, led by Karl Karlsson, professor of biomolecular engineering at Reykjavik University, undertook a number of different steps to narrow in on and then test what the team has determined to be a novel treatment for ADHD, using an existing drug, amlodipine.
Frank Burbrink and Ed Myers talk about their recent work on American Racers. Spatial patterns, hybridisation and why the shapes of evolutionary trees might be more complex than we thought.
Continuing the recent theme of conservation genetics, we return to the sea with Marc Gose and Rob Ogden. They discuss their work on the white-beaked dolphin, and the importance of international collaboration to manage populations that span borders.
Draulio Araujo, professor at the Brain Institute in the University of Rio Grande Norte in Natal, Brazil, has been studying ayahuasca for more than 20 years. It’s a psychedelic plant used in rituals in South America that has also been researched for its potential to treat depression. The effects of ayahuasca can last for hours and also lead to side effects including vomiting and diarrhea. The active psychedelic drug in ayahuasca is DMT, and so Dr. Araujo and his colleagues decided to conduct the first test of DMT itself, which is also an endogenous chemical and has been demonstrated to be safe.Read the full article here: https://www.nature.com/articles/s41386-025-02091-6
This episode features a conversation with Senior Investigator Avroy Fanaroff, Emeritus Professor at Rainbow Babies and Children's Hospital and Case Western Reserve University School of Medicine, who has had a long and impactful career in neonatology.
Listen to March's Pediapod episode: What's hot in pediatric sepsis research, with Sarah Kandil and Eleanor Molloy.
Best student paper of 2024 winner Kate Rick, along with Brenton Von Takach and Kym Ottewell, discuss the use of genomics in Australian conservation efforts, and their study on the golden bandicoot.
New drugs that target the endocannabinoid system are being proposed for disorders that are usually characterized by the dysregulation of social processing, like social anxiety disorder and autism spectrum disorder. Researchers have been trying to understand the mechanisms for how these drugs work. Leah Mayo is assistant professor at the University of Calgary, and she’s one of the authors of a new study in the journal Neuropsychopharmacology in which they examined two aspects of the system. One is the endocannabinoid system itself. And then there’s another aspect of social processing called the C tactile system. Read the full study here: https://www.nature.com/articles/s41386-025-02053-y
Chérine Baumgartner and Andy Foote discuss working with orcas and their recent paper on diet and population dynamics in North Atlantic killer whales
Listen to November's Pediapod episode: What's hot in Pediatric Oncology? with Jeffrey Dome
Listen to January's Pediapod episode: What's hot in pediatric microbiome research, with Namasivayam Ambalavanan.
Listen to January's Pediapod episode: Conversation With Senior Investigator Karin Nelson
Katja Guschanski discusses working with mammal evolution, museomics and her plenary talk at Popgroup 2025
The scientific literature has shown that females demonstrate more aversion to risk-taking than males. Studies have also demonstrated that the basal lateral amygdala, or BLA, is a critical hub for processing risk and reward information. And yet further research has shown that activity in the amygdala differs between males and females, and that the expression of particular dopamine receptors called D2 receptors are greater in females than in males. The authors hypothesized that one mediating mechanism that leads to greater risk aversion in females is differential activity of dopamine in the basal lateral amygdala. Caitlin Orsini is an assistant professor in the departments of psychology and neurology at UT Austin.
Meet Heredity editor Bastiaan Star (University of Oslo), we talk about his work with ancient fish DNA and why he enjoys working with Heredity.
In this third episode, Dr. Niklas Lidströmer, co-editor of Artificial Intelligence in Medicine, tackles the complexities of ethics in AIM. He first discusses issues of safety and privacy when handling sensitive medical data, highlighting solutions like encryption, decentralized storage, and sharing algorithms rather than raw data. Next, Niklas addresses how bias and prejudice affect AIM, and the importance of recognizing how this can impact treatment. Last, he digs into transparency practices in AI decision-making, and the through line in data protection between AIM and librarianship.
In the final episode of this series, Dr. Niklas Lidströmer, co-editor of Artificial Intelligence in Medicine, looks at future trends of Artificial Intelligence in Medicine (AIM). Niklas covers major innovations ahead and their potential impacts on treatment and the patient and doctor relationship. In addition, he discusses the current global applications of AIM and his forthcoming title on Artificial Intelligence and the COVID-19 pandemic. Last, Niklas considers how librarianship will fit into the increased availability of medical data, including more advanced patron requests and co-authorship between librarians and researchers.
In this second episode, Dr. Niklas Lidströmer, co-editor of Artificial Intelligence in Medicine, discusses the benefits and challenges of AI in medicine. First, Niklas digs into how AIM allows for a progressiveness that could leave non-AI inclusive doctors behind. He also touches on the process of creating standardized, global practices for medical data processing, the significance of empowering the patient with their own medical information, and how AIM could transform the doctor-patient relationship for the better.
In this first episode, Niklas introduces his research and the inspiration behind his co-edited title Artificial Intelligence in Medicine, one of the first references works available on AIM. In addition, he provides an overview on how artificial intelligence is currently being used in medicine, and how AI can impact librarianship, such as in administrative support and citation use.
Genomics is about patterns, but finding them, or even knowing what to look for, is difficult. In this episode we talk to Noah Simon about the clever approaches he took to investigating the genomics of neuronal regeneration in mice.
In this four-part series, Bob discusses breaking down the complexity of sustainable living, the pitfalls of greenwashing, and why sustainability should be treated as a “no judgement zone.” In addition, Bob tackles complicated issues like corporate lobbying power and how income and race are inextricably linked to environmental policies.From metal straws to veganism, our choices impact the environment. But when large corporations make environmentally-damning decisions, it can feel like our choices don’t matter. How can we take back control in our own lives by building greener habits? Further, how does environmental racism and classism act as barriers toward making the world a more environmentally sustainable place?In this third episode, Bob Brinkmann, author of Practical Sustainability: A Guide to a More Sustainable Life, speaks to individual environmental responsibility in the face of corporate lobbying power, greenwashing, and generational apathy. Bob chats about the process and effectiveness of his Thirty-Day Sustainability Challenge, and the importance of representing sustainability as a “no judgement zone.” Last, Bob surfaces the national and global issues of environmental racism, and how communities can enact greater change through municipal appointments and local economic investments.
Human activity has undoubtedly impacted our planet’s systems. With deforestation, air pollution, and plastic waste, can we still call the natural sciences “natural”? Or have humans changed the planet so much that the “natural” and “human” worlds are now indistinguishable? Could seeing ourselves as part of the earth’s systems help bring more urgency to the climate crisis?In the final episode of this four-part series, Bob Brinkmann, author of Practical Sustainability: A Guide to a More Sustainable Life, discusses the dynamic field of earth sciences. As humans continue to impact the “natural” world, the earth science disciplines must come together to study major issues like climate change and sustainability—not get bogged down by the silos or traditions of higher education. In addition, Bob digs into how librarians can assist in sustainability research through the available data in special collections and frequent communication with scholars. Last, he emphasizes the importance of measurable outcomes in the sustainability movement, along with becoming an advocate and evangelist for this kind of lifelong work.
While outlining the forthcoming journal Nature Mental Health, the editorial team wanted to build equity, awareness, and transparency into its framework. As Chief Editor Dr. Rebecca “Bek” Cooney notes, the journal’s scope underpins mental health as a human right in order to spotlight the lack of understanding and structural support for mental health issues. How can a journal intentionally establish itself as an advocate for mental health and social change?In this second episode of the four-part series, Bek digs into equity in mental health. She highlights the difference between equity and equality in mental health programs—an “equal” approach doesn’t account for the racial, economic, and social discrepancies that impact care. In addition, Bek discusses the journal’s goal of including those with lived experiences and its positive effects on research quality. Further, she closes with strategies on how to go beyond goodwill gestures by encouraging dialogue among readership and ensuring transparency in editorial decisions around language and self-corrections.
In this first episode, Bek walks through her own editorial background and research interests in psychology. She explains what attracted her to the Chief Editor position and her hopes for the journal to expand upon traditional research in the field. Further, she provides an overview of Nature Mental Health’s inclusive editorial approach and the current prep work to prepare for the January launch.
The menstrual cycle is known to affect things like mood and changes in pain. But there can also be symptoms that have a serious impact on a person’s function, ability to work, ability to maintain friendships and romantic relationships. This is a rare condition known as premenstrual dysphoric disorder. But it’s not the only psychiatric condition that can worsen with changes in the menstrual cycle. For instance, nearly 60 percent of menstruating patients with depression can experience cyclical worsening similar to PMDD. Conditions such as these are generally referred to as menstrual cycle affective change. Menstrual cycle affective change is more common in those with chronic psychiatric disorders. The authors are interested in reframing the conversation around menstrual cycle affective change to be something that is a more fundamental process that we can study across disorders, across categories, and identify biomarkers that might help us predict who's going to have those symptoms in more complex ways than we might be able to do with categories. This paper represents how can we take this dimensional way of thinking about menstrual cycle affective change and talk about the specific ways that we can be precise in looking at the time the time characteristics of that, the specific mechanisms, et cetera. Tory Eisenlohr-Moul is an associate professor of psychiatry at the University of Illinois at Chicago in the department of psychiatry, and she’s one of the authors. Jordan Barone is an MD/PhD candidate at the University of Illinois at Chicago, and she’s another author.
The forthcoming Nature Mental Health aims to build DEI principles into its editorial approach, thereby underpinning mental health as a human right. However, bringing these goals to fruition requires intentionality through inclusive initiatives and equitable publication practices—such as, global partnerships, lived experience advisory boards, and community-based recognition.In the third episode of this four-part series, Chief Editor Dr. Rebecca “Bek” Cooney lays out how to put anti-racist and inclusive publishing ideals into practice. She highlights pledges as a solid jumping-off point, inviting transparency and accountability from readership. She also explains how publishers can ease the burden on contributors or reviewers through flexible deadlines and uncovering key pain points. Last, Bek discusses the shifting role of librarians as publishers face changes in data aggregation, content bundling, and open access policies.
In the final episode of this four-part series, Dr. Rebecca “Bek” Cooney, Chief Editor of Nature Mental Health, discusses the current publishing landscape and future of mental health research. She explores the balance between open access and subscription models through an equity lens, highlighting the importance of author-first and choice-driven perspectives. She also explains how the librarian’s role may shift in an increasingly open environment through heightened curation and direction for researchers. Last, Bek underscores mental health’s position as a “last frontier” by unpacking the obstacles that stigma creates, and how a more nuanced and widespread understanding of mental health can help overcome these barriers.
The menstrual cycle is known to affect things like mood and changes in pain. But there can also be symptoms that have a serious impact on a person’s function, ability to work, ability to maintain friendships and romantic relationships. This is a rare condition known as premenstrual dysphoric disorder. But it’s not the only psychiatric condition that can worsen with changes in the menstrual cycle. For instance, nearly 60 percent of menstruating patients with depression can experience cyclical worsening similar to PMDD. Conditions such as these are generally referred to as menstrual cycle affective change. Menstrual cycle affective change is more common in those with chronic psychiatric disorders.The authors are interested in reframing the conversation around menstrual cycle affective change to be something that is a more fundamental process that we can study across disorders, across categories, and identify biomarkers that might help us predict who's going to have those symptoms in more complex ways than we might be able to do with categories. This paper represents how can we take this dimensional way of thinking about menstrual cycle affective change and talk about the specific ways that we can be precise in looking at the time the time characteristics of that, the specific mechanisms, et cetera.Tory Eisenlohr-Moul is an associate professor of psychiatry at the University of Illinois at Chicago in the department of psychiatry, and she’s one of the authors. Jordan Barone is an MD/PhD candidate at the University of Illinois at Chicago, and she’s another author.
This episode features a conversation with Senior Investigator Michael DeBaun, Professor of Pediatrics and Medicine at Vanderbilt University Medical Center, who has had a long career investigating the causes of and treatments for sickle cell anemia, and advocating for children and adults with this condition across the globe. You can access his Vanderbilt page here: https://pediatrics.vumc.org/person/michael-r-debaun-md-mph#:~:text=Dr.,Syndrome%2C%20a%20cancer%20predisposition%20syndrome.
DNA sequence data promises to enable the study of biodiversity and its response to threats. However, much of this potential depends upon the availability of reference genomes. We hear about the European Reference Genome Atlas (ERGA) from its Chairperson, Rob Waterhouse (Swiss Institute of Bioinformatics). We also hear from ERGA member Will Nash (Earlham Institute) about his quest to understand the genome of the beautiful Violet carpenter bee.
In this episode, Geoff Marsh speaks to Dr. Stephanie Ford about our Collection on Fetal Alcohol Spectrum Disorder.Access the full collection here: https://www.nature.com/collections/fccidiefbi
In this episode, Geoff Marsh speaks to Dr. Stephanie Ford about our Collection on Fetal Alcohol Spectrum Disorder.Access the full collection here: https://www.nature.com/collections/fccidiefbi
In this episode, Geoff Marsh speaks to Dr. Stephanie Ford about our Collection on Fetal Alcohol Spectrum Disorder.Read the collection here: https://www.nature.com/collections/fccidiefbi
In this episode, Geoff Marsh speaks to Dr. Stephanie Ford about our Collection on Fetal Alcohol Spectrum Disorder.Access the full collection here: https://www.nature.com/collections/fccidiefbi
In this episode, Geoff Marsh speaks to Dr. Stephanie Ford about our Collection on Fetal Alcohol Spectrum Disorder.Access the full collection here: https://www.nature.com/collections/fccidiefbi
Even non-academics hear a lot these days about the peer review process, but how does this work behind the scenes? In this episode we meet another new associate editor, Sebastian Ramos Onsins. We also find out what editors do at the journal from Co-editor-in-chief Sara Goodacre and editorial assistant Sandra Huettenbuegel.
This episode features a conversation with Senior Investigator Tina Cheng, who has held several leadership positions over her career, including her current roles as Chair of Pediatrics at the University of Cincinnati, and Director of the Cincinnati Children’s Research Foundation. Her clinical work and research work have had a long and lasting impact on child health disparities and health equity.
The use of genetic simulations is gaining popularity. In this episode we learn about SLiM (https://messerlab.org/slim/), one of the most popular software packages, from one of its creators - Ben Haller.
Researchers are interested in understanding the biology of why some people are more likely to overconsume substances. Some substances are difficult to study—people might not admit to illegal substance abuse or to how much alcohol they drink. But Americans are more likely to accurately recall and share how much coffee they drink—which is related to how much caffeine they consume. And so a team of researchers paired up with the company 23 and Me to try to understand genetic differences among a large set of people, to try to tease out any genetic similarities that could be correlated with coffee consumption. Sandra Sanchez-Roige is an associate professor in the department of psychiatry at the University of California San Diego, and she’s one of the study’s authors. Read their full study here: https://www.nature.com/articles/s41386-024-01870-x
Listen to July's Pediapod episode: What's hot in stem cells and regenerative biology? with Atul Malhotra.
Down in the engine room of a scientific journal are its associate editors, they arbitrate the peer-review process and make the whole system run. Heredity's newest editor is Diala Abu Awad, in this episode we find out a bit about her and her work.
This month features a conversation with Senior Investigator, Professor Richard Jackson, who’s had an extensive career in Public Health. Now Professor Emeritus at the Fielding School of Public Health at the University of California, Los Angeles, Richard has served in many leadership positions including nine years as Director of the CDC's National Centre for Environmental Health.Our conversation covered a wide range of topics affecting children's health, from pesticides to urban planning to gun violence, testament to his rich and varied career.
Living near humans and human infrastructure has ecological effects on many species. Iberian wolf populations in human-dominated landscapes are unable to disperse as far as they would in the past. We find out how they are coping with this change, from Dr Carolina Pacheco, Dr Raquel Godinho and Dr Francisco Álvares.
Scientists have been amassing an increasing amount of evidence about the impact of racial discrimination and racial trauma, including how it can have an impact on brain regions involved with threat vigilance and emotional regulation. At the same time, there’s evidence that increased engagement in those areas has been linked to increased risk of mental health problems like depression, and they also suspect it could be a vulnerability for brain health issues such as dementia and Alzheimer’s disease. Negar Fani is an associate professor in the department of psychiatry and behavioral sciences at Emory University School of Medicine, and she worked with Aziz Elbasheir, a PhD candidate at Emory University in the neuroscience program, on the study. They knew that C-reactive proteins, or CRPs, are a marker of immune activation in the blood.Read their full study here: https://www.nature.com/articles/s41386-023-01737-7
In this episode, listen to our editorial apprentice, Dr. Eric Peeples describe the scope and importance of our collection on neonatal encephalopathy and hypoxic-ischemic encephalopathy.Visit the collection here: https://www.nature.com/collections/gbejedfegi
Gene-drives hold great potential for the control of biological pests, but first they need to be thoroughly tested under appropriate conditions. In this episode we discuss some new work assessing whether mosquito populations in Northern Australia could be used to test a gene-drive targeting malaria mosquitoes.
There’s a hormone called ghrelin that’s secreted in the stomach, and when someone is hungry it contributes to that feeling of hunger and the need to search for food. But neurological studies have suggested that ghrelin might also play a role in compulsivity and impulsivity, and it might be related to substance use disorders.Rebecca Boeme is an assistant professor at Linkoping University in Sweden. She and her colleagues decided to use human subjects to investigate how ghrelin affects reinforcement learning, basically how ghrelin influences decision making when subjects receive positive and negative feedback —and also how it might actually be affecting the brain. Read the full study here: https://www.nature.com/articles/s41386-024-01821-6
In this episode of Pediapod, Section Editor Jeanie Tryggestad discusses the most recent advances in the field of Pediatric Endocrinology.
Genes are recipes for proteins and proteins do stuff. But if a gene can make more than one protein, how does that affect genetic variation and the possible routes to adaptation? We get an introduction to the topic of adaptive alternative splicing from David Manahan.
We're in the age of big data, but there remain several hurdles to integrating genomics into conservation science. We hear about these issues from Prof Cock Van Oosterhout, and discuss the potential solutions he outlined in his recent perspectives article for Heredity.
Pediatric researchers Cynthia Bearer and Eleanor Molloy join podcast host Geoff Marsh to give an update on plans for the podcast and to offer some sage advice for Early Career Investigators.Find more Pediapod episodes here: https://www.nature.com/collections/fcbjjbchaa
Dr. Nicole Petersen is an assistant professor in the department of psychiatry and behavioral sciences at UCLA. Her commentary is a new paper in the journal Neuropsychopharmacology called “Spotlighting SHAPERS: sex hormones associated with psychological and endocrine roles.” Dr. Petersen starts the paper describing an unnamed signaling molecule that can affect the physical structure of the brain and that seems to be related to a wide number of psychological and neurological conditions. Then she reveals that this is estradiol. The point she makes in the paper is that estrogen isn’t the only neuroactive substance that affects the brain in ways that we just don’t understand.Read the full study here: https://www.nature.com/articles/s41386-024-01819-0
In this second of our special episodes on the 2024 PopGroup conference, we hear from Mark Kirkpatrick, who gave the plenary talk which was the climactic end to the meeting. Mark tells us why he loves Popgroup, what his conference talk was about and what questions he's excited to dig into next.
This episode involves a conversation with senior investigator Linda de Vries, who has had a large and lasting effect in the world of pediatric research.
PopGroup is the beloved annual meeting of the Population Genetics group of the Genetics Society. This episode we hear from Mike Richie, lead organiser at this year's host organisation - the University of St Andrews, from plenary speaker Susan Johnston and from student prizewinner Diana Lobo.
The United Nations recently stated that “climate change is the defining issue of our time, and we are at a defining moment” (https://www.un.org/en/global-issues/climate-change). This statement ended the political debate about the role of human activities in climate change. Global climate change is happening and it will have a profound effect on our children.Listen and learn from Dr. Kari Nadeau the Chair of Environmental Health from Harvard School of Public Health and one of the guest editors of Pediatric Research's special issue on climate change (https://www.nature.com/collections/chjjihfaec).Read Dr. Nadeau's editorial here: https://www.nature.com/articles/s41390-022-02290-7
Serotonin is a critical chemical when it comes to a number of psychiatric conditions, such as OCD, where it seems to play a particular role in cognitive flexibility. That is, serotonin levels are related to the fact that someone is perseverating on intrusive thoughts or compulsions and isn’t able to be as flexible as otherwise would be necessary.Trevor Robbins, professor of cognitive neuroscience at the University of Cambridge, is one of the authors of a recent study titled Comparable roles for serotonin in rats and humans for computations underlying flexible decision-making, and he says such cognitive flexibility also plays a role in depression and schizophrenia. Read the full study here: https://www.nature.com/articles/s41386-023-01762-6
Each year Heredity awards a prize for the best student paper in the journal, this episode Ellen Nikelski, talking about her paper and how it feels to have been the winner in 2023.
Illness severity scores are commonly used for mortality prediction and risk stratification in pediatric critical care research. However, as mortality has steadily declined in the pediatric intensive care unit there has been increasing attention given to evaluating non-mortality outcomes in survivors. In this episode we meet Early Career Investigator Elizabeth Killien from Seattle Children's Hospital. In order to evaluate the ability of two commonly used illness severity scores to predict morbidity outcomes, she performed a secondary analysis of the Life After Pediatric Sepsis Evaluation (LAPSE) multicenter longitudinal cohort study of functional and health-related quality of life outcomes among survivors of septic shock.Read the full article here: https://www.nature.com/articles/s41390-023-02619-w
One of the big decisions in planning a genetic study is what kind of sequencing approach to use. This episode we talk to Daria Martchenko and Aaron Shafer (Trent University, Canada), whose paper compares and contrasts whole genomes to RADseq in a study of mountain goat demography and adaptive history.
This episode, along with a few more to come, involves a conversation with a senior investigator who has had a large and lasting effect in the world of pediatric research. The Early Career Investigator episodes will still be coming once a month, but hopefully this will add a bit of variety to the Pediapod feed and shine a light on some of the pioneers who have helped shape the face of modern Pediatrics. This episode features Dr. Max Vento.Read Max Vento's biocommentary here: www.nature.com/documents/Max_Vento_Biocommentary.pdf
Hypoxic Ischaemic Encephalopathy (HIE), a subset of neonatal encephalopathy, is the most common neurological condition in term born infants. It is known that a range of acute and chronic placental pathologies are more common in infants with HIE. However little is known about how differences in utero-placental function might contribute to varied outcomes in these infants.In this episode of Pediapod, we speak to Early Career Investigator Dr. Jeffrey Russ from Duke University Medical Center, who retrospectively analyzed whether acute versus chronic placental pathology were differentially associated with outcomes in patients with presumed HIE.Read the full study here: https://www.nature.com/articles/s41390-023-02737-5
We tend to focus on research studies on the podcast, but review papers are a hugely important part of the scientific literature. This week we talk to Frank Hailer, reviews editor, who demonstrates his passion for using genetics in his work and talks about why he loves his job at Heredity.
The development of children born very preterm is most often evaluated using the Bayley Scales of Infant Development. These single assessments are routinely used as outcome measures for neonatal interventions or as a means of prognosis. However, early Bayley scores may not accurately predict later outcomes. In this episode of Pediapod, we speak to Dr. Mary Lauren Neel from Emory University who, along with her team, set up a study to determine whether Bayley-III score trajectories measured at multiple timepoints in children born very preterm, predicted school readiness at age 5, better than a single assessment. Read the full study here: https://www.nature.com/articles/s41390-023-02656-5
The drug naloxone, otherwise known as Narcan, is a critical tool in reversing fentanyl overdoses and reducing mortality. But now fentanyl is appearing on the streets adulterated with a drug called xylazine. Justin Strickland, assistant professor at Johns Hopkins University School of Medicine, and Cassandra Gipson-Reichardt, associate professor in the department of pharmacology nutritional sciences at the University of Kentucky, are the coauthors of a new paper in the journal Neuropsychopharmacology about the importance of integrating public health and translational science to address the challenges of xylazine adulteration of fentanyl. Read the full study here: https://www.nature.com/articles/s41386-023-01680-7
Barriers to gene-flow control population connectivity, but what barriers exist in the sea? How similar is the connectivity of island marine organisms to those on land? As with many evolutionary questions, the Galapagos is the perfect place to find answers. Max Hirschfeld and Christine Dudgeon discuss their new work with the Galapagos bullhead shark.
The temporal facilitates many complex neurological processes. Alterations to these processes are known to correlate with specific functional deficits commonly found in preterm-born children at and beyond school age. However, as yet there is not an objective, validated method to assess the temporal lobe structure or size in very preterm infants.In this episode of Pediapod, I speak to neonatologist and this month's highlighted Early Career Investigator, Katherine Bell, from the Brigham and Women's hospital, Boston who developed a new method for quantifying temporal lobe size in very preterm infants at term equivalent age using simple metrics performed on brain MRI. Read the full study here: https://www.nature.com/articles/s41390-023-02567-5
Sanjay Mathew is a professor and vice chair for research at Baylor College of Medicine and director of the Mood and Anxiety Disorders Program. He’s one of the two authors of a recent review paper in the journal Neuropsychopharmacology, “The why, when, where, how, and so what of so-called rapidly acting antidepressants.”With his colleague Alan Schatzberg, professor of psychiatry and behavioral sciences and director of the Mood Disorders Center at Stanford University, they explore both the drugs that have been studied as rapidly-acting anti-depressants to date, and they also review the challenges and opportunities in how such research is conducted. They say that a version of ketamine has changed the field.Read the full study here: https://www.nature.com/articles/s41386-023-01647-8
What is effective population size (Ne), and why is it important? Robin Waples takes us back to the basics of this important evolutionary concept and discusses his new paper, using simulations to demonstrate that Bill Hill's 1972 equation for calculating Ne still works for populations with extreme reproductive patterns.
The COVID-19 pandemic severely affected health and healthcare systems worldwide and could have resulted in changes in fetal and neonatal outcomes.
In this episode, we speak to Early Career Investigator, Vivek Shukla from the University of Alabama at Birmingham. Using machine learning techniques, he performed a population-based study to identify changes in fetal and neonatal outcomes during the initial and delta COVID-19 pandemic period as compared to the baseline period.
Listen to the full study here: https://www.nature.com/articles/s41390-023-02533-1
Kamolphat Atsawawaranunt and Anna Santure discuss how they have used diverse samples of DNA to trace the introduction history of the common myna from its native range across its invasive distribution in the Pacific.
Before the COVID-19 pandemic, the use of telemedicine was limited in pediatric primary care. Then, in 2020 it increased exponentially. However, early COVID-19 reports described inequities in telemedicine use across multiple specialties.
In this episode, we meet Early Career Investigator, Kelsey Schweiberger from the University of Pittsburgh. In a recent paper, she describes the factors associated with scheduling and attendance of telemedicine appointments for pediatric primary care throughout the first year of the COVID-19 pandemic to identify priorities for enhanced equity in access.
Read the full paper here: https://www.nature.com/articles/s41390-023-02481-w
In this episode, Richard Bernstein (Institute for Bee Research Hohen Neuendorf) discusses the development of the first genomic prediction model for honey bees. Genomic prediction is well established in the breeding of many commercial species, but wasn’t possible in honey bees until now. Richard fills us in on what genomic prediction actually is, why its useful and why prediction for bees is so tricky.
In-person treatment for substance use disorders is an incredibly important tool, but there’s a high failure rate — more than 50 percent of people who enter drop out within the first month. There hasn’t been a highly accurate method of identifying who might leave and who might succeed, and knowing this could help centers allocate resources to give the right type of assistance to the right people at the right time. One tool available is called the Addiction Severity Index, which is used to help identify the severity of the addiction and thus customize treatment, but it wasn’t developed to gauge whether a patient might drop out entirely. So a team of researchers decided to mine something known as a digital phenotype.
Dr. Brenda Curtis is a clinical researcher at the National Institute on Drug Abuse Intramural Research Program, and she’s one of the paper’s authors.
Read the full study here: https://www.nature.com/articles/s41386-023-01585-5
Heart rate characteristics and demographic factors have long been used to aid early detection of late-onset sepsis, however respiratory data may contain additional signatures of infection.
In this episode we meet Early Career Investigator Brynne Sullivan from the University of Virginia. She and her team developed machine learning models to predict late-onset sepsis that were trained on heart rate and respiratory data to provide a cardiorespiratory early warning system which outperformed models using heart rate or demographics alone.
Read the full article here: https://www.nature.com/articles/s41390-022-02444-7
In this episode, Prof Thomas Madsen (Deakin University) discusses how a long-term study of an adder population has provided evidence that polyandry and non-random fertilisation can have positive effects on genetic diversity. Thomas argues that factoring in mating dynamics could help to improve conservation genetic analyses.
Antisocial personality disorder, or ASPD, is a difficult disorder to study. There have been studies on psychopathic individuals, and on youth with psychopathic traits, but most studies on ASPD to date have been on incarcerated adults. A team of researchers at Heidelberg University wanted to study individuals who are not incarcerated and see what these findings could elucidate about the brains, in particular the amygdalas, of individuals with ASPD.Haang Jeung-Maarse is a medical doctor at Bielfeld University in Germany and is one of the authors of the paper in the journal Neuropsychopharmacology, on the effects of oxytocin on amygdala reactivity to angry faces in males and females with antisocial personality disorder.Read the full study here: https://www.nature.com/articles/s41386-023-01549-9
In this episode, Anna Hewett discusses how different factors have led to the patterns of homozygosity observed in a population of red deer living on the Scottish Isle of Rum.
Bronchopulmonary dysplasia (BPD) is the most common morbidity among very preterm infants. Commonly, nutritional interventions are focused on achieving optimal body weight gain. However, very preterm infants with evolving lung disease often experience disproportionate growth in the neonatal period, which may contribute to the odds of developing BPD.In this episode of Pediapod, we speak to Early Career Investigator Marc Beltempo from McGill University, Montréal, Canada who has investigated the link between change in body mass index and evolving BPD in very preterm infants.Read the full study here: https://www.nature.com/articles/s41390-022-02358-4
After five years with the journal, James Burgon is leaving the Heredity Podcast. But fear not! Because the podcast is being left in a pair of safe and familiar hands. In this episode we meet our new host: Michael Pointer. Also joining the episode is new Editor-in-Chief Prof. Sara Goodacre.
Kawasaki disease is a common childhood vasculitis and its global incidence appears to be increasing. Although this disease is self-limiting, the associated vasculopathy can cause cardiovascular complications.In this episode of Pediapod, we meet Early Career Investigator Cal Robinson at the Hospital for Sick Children, Toronto, Canada who performed a population-based cohort study using Ontario health administrative databases to determine the risk of cardiovascular events and mortality after Kawasaki disease.Read the full study here: https://www.nature.com/articles/s41390-022-02391-3
Children with medical complexity typically require multiple medications throughout the course of their treatment. These individuals also increasingly undergo genome-wide testing early in life as a diagnostic test. Since many medications prescribed to children have established gene-drug interactions, could this genetic data be repurposed to aid precision prescribing in this priority pediatric population?In today's Pediapod, we meet Early Career Investigator, Gregory Costain, a physician scientist at The Hospital for Sick Children in Toronto, Canada who recently published a retrospective study which looked at this question. Read the full study here: https://www.nature.com/articles/s41390-022-02313-3
It’s clear there are diversity issues in science, both in terms of who does or doesn’t receive research grants, as well as who is or isn’t represented at the highest levels of scientific research. When Caleb Weinreb and Daphne Sun began their PhD program at Harvard University Medical School in systems biology, they took this on as an issue. They learned from others in their department, and they eventually created a course on the topic for incoming first year PhD students.As they worked on improving their course over the years, they saw that in science there was a focus on narrowing racial gaps by correcting for implicit bias. For example, there had been a well-known study in which resumes with stereotypically African-American names weren’t considered as seriously as those with stereotypically white names. But the two PhD students realized that efforts to overcome such implicit bias weren’t moving the needle. They recently published a perspective paper in the journal Neuropsychopharmacology called “To dismantle structural racism in science, scientists need to learn how it works.” Caleb Weinreb is now a post-doc in the neuroscience department at Harvard Medical School.Read the full paper here: https://www.nature.com/articles/s41386-023-01534-2
Tom Oosting discusses his research on the population demographics of the Australasian snapper, an economically important fish found in the waters around New Zealand. This study combines modern sampling with museum samples collected from pre-colonial Māori middens. This episode explores the recent Heredity paper: “Mitochondrial genomes reveal mid-Pleistocene population divergence, and post-glacial expansion, in Australasian snapper (Chrysophrys auratus)” https://www.nature.com/articles/s41437-022-00579-1
Neonatal opioid withdrawal syndrome (NOWS) represents a major public health problem in the US with a high socioeconomic burden. The pathophysiology of this condition is not yet fully understood. Data from animal models have shown that opioids modulate brain reward signalling via an inflammatory cascade, however no such data exist for opioid-exposed neonates.In this episode of Pediapod we meet Early Career Investigator Elizabeth Yen, an assistant professor of pediatrics at Tufts University School of Medicine. She recently published a pilot study which looked at the effects of prenatal opioid exposure on gene expression and white matter injury. Read the full study here: https://www.nature.com/articles/s41390-022-02357-5
Every year, Heredity publishes some outstanding student-led papers, and to recognise the quality of this work the journal runs a student paper prize. So, what makes a paper stand out? Find out, as Co-Editor-in-Chief Aurora Ruiz-Herrera joins the podcast to explore the three best student-led papers of 2022. Find the full Student Prize Longlist Collection here: https://www.nature.com/collections/bvttbjrkyx
Rare diseases affect millions of people in the USA. However, access to subspecialty care is not distributed equitably and there may be other barriers to clinic attendance. Furthermore, once established within the genetics clinic, families may still face barriers along the path to getting a molecular diagnosis.In this episode, we meet Early Career Investigator, Monica Wojcik, a neonatologist and geneticist at Boston Children's Hospital who ran a study to determine the influence of social determinants of health on the care-cascade following referral to a high-volume pediatric outpatient genetics clinic.Read the full study here: https://www.nature.com/articles/s41390-022-02240-3
Psychedelic drugs have received attention recently for their potential use as treatments for psychiatric disorders. Single, high doses of LSD have shown promise for treating depressive disorders. But there’s another way in which people have been using LSD, and it’s what’s known as micro-dosing, taking LSD at below noticeable levels, where it doesn’t seem to have a psychedelic impact—but users say it does in fact have an impact on their overall sense of well-being.This is just what Harriet de Wit, University of Chicago professor in the department of psychiatry and behavioral neuroscience, wanted to study. Dr. de Wit partnered with James Glazer, a postdoc in psychiatry at Northwestern University.Read their full study here: https://www.nature.com/articles/s41386-022-01479-y
Dr Emiliano Trucchi (Marche Polytechnic University) and Dr Céline Le Bohec (University of Strasbourg; Monaco Scientific Center) discuss the genetic basis of cold adaptation in the emperor penguin. Céline also shares her experience of visiting Antarctica. This episode explores the recent Heredity paper: “Selection-driven adaptation to the extreme Antarctic environment in the Emperor penguin” https://www.nature.com/articles/s41437-022-00564-8
Systemic lupus erythematosus (SLE) causes significant long-term morbidity and mortality, particularly in children. There is some evidence that the innate immune system, in particular neutrophil activity, can be compromised in adult-onset lupus. Yet there is a paucity of data on neutrophil activity in pediatric SLE.
This month on Pediapod, we join Early Career Investigator, Rakesh Kumar Pilania, an assistant professor at the postgraduate Institute of Medical Education and Research in Chandigarh, India to discuss his study of neutrophil activity in patients with pediatric SLE and what it reveals about the etiology of this condition.
Read the full article here: https://www.nature.com/articles/s41390-022-02055-2
Adenoid Ameloblastoma is a very rare benign odontogenic tumor characterized microscopically by epithelium resembling conventional ameloblastoma, with additional duct-like structures, epithelial whorls, and cribriform architecture. Dentinoid deposits, clusters of clear cells, and ghost-cell keratinization may also be present.These tumors do not harbor BRAF or KRAS mutations and their molecular basis appears distinct from conventional ameloblastoma but remains unknown. Dr. Carolina Cavalieri Gomes from the Universidade Federal de Minas Gerais in Brazil, discusses her team’s discovery of CTNNB1 (beta-catenin) exon 3 mutations in 4 of 9 primary cases and 2 additional recurrences.
While the occasional presence of ghost cells keratinization was the feature that led the team to initially investigate beta-catinin, this feature was present in only 2/6. Furthermore, nuclear beta-catenin immunoexpression (IHC) was found in 7 of 8 tested samples including some with wild type CTNNB1. The findings support the classification of adenoid ameloblastoma as a separate entity, and not as a subtype of ameloblastoma. The use of beta-catenin IHC could help in establishing the diagnosis in challenging cases.
In this episode, Dr Irene Godoy (University of Nebraska–Lincoln), Dr Jared Decker (University of Missouri) and Prof. Leslie Lyons (University of Missouri) discuss their quest to find the geographical origins of cat domestication.
This episode explores the recent Heredity paper: “Genetics of randomly bred cats support the cradle of cat domestication being in the Near East” https://www.nature.com/articles/s41437-022-00568-4
Although prophylactic lymph node dissections do not improve survival, the prognostic implications of a positive sentinel node and the benefi ts of removing nodal metastases for loco-regional disease control remain important. There is a strong interest in novel approaches that can improve patients’ selection for sentinel lymphnode biopsies (SLNB) given that 85% of these procedures are negative and non-therapeutic. The host discusses with Dr. Alexander Meves his recent review in Modern Pathology on the role of gene expression profiling in this setting when combined with clinicopathologic parameters.
After a traumatic event, women are more likely to be diagnosed with post-traumatic stress disorder, or PTSD. Research has been conducted on what might be causing this higher rate of diagnoses; for instance, perhaps women had more cumulative trauma in their lives than the men in question. But scientists say that even taking prior childhood trauma into account, women are still diagnosed at a higher rate than men.
Alyssa Roeckner is a neuroscience PhD candidate at Emory University, she’s in the lab of Dr. Jennifer Stevens, assistant professor in the department of Psychiatry and Behavioral Sciences at Emory University. They are two of the authors of a recent study in NPP titled “Sex-dependent risk factors for PTSD: a prospective structural MRI study.”
Read the full study here: https://www.nature.com/articles/s41386-022-01452-9
Flat lesions of the urothelium with histologic features that falls short of the threshold for urothelial carcinoma in situ (CIS) remains a challenging problem in diagnostic surgical pathology. Among these are flat urothelial hyperplasia, urothelial dysplasia, and atypia of unknown significance; lesions that have struggled under evolving classifications, changing criteria, and limited clinical actionability, all confounded by the recognized lack of diagnostic reproducibility. In this episode of ModPath Chat, Dr. Gladell Paner discusses with the host his recently published “Controversies in Pathology” article in Modern Pathology on the pros and cons of keeping the previous terminology of this group of lesions.
In this episode, Dr Paul Maier tells us about his research on the landscape genetics of the Yosemite toad, which only inhabits high-altitude meadows in California’s Sierra Nevada Mountains.
This episode explores the recent Heredity paper: “Landscape genetics of a sub-alpine toad: climate change predicted to induce upward range shifts via asymmetrical migration corridors” https://rdcu.be/cYehZ
95% of adolescents in the US have access to a smartphone and 45% report being online "almost constantly". Beyond the general time spent on screens, the control over usage and the interference into other activities are also important considerations and could reflect problematic screen use.
This week on Pediapod, we meet Early Career Investigator, Professor Jason Nagata from the University of California, San Francisco to discuss his recent study of the sociodemographic correlates of problematic screen use.
Read the full article here: https://www.nature.com/articles/s41390-022-02176-8
Locally recurrent prostate cancer from 53 patients that failed radiation therapy and underwent salvage radical prostatectomy was analyzed for clinicopathological and genomic characteristics. Most radiorecurrent tumors were enriched in cribriform morphologies (invasive cribrifom PCa and intraductal carcinoma with cribriform pattern) and demonstrated potentially targetable genomic alterations (defects in DDR genes: TP53, BRCA2, PALB2, ATR etc.). The guest, Dr. Rajal Shah of UTSW, discusses how understanding this phenotypic and genotypic diversity of radiorecurrent PCa is critically important for future management of such patients.
Social interactions play an essential role in the lives of many animals. But how do we disentangle the genetic and non-genetic factors influencing sociality? In this episode, Dr Irene Godoy (Bielefeld University) tells us about her research on sociality in capuchin monkeys.
This episode explores the recent Heredity paper: “Genetic, maternal, and environmental influences on sociality in a pedigreed primate population” https://www.nature.com/articles/s41437-022-00558-6
The Baby Doe Regulations, which regulate the provision of life-sustaining treatment to seriously ill neonates, caused a stir amongst neonatologists when they were first enacted in the 1980s. The fear at the time was that they would restrict their ability to provide optimal care to seriously ill patients by mandating the use of aggressive treatments in all but futile cases, irrespective of a patient's quality of life.
In this episode, we meet Early Career Investigator Katherine Guttman from the Icahn School of Medicine at Mt Sinai, New York. She tells us about her study which aimed to assess contemporary neonatologists' perceptions of the Baby Doe Regulations and to compare them to the views of neonatologists when they were first enacted.
Read the full study here: https://www.nature.com/articles/s41390-022-02105-9
Establishing an efficient and standardized workflow for performing molecular classification on ECs, and reporting both the molecular and histologic findings in an integrative manner, is imperative. Dr. Brooke Howitt discusses with the host her institution’s effort to implement rapid and routine molecular classification on all ECs diagnosed at Stanford.
Most succinate dehydrogenase (SDH)-deficient RCCs demonstrate classic morphology characterized by bland eosinophilic cells with intracytoplasmic inclusions. Increasingly, “variant” morphologic features are recognized. Drs. Anthony Gill and Talia Fuchs discuss with the host their findings in a recent publication in Modern pathology where features such as high-grade nuclear features, necrosis, papillary, solid, and tubular architecture are present. These features appear to be associated with more aggressive behavior emphasizing the need for a low threshold for performing SDHB immunohistochemistry in any difficult to classify renal tumor; particularly if occurring at a younger age.
Maladaptive aggression, while not a diagnosable neuropsychiatric disorder on its own, often presents as an important comorbid condition with other neuropsychiatric disorders. But while both men and women can and do display aggression, there’s been a bias to thinking of aggression, in both its adaptive and maladaptive forms, as a male behavior.
Sam Golden is an assistant professor at the University of Washington in the department of biological structure and also has an appointment in the Center for Excellence in the Neurobiology of Addiction, Pain, and Emotion. He’s one of the authors of a recent study on aggression in the journal Neuropsychopharmacology.
Read the full study here: https://www.nature.com/articles/s41386-022-01375-5
The vast majority of image-detected breast abnormalities are currently diagnosed by percutaneous core needle biopsy (CNB). While management of frankly malignant lesions diagnosed by CNB is now well-defined, there is less consensus on the optimal management of high-risk and selected benign lesions diagnosed by CNB. In this episode, Dr. Benjamin Calhoun from University of North Carolina in Chapel Hill eloquently discusses the evidence for and against immediate excision of such lesions.
Can the sleep and activity patterns of fruit flies help us better understand human metabolic disorders? It’s a big question, and one that we are going to touch upon today, as we hear from Dr Pedro Vale, Katy Monteith (University of Edinburgh), and Lucy Anderson. This episode also touches upon the undergraduate research experience, first publications, and the benefits of peer-review.
This episode explores the recent Heredity paper: “Variation in mitochondrial DNA affects locomotor activity and sleep in Drosophila melanogaster” https://www.nature.com/articles/s41437-022-00554-w
For depressed preterm neonates, initiating positive pressure ventilation is the most important factor in facilitating transition. Therefore the recommendation for depressed neonates is to immediately cut the umbilical cord and begin resuscitation. However, many studies have shown that delaying the clamping of the umbilical cord also benefits preterm infants by increasing a neonate's blood volume, oxygenation and circulatory stabilisation, thus aiding transition.
In this episode, we meet Early Career Investigator, Praveen Chandrasekharan from the State University of New York. He has used an asphyxiated preterm ovine model to ascertain the best practice of placental transfusion in a depressed neonate requiring resuscitation.
Read the full article here: https://www.nature.com/articles/s41390-022-02086-9
Modern Pathology have recently launched a new series of reviews addressing controversial issues in pathology. In this episode of ModPath CHAT, Dr. Elizabeth Montgomery, a world renowned expert in gastrointestinal pathology gives her point of view on the utility of ancillary testing for risk stratification of Barrett’s esophagus and dysplasia.
Ki-67 assessment is a key step in the diagnosis of neuroendocrine neoplasms (NENs) from all anatomic locations. The application of digital pathology coupled with machine learning has been shown to be highly accurate and reproducible for the evaluation of Ki-67 in NENs. The guest, Dr. Claudio Luchini from the University of Verona in Italy, discusses his recently published systematic review on the subject of Ki-67 assessment in pancreatic NENs (PanNENs) employing digital image analysis (DIA). The most common advantages and disadvantage of using DIA are highlighted.
Intraventricular hemorrhage (IVH) occurs in around 45% of infants born below 26 weeks gestational age, causing significant lifelong morbidity and mortality. However, there is currently no effective treatment. In part, this is due to the lack of well-characterised representative preterm animal models with long-term follow up.
In this episode, we meet our highlighted Early Career Investigator Olga Romantsik, from Lund University in Sweden. She and her team used an established preterm rabbit pup model of IVH to analyse neurobehavioral and neuropathological outcomes, to one month of age.
Read the full article here: https://www.nature.com/articles/s41390-022-02075-y
On the 20th July, The Genetics Society held a fantastic Garden Party to celebrate the 200th birthday of Gregor Mendel: a man regarded by many as the "father of modern genetics". In this episode we showcase a talk given on the day by Prof. Alison Woollard (University of Oxford) titled: ‘Mendel to Modern Genetics’.
You can find a recording of the full event on the Genetics Society’s YouTube Channel: https://www.youtube.com/watch?v=zP8hB4ijAEc&t=3426s
You can also find the Heredity Special Issue - Mendel 200th birthday, here: https://www.nature.com/hdy/volumes/129/issues/1
In a subset of patients with metastatic colorectal cancer (mCRC), the peritoneum is the predominant site of dissemination. While cure can be achieved by cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC), this procedure is associated with long-term morbidity and high relapse rates.
In this episode of ModPath CHAT, Drs. Siesing and Jirstrom from Lund University in Sweden discuss their recent study in Modern Pathology on the topic. Multi-region immunohistochemical profiling and deep targeted DNA-sequencing was performed on 7 mCRC patients with peritoneal carcinomatosis (PC). SATB2 was lacking in the majority of cases, and a conspicuous intra-patient heterogeneity was denoted for expression of (RBM3). Mutations in key CRC driver genes, i.e., KRAS, APC and TP53, were homogenously distributed across all samples. The authors conclude that their findings should trigger additional studies addressing the potential distinctiveness of mCRC with PC, which might pave the way for improved personalized treatment of these patients.
Uterine leiomyosarcoma is the most common uterine mesenchymal malignancy. The majority present at stage I with variable clinical outcome.
In this episode of ModPath Chat, Dr. David Chapel discusses his recently published multi-institutional study proposing a novel risk stratification model (shown below) for low stage uterine leiomyosarcoma.
Risk score = (coagulative necrosis)(1) + (mitoses > 25 per 2.4mm2)(2) + (atypical mitoses)(2) + (lymphovascular invasion)(3) + (serosal abutment)(5)
A recent study reported that 53% of mothers reported exposure to violence when they were children. And there is evidence that these experiences negatively impact the health and development of their offspring later on. Associations between maternal exposure to violence, psychopathology and children's mental health outcomes is well documented. However, the pre- and postnatal programming pathways between early exposure to violence, maternal psychopathology and children's cognitive and developmental milestones remain understudied.
In this episode, we meet Dr Dillon Browne, a clinical psychologist and assistant professor in psychology at the University of Waterloo in Ontario, Canada. He wanted to know if and how maternal early exposure to violence influences the developmental trajectories of children across the first four years of life.
Read the full article here: https://www.nature.com/articles/s41390-022-01954-8
In this episode the audience will enjoy a great discussion of the growing potential of methylome and copy number profiling, a technique well established for the classification of brain tumors, in bone and soft tissue tumors diagnosis. Nuclear overexpression of FOS and FOSB have emerged as a reliable surrogate markers to detect rearrangements of the transcription factors FOS and FOSB in osteoid osteoma and osteoblastoma. Limitations in specificity and sensitivity remains with some osteosarcoma showing nuclear FOS expression and a small number of osteoblastomas lacking rearrangements. Aggressive appearing osteoblastomas and osteoblastoma-like osteosarcoma can be difficult to distinguish. The guest, Dr. Daniel Baumhoer, discusses the potential use of methylation and copy number profiling in this setting. Osteoblastomas were found to be uniformly characterized by flat copy number profiles that can add certainty to their diagnosis.
The XY sex-determination system of therian mammals has persisted for over 160 million years: but why? In this episode Aurora Ruiz-Herrera (Autonomous University of Barcelona) and Paul Waters (University of New South Wales) discuss the evolution of sex chromosomes and role of meiosis.
This episode explores the recent Heredity paper: “Fragile, unfaithful and persistent Ys—on how meiosis can shape sex chromosome evolution” https://www.nature.com/articles/s41437-022-00532-2
Sometimes, when researchers are conducting an experiment, the results are confusing. Maybe the control group of animals doesn’t behave the way a control should in theory be behaving. Maybe a researcher repeats a study and sees results that are unusually different from the first time around. The answers to these issues might lie in something called ‘hidden variables,’ according to a new study titled, “What’s wrong with my research? The impact of hidden variables on neuropsychopharmacology research.”
Brian Trainor is a professor of psychology at the University of California Davis, and he’s one of three authors of the study. His co-authors are Amanda Kentner, professor at the Massachusetts College of Pharmacy and Health Sciences, and Hannah Butler-Struben, a graduate student in the animal behavior group at UC Davis. They say that many of the articles in the review are from journals about animal behavior that wouldn’t typically come across the desk of those working in the field of neuroscience.
Read the full article here: https://www.nature.com/articles/s41386-022-01309-1
The genetic material locked within museum collections could help us better understand and conserve the world around us. In this episode PhD student Mario Ernst (Natural History Museum, Berlin) and Dr Knud Jønsson (Natural History Museum of Denmark) explain how, as they tell us about their work on a charismatic group of birds: the Asian orioles.
This episode explores the recent Heredity paper: “Utilizing museomics to trace the complex history and species boundaries in an avian-study system of conservation concern” https://www.nature.com/articles/s41437-022-00499-0
Dilated cardiomyopathy (DCM) is a rare but serious condition of children and often progresses to heart failure. The outcomes for children with DCM are poor, with 50% of pediatric patients dying or needing a heart transplant within 5 years of diagnosis.
In this episode, Geoff Marsh meets professor Carmen Sucharov from the University of Colorado Anschutz campus and the director of the Pediatric Cardiology Research Laboratories. She and her team have been studying the regulation of micro-RNAs and their putative target genes in the pediatric DCM heart that may contribute to the distinctive phenotype of this disease in children.
Read the article here: https://www.nature.com/articles/s41390-021-01548-w
Kirstie Cummings and Sofia Beas are both new assistant professors in the department of neurobiology at the University of Alabama, Birmingham. When they met, they discussed the job application process, their support network, and their own personal processes, and they decided to write an article that could serve as a resource for candidates from different backgrounds, many of whom might not have the same resources that Dr. Cummings and Dr. Beas did. The result was their paper, “A Scientific Approach to Navigating the Academic Job Market,” published in the journal Neuropsychopharmacology.
Dr. Inti Zlobec, professor of digital pathology at the Institute of Pathology in the University of Bern, discusses her team’s recent publication in Modern Pathology on the role of image analysis in assessing area of extracellular mucin and predicting consensus molecular subtypes (CMS) in colorectal carcinoma. The utilized deep learning algorithm had an excellent agreement with pathologists’ estimates of mucin areas. Coupled with MSI, mucinous area estimates may predict CMS classification using only histopathology. This highlights the great potential of Image based classifier of molecular subtypes of colon cancer.
Thousands of women have been infected with SARS-CoV2 during the COVID-19 pandemic. While very few of these infections have been shown to transmit vertically from mother to offspring, it remains unclear what effect, if any, a mother's SARS-CoV2 infection has on fetal development. In this episode, we interview Dr Brian Kalish, from the University of Toronto and the Hospital for Sick Children to discuss a study he set up looking into this question, by characterising the composition and cell-type specific translational landscape of umbilical cord blood mononuclear cells.
Read the full article here: https://www.nature.com/articles/s41390-021-01793-z
Hidden within shark genomes are clues to the evolution of marine biodiversity hotspots. In this episode, Dr Paolo Momigliano (University of Vigo), tells us about his work on the grey reef shark: from fishing in the tropical waters of the Coral Triangle to detailed demographic modelling.
This episode explores the recent Heredity paper: “Genomic insights into the historical and contemporary demographics of the grey reef shark” https://www.nature.com/articles/s41437-022-00514-4
To find out about the Genetics Society’s art competition for UK primary and secondary schools, visit: https://genetics.org.uk/hap-pea-birthday-mendel/
Traditional pathology have played an integral role in the delivery of diagnosis, semi-quantitative or qualitative assessment of protein expression, and classification of disease. Technological advances have recently paved the way for the development of digital pathology-based approaches for quantitative pathologic assessments, namely whole slide imaging (WSI) and artificial intelligence (AI)–based solutions, allowing us to explore and extract information beyond human visual perception. In this episode, two distinguished leaders in the space: Vipul Baxi, Senior Scientific Director of Digital Pathology at Bristol Meyers Squibb and Michael Montalto, Chief Scientific Officer at Path AI discuss their recent review article in Modern Pathology. The share their thoughts on the promise of Digital Pathology and the challenges and opportunities that lie ahead.
In this episode we revisit an inspiring episode that answers the question: why should you publish in Heredity?
The giant tortoises of the Galápagos archipelago form one of the most iconic evolutionary systems in the world. But is all as it appears? Join Dr Evelyn Jensen (Newcastle University) and discover how museum specimens are reshaping our understanding of this famous radiation.
This episode explores the recent Heredity paper: “A new lineage of Galapagos giant tortoises identified from museum samples” https://www.nature.com/articles/s41437-022-00510-8
Driving while under the influence of THC, known as drugged driving, is becoming more of an issue as more states legalize cannabis for both medical and recreational use around the country. THC is known to impair cognitive and psychomotor performance and thus impair driving. Jodi Gilman is a neuroscientist and an associate professor of psychiatry at Mass General Hospital and Harvard Medical School, and she’s one of the authors of a new study in the journal Neuropsychopharmacology. She says that impairment and exposure are easier to correlate with alcohol. But tolerance to THC is so vastly different among different people, and the amounts that people use whether for pain or to get high are also so vastly different, that people can have detectible amounts of THC in their system, but it does not necessarily correlate with whether or not that person is too impaired to drive. Listen in to hear what she and her team did to try to detect brain impairment under the influence of THC.
Read the full article here: https://www.nature.com/articles/s41386-021-01259-0
Barley is one of the world’s oldest and most important cultivated cereal grains. But it’s long history of domestication has resulted in greatly reduced genetic diversity, which isn’t ideal for plant breeding efforts. So, in this episode, Che-Wei Chang and Prof. Karl Schmid (University of Hohenheim) discuss their quest to find useful genetic variation in wild barley relatives.
This episode explores the recent Heredity paper: “Physical geography, isolation by distance and environmental variables shape genomic variation of wild barley (Hordeum vulgare L. ssp. spontaneum) in the Southern Levant” https://www.nature.com/articles/s41437-021-00494-x
Twenty-five percent of children who survive acute symptomatic seizures as neonates go on to develop epilepsy. Whilst there are several known risk factors, currently not enough is known about the mechanisms behind the development of epilepsy following neonatal brain injury, and thus it is not yet possible to reliably predict the individual risk of developing this disease in this group of patients.
In this episode, we speak to Adam Numis from UC San Francisco. He and his team used whole exome sequencing with targeted gene analysis to look for genetic risk factors for developing epilepsy following acute neonatal seizures, and to identify potential biological processes behind this epileptogenesis.
Read the study here: https://www.nature.com/articles/s41390-021-01509-3
Every year Heredity publishes some outstanding student-led papers, and to recognise the quality of this work the journal runs a student paper prize. So, what makes a paper stand out? Find out, as we hear from overall winner Dr Allie Graham and 2nd runner-up Johanna Denkena.
Explore the full Student Prize Longlist Collection here: https://www.nature.com/collections/bedbicdicb
Inbreeding depression is often considered to be a bad thing, especially in conservation programmes. However, that may not always be the case. In this episode Dr Eugenio López-Cortegano (University of Edinburgh), Dr Eulalia Moreno (Estación Experimental de Zonas Áridas) and Prof. Aurora García-Dorado (Universidad Complutense de Madrid) discuss a surprising benefit of inbreeding in small, endangered populations. In this episode we explore the recent Heredity paper: “Genetic purging in captive endangered ungulates with extremely low effective population sizes” https://www.nature.com/articles/s41437-021-00473-2
Most very preterm infants experience apneas of prematurity. It is a common comorbidity of prematurity, and therefore reliable real-time monitoring of respiratory rates is key in these infants. The conventional method is to use chest impedance measured with electrodes on the surface of the thorax. However, this method is known to be unreliable, as it is prone to motion artifacts. For this reason, indirect measurements such as oxygen desaturation or bradycardia are often necessary to identify apneas.
In this episode of the Pediatric Research PediaPod, we meet this month's featured Early Career Investigator, Dr. Kirsten Jost at the Karolinska Institute in Stockholm, Sweden. She describes a recent study of a novel technique using a commercially available nasogastric feeding tube that measures esophageal signals and uses customized software to identify the respiratory rate of non-ventilated preterm infants. Read the article here: https://www.nature.com/articles/s41390-021-01748-4
In the past, there had been a school of thought that looked at evolution linearly — that is, you could in theory draw a line among mammals as they evolved, and so, say, rodent brains would basically be less evolved primate brains. That turns out not to be true; evolution is much more like a branching tree, and each branch then goes on to develop independently, sometimes in parallel. Some groups of animals such as primates can evolve features of their brains that other groups simply don’t have. And now, with advanced DNA sequencing, scientists have been able to determine which groups of mammals are more closely related than others, and so they’ve figured out that, for instance, tree shrews and flying lemurs are more closely related to primates than rodents are.
In this episode we explore the recent Neuropsychopharmacology paper: ”Evolution of prefrontal cortex"
In this episode of ModPath CHAT, Dr. George J Netto reviews five of the highly cited manuscripts that were published in Modern Pathology in 2021.
There is a growing body of evidence showing that excessive early media use is detrimental to children's physical and mental health. As such, the World Health Organization guidelines suggest that screen time for infants should be limited to a maximum of one hour per day. However, with the growing ubiquity of digital media, it is thought that preschoolers are exposed to more than two hours of screen time. With the rapidly changing nature of digital media use, it is not yet clear how this is affecting different aspects of early childhood development. The evidence to date has been increasingly mixed.
In this episode, we speak to medical student Clarissa Schwarzer who is doing her doctoral thesis on early childhood development and media use by children and mothers at the Leipzig Research Center for Civilization Diseases.
Join Prof. Anne Yoder (Duke University), Dr Mario dos Reis (Queen Mary University of London) and Dr George Tiley (Duke University) as they discuss their recent work looking at mutation rates in the gray mouse lemur. It’s a story that takes us from a house party to the bleeding edge of genetics research, with a detour through the scandalous sex lives of mouse lemurs.
In this episode we explore the recent Heredity paper: “Pedigree-based and phylogenetic methods support surprising patterns of mutation rate and spectrum in the gray mouse lemur” https://www.nature.com/articles/s41437-021-00446-5
Identification of molecular alterations in NTRK 1-3 has become increasingly important with the emergence of histology-agnostic, US Food and Drug Administration-approved, effective inhibitors. The host discusses with Dr. Jaclyn Hechtman, director of clinical diagnostic development at Neogenomics, her practical insights on how testing for NTRK fusion can best be implemented and communicated within the multidisciplinary healthcare team.
As cardiovascular disease has many known genetic components, a team of researchers at Baylor College of Medicine created a panel of genes associated with cardiovascular disease they call HeartCare. David Murdock, previously the assistant director of the clinical lab at Baylor College of Medicine’s Human Genome Sequencing Center and now a lab director at Invitae, states “we thought that by looking at genetic causes of cardiovascular disease in an adult population, that could really help us to push forward genetic testing in adults in general”.
On this month’s GenePod, David Murdock and Eric Venner, director of clinical informatics at Baylor College of Medicine’s Human Genome Sequencing Center, discuss results and implications of the HeartCare gene panel testing of over 700 individuals from Baylor cardiology clinics.
Caffeine administration has been associated with reduced rates of Acute Kidney Injury (AKI) in preterm neonates but the effect of caffeine on renal oxygenation is unknown.
In this episode, we meet this month's highlighted Early Career Investigator, Dr. Matthew Harer from the University of Wisconsin School of Medicine and Public Health. He has been investigating the potential use of Near Infrared Spectroscopy (NIRS), a non-invasive means of continuously measuring tissue oxygenation to assess the effects of caffeine on renal oxygenation, in the hope that caffeine might one day be used to prevent and even treat AKI.
The host is joined by Dr. Andres Acosta from the Brigham and Women Hospital. Dr Acosta discusses, on behalf of a distinguished group of coauthors, their recent somewhat provocative modern pathology publication proposing that mesenchymal neoplasms of the prostate are morphologically and molecularly heterogeneous lesion that include neoplasms that harbor genetic aberrations seen in specific mesenchymal tumors arising in other anatomic sites, such as soft tissue and the uterus.
Can we really understand ancient shifts in oceanic currents by looking at the population genetics of migratory species? Find out in this episode, as Dr Jurjan van der Zee (University of Groningen) discusses his search for a warm-water corridor between the Atlantic and Indian oceans in the genomes of green turtles.
Star-shaped cells called astrocytes are the most abundant cells to be found in the human brain. In the past, they’d been thought to play a supporting role to neurons, such as providing metabolic support, but recently they’re also emerging as stars of information processing. They can respond to neurotransmitters and release neuroactive substances that then affect synaptic transmission and plasticity. Michelle Corkrum is a child neurology resident at Columbia University and is one of the authors of a recent review paper on the links between astrocytes and dopamine signalling. The review looks back at the history of research in this field, going back decades. Listen in to learn more!
Early on in the SARS-CoV-2 pandemic, the majority of infected children were either asymptomatic or had mild COVID-19 disease, prompting many to demand a higher acceptable risk threshold for pediatric vaccines. More recently, as children begin to make up a larger proportion of the infected population and following evidence of the mental and physical toll exacted by the pandemic on children, a pediatric vaccine is now more pressing. But challenges to widespread vaccine uptake remain. In this episode meet Dr. Chulie Ulloa from the University of California Irvine about a recent commentary she wrote with fellow pediatric providers, physician scientists and advocates for children about these challenges and how they might be overcome.
Polygenic risk scores (PRS) can be an important tool in breast cancer patients to help stratify individuals into levels of disease risk. The clinical utility of PRS is still being evaluated, but what hasn't yet been evaluated is how to communicate such results to patients, and how they respond to their PRS scores.
On this month’s GenePod, Tatiane Yanes, a post-doctoral researcher at the University of Queensland and a genetic counselor at the Queensland Children’s Hospital, discusses how a team of researchers surveyed an existing pool of patients that had undergone genetic testing for breast cancer. “We're really just trying to get an understanding of how someone might respond to receiving this information, and what sort of decisions they might make around their breast cancer risk management”, said Yanes.
In this special “Meet the Expert” episode, two distinguished guests from Johns Hopkins University discuss their pioneering approach of applying methodologies, initially developed for astronomy, to the assessment of biomarkers of tumor microenvironment (TME). The guests are Dr. Janis Taube, director of Dermatopathology at Hopkins, and a co-Director of the TME Core at the Bloomberg-Kimmel Institute of Immunotherapy and Dr. Alex Szalay, Bloomberg Distinguished Professor of Astronomy and Computer Science at Hopkins and the architect for the Science Archive of the Sloan Digital Sky Survey. The fascinating discussion focuses on an innovative multiplex imaging platform that they co-developed (AstroPath) for multidimensional assessment of spatially resolved interactions at the single-cell level of lung cancer and melanoma.
In this episode, Dr. Ian Cree, Head of The WHO Tumour Classification discusses his team's recent open access publication in Modern Pathology. Historically, mitotic figures counting has been done by expressing the number of mitoses per n high power fields (HPFs), ignoring the fact that microscope fields may differ substantially, even at the same high power (×400) magnification. Dr. Cree and coauthors remind all of this variation and its implication on the accuracy of our diagnostic and tumor grading practices. While the expanding adoption of computational digital pathology algorithm will help bring consistency to assessing proliferation activity, our MODPATH Chat guest recommends that counting should be performed per standard international unit of (mm2); with an indication of the area to be counted and the method used (“hotspot” vs “average”).
Nile tilapia are the third most important farmed fish worldwide, but the emergence of the Tilapia Lake Virus (TiLV) threatens its sustainable production. In this episode, Dr Agustin Barría (The Roslin Institute) discusses his recent collaboration, where they used a natural outbreak of TiLV to investigate the genetic architecture of disease resistance.
In this episode we explore the recent Heredity paper: “A major quantitative trait locus affecting resistance to Tilapia lake virus in farmed Nile tilapia (Oreochromis niloticus)” https://www.nature.com/articles/s41437-021-00447-4
Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month’s GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments.
Ravi Savairayan, professor of genetics at the Murdoch Children’s Research Institute discusses the long-term study of vosoritide – the first drug to be approved to treat achondroplasia in Europe with ongoing FDA review in the United States.
Maxime Luu, at the University Hospital of Dijon, explains why a trial to treat PIK3CA overgrowth spectrum (PROS) with the breast cancer drug taselisib was halted and, nevertheless, how this promising line of research may proceed in the future.
The prognostic significance of regression has long been a matter of debate. Our guest, Professor Richard Scolyer, co-director of the Melanoma Institute Australia discussed his team’s recent findings on the prognostic value of regression, and the presence of regression and/or tumor infiltrating lymphocytes (TIL) in primary cutaneous melanomas predicted sentinel lymph node (SLN) status and survival outcomes.
Chorioamnionitis is an intrauterine infection of the placenta and fetal membranes. It is the leading cause of preterm delivery and is a common risk factor for adverse pulmonary outcomes such as bronchopulmonary dysplasia. There is evidence to suggest that the first negative impacts on pulmonary development occur in utero in the presence of chorioamnionitis. In this episode, we meet assistant professors Niki Reynaert and Tim Wolfs from Maastricht University in the Netherlands. Together they studied an ovine model of chorioamnionitis in order to study the effects of chronic and acute inflammation on the developing lungs.
Juvenile idiopathic arthritis (JIA) is one of the most common inflammatory joint diseases in children. Previous studies have shown that in the oligoarticular subtype of this disease, T cells play a central role in pathogenesis. T cell inhibitory receptors (IRs) seem to play an important role in the development of tolerance and recognition of self and non-self antigens. Ligands binding to these IRs inhibit T cell function and modulate the course of the immune response. In this episode, we meet this month's highlighted Early Career Investigator Erdal Sag, a paediatric rheumatologist at Ankara Training and Research Hospital in Turkey. He and his team designed an ex vivo disease model to examine the effects of different co-inhibitory receptors on the pathogenesis of oligoarticular JIA.
Loneliness is a subjective experience, but neuroscientists define it as a distress that arrives from a discrepancy between perceived and desired social relationships. There may be an evolutionary benefit to the feeling of loneliness; we’re a social species, and feeling lonely might have sent us to seek out other humans, which has been very important for survival. Moreover, if gone unaddressed and isolation worsens, health effects of loneliness have been shown to double mortality rates. It's linked to cardiovascular disease, metabolic disease, cognitive decline, higher rates of dementia, and poor mental health outcomes (i.e. depression and anxiety).
With loneliness implicated in so many cognitive impacts, Dr. Lee and her colleagues wanted to understand what is known to date about the impact of loneliness on the brain. They conducted a systematic review of the published research that examines loneliness and resulting neurobiological assessments, such as imaging studies, EEG studies, and pathological studies. Listen in and read to learn more!
Congenital anomalies (CA), developmental delay (DD), and intellectual disability (ID) are among the most common indicators in children that lead to genetic testing. Identification of an underlying diagnosis for CA or DD/ID can be consequential to care management and long-term prognosis for the child. But there has been no evidence-based guideline for clinicians to refer to that supports the use of exome or genome sequencing as a first-line or second-line test for the evaluation of pediatric patients with CA or DD/ID.
On this month’s GenePod, Fuki Hisama, MD, FACMG, FAAN and Murugu Manickam, MD, FACMG, who co-chaired the American College of Medical Genetics and Genomics (ACMG) evidence-based work group, discuss how a team of experts was brought together to provide the ACMG’s first ever evidence-based clinical guideline. This guideline lays out clear recommendations for use of exome or genome sequencing in clinical care to optimize outcomes for pediatric patients with CA or DD/ID. “In a way, this model of an evidence-based guideline is creating the standard and a template for future studies” says Dr. Manickam.
Dr. Sabina Berezowka, from the university of Lausanne Switzerland, discusses with our host her team’s recent study describing a novel “Prognostic Score” for assessing tumor regression following Neaodjuvant therapy in non-small cell lung cancer (NSCLC). The proposed combined prognostic score (PRSC) performed better than pTNM staging and previously published Major Pathologic Response (MPR) approach. Study by Berezowka et al, A prognostic score for non-small cell lung cancer resected after neoadjuvant therapy in comparison with the tumor-node-metastases classification and major pathological response. Modern Pathology, 34, 1333–1344, 2021. https://www.nature.com/articles/s41379-021-00777-y.
Dr. Jason Hornick discusses his team recent study finding that a monoclonal antibody directed against the N-terminus of DDIT3 is a highly sensitive and specific for high-grade MLPS. DDIT3 immunostains could replace molecular genetic testing in many cases, although limited labeling may be seen in a range of other tumor types.
Always a visionary, Dr. Reuter was one of the earliest Anatomic Pathologists to embrace and advance the genomic and more recently the digital transformation of our field.
In this episode of Meet The Expert series, Dr. Reuter shares his perspective and vision on the current and future impact of digital pathology.
In this episode Dr. Rohit Mehra of University of Michigan discusses the utility of TRIM63 as a diagnostic marker to distinguish MiTF-RCC from other renal tumor subtypes with overlapping morphology. In combination with TFE3/TFEB FISH, TRIM63 RNA-ISH assays can improve the accuracy and efficiency of MiTF-RCC diagnosis. Associated article: TRIM63 is a sensitive and specific biomarker for MiT family aberration-associated renal cell carcinoma. https://www.nature.com/articles/s41379-021-00803-z
Dr. Clare Verrill and Andrea Chatrian of Oxford University in England discuss their team’s study on AI for advance ordering of IHC in difficult prostate biopsy. Their elegant work shows that an AI tool making automated IHC request prior to the pathologist read of H&E could create leaner workflow and result in pathologist time savings and shorten overall Turnaround time from accession to final diagnosis. Associated article: Artificial intelligence for advance requesting of immunohistochemistry in diagnostically uncertain prostate biopsies. https://www.nature.com/articles/s41379-021-00826-6
Dr. Britta Weigelt of MSKCC discusses her team’s study on synchronous endometrial (EC) and ovarian carcinomas (OC) in Lynch syndrome and constitutional Mismatch Repair Deficiency Syndrome (CMMRD). Contrary to sporadic synchronous ECs/OCs, which are almost invariably clonally related, ECs/OCs simultaneously involving the uterus and ovary in LS patients may represent two independent primary tumors. Like their sporadic counterparts, a subset of MMR deficiency syndrome-related synchronous ECs/OCs may also originate from a single with the endometrium being the likeliest site of origin. Associated article: Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes. https://www.nature.com/articles/s41379-020-00721-6
Red sea bream are an important fish in Japan, for both culinary and cultural reasons. But there’s a problem: transparent fish are appearing in fish farms! Join Dr Eitaro Sawayama (Nihon University) and find out how he uncovered the causative gene for this deformity, and what his work means for red sea bream aquaculture.
Associated article: Identification of the causative gene of a transparent phenotype of juvenile red sea bream Pagrus major https://www.nature.com/articles/s41437-021-00448-3
After more than 150 years, wolves once again roam the Germany countryside! Of course, a lot has changed in that time. Join Anne Jarausch (Senckenberg Research Institute and Natural History Museum Frankfurt) as she discusses her recent work looking at the genetics of this ongoing, rapid and natural wolf recolonisation.
Associated article: How the west was won: genetic reconstruction of rapid wolf recolonization into Germany’s anthropogenic landscapes https://www.nature.com/articles/s41437-021-00429-6
Join us as we talk to the newest member of the Heredity editorial board: Prof. Sam Banks (Charles Darwin University). Discover his eclectic research tastes, hear about his recent Heredity paper on Australia’s threatened brush-tailed rabbit-rat, and be inspired by his passion for population genetics and ecology.
Associated article: Population genomics and conservation management of a declining tropical rodent https://www.nature.com/articles/s41437-021-00418-9
Identifying the underlying genetic cause of kidney failure in patients awaiting transplant can impact donor choice and lead to changes in management and treatment. On this month’s GenePod, Eva Schrezenmeier at Charité-Universitätsmedizin Berlin and Carsten Bergmann at Medizinische Genetik Mainz and University Hospital Freiburg, discuss how genetic testing can identify a diagnosis for patients with kidney failure who are waitlisted for a kidney transplant.
Previous studies have shown an association between fluid retention during the early postnatal period and increased BPD. However, these studies were performed nearly two decades ago meaning their results may not apply to the contemporary NICU setting, with its widespread use of surfactants and modern incubators. In this episode we meet this month's featured Early Career Investigator Marc Beltempo from McGill University and the Montreal Children's Hospital in Canada, who has revisited this important question.
Respiratory support plays a crucial role in the care of preterm infants in the NICU, ensuring that they get enough oxygen during this critical period of development. But it is becoming increasingly clear that former preterm infants who have been exposed to ventilatory support are at an increased risk of developing asthma and other respiratory disorders. In this episode, we speak to Peter Macfarlane, an associate professor in the Department of Pediatrics at Rainbow Babies and Children's hospital. He and his team have developed a mouse model to study the effects of CPAP in combination with supplemental oxygen on lung function.
It’s known that dopamine transmission in the brain, particularly in the frontal lobes, can affect decision-making and can regulate choices when it comes to actions and rewards. But the effect of dopamine transition in the medial orbital frontal cortex hasn’t yet been studied, and dysfunction in that region has been implicated in a variety of mental illnesses, including obsessive compulsive disorder, certain kinds of depression, and even schizophrenia. And so a team of researchers led by Stan Floresco, professor of psychology at the University of British Columbia, used a rat model to study the effects of dopamine on two receptors in the region, D1 and D2. To do so, they trained the rats on two games that involved decision-making, and then they infused drugs, one an agonist and one an antagonist, to the brain region. Have a listen!
While Fragile X syndrome is the most common cause of inherited intellectual disability, it is still underdiagnosed in the general population. As the phenotype may be subtle, the diagnostic pathway can take years. In addition to this, the syndrome is accompanied by many secondary health conditions — the full spectrum of which are not entirely understood by medical practitioners — adding to the burden of care for patients and families.
On this month’s GenePod, Arezoo Movaghar, PhD, a post-doc in the Waisman Center at the University of Wisconsin-Madison, and Marsha Mailick, PhD, emeritus vice chancellor for research and graduate education at the University of Wisconsin-Madison, discuss the use of artificial intelligence to both identify the prevalence and severity of secondary medical conditions and to accurately diagnose patients years in advance of a typical clinical diagnosis.
Article link: https://www.nature.com/articles/s41436-021-01144-7
Dr. Daniela Hirsch, from the Institute of Pathology at the University of Heidelberg in Germany, discusses her findings on the molecular alterations associated with colorectal cancer in the setting of Ulcerative Colitis. Using aCGH, a 48 gene panel and MSI analysis and IHC for TP53, the author and her team revealed high rate of TP53 mutations and gains in chromosome 5p in these predominantly Microsatellite stable tumors. Phylogenic clues about ontogenesis and field effect are discerned from synchronous tumors.
Associated article: Molecular characterization of ulcerative colitis-associated colorectal carcinomas https://www.nature.com/articles/s41379-020-00722-5
Dr. Stuart Schnitt from Brigham and Women Hospital in Boston discusses his team's recent findings of variable architectural and cytological patterns of residual disease in breast cancer patients with incomplete pathologic response. The relationship of pattern of residual disease to pre-treatment clinicopathologic parameters and the potential impact on management are discussed.
Associated article: Clinico-pathologic predictors of patterns of residual disease following neoadjuvant chemotherapy for breast cancer. https://www.nature.com/articles/s41379-020-00714-5
A scourge to many in agriculture, flour beetles in the genus Tribolium may be the best model system you’re not using. Join PhD student Michael Pointer, Prof. Matthew Gage and Dr Lewis Spurgin (University of East Anglia) as they discuss the importance of Tribolium beetles across a remarkable range of research fields… and their great untapped potential as a model system in evolution and ecology.
Associated article: Tribolium beetles as a model system in evolution and ecology https://www.nature.com/articles/s41437-021-00420-1
From Antarctic voyages to tropical cloud rainforests, join us as we revisit some of the best fieldwork experiences shared on the Heredity Podcast.
Universal newborn screening has been successful at improving treatment and decreasing morbidity and mortality for a number of childhood diseases. Recently, a team of researchers investigated the utility of newborn screening for rare genetic pediatric cancer syndromes. Knowing whether a newborn has a genetic variant strongly associated with pediatric cancer predisposition syndromes can potentially lead to focused surveillance of these infants, improved management, better health outcomes, and may even be cost-effective.
On this month’s GenePod, Lisa Diller, MD, professor of pediatrics at Harvard Medical School and vice chair of pediatric oncology at the Dana Farber Cancer Institute, and Jennifer Yeh, PhD, assistant professor of pediatrics at Harvard Medical School, discuss their model-based universal screening program to answer questions about potential benefits, costs, and risks of universal newborn screening for pediatric cancer predisposition syndromes.
Related article: https://www.nature.com/articles/s41436-021-01124-x
Nearly 25 years ago, a paper was published about addiction that transformed the field. The director of the US National Institute on Drug Abuse at the time called addiction a “brain disease,” and he wrote a paper articulating this position and the agenda that it implied. It led to a focus on researching the brain to understand the mechanisms behind addiction, which could lead to novel treatments. And it meant that the country began to treat addiction as a disease, thus treating it within the medical system and removing the victim-blaming stigma. Over the years, there has been a pushback against the view of addiction as a brain disease, even within the scientific community. In part, this occurred because research in neuroscience didn’t lead to effective treatments as quickly as the field hoped or promised. And in part, says Markus Heilig, it’s because other researchers felt that funding into the neuroscience of addition meant that other relevant mechanisms, such as social and psychological factors, were perhaps being somewhat neglected. Dr. Heilig and his colleagues recently published a review addressing these and other concerns. Listen in to learn more!
Article Link: https://www.nature.com/articles/s41386-020-00950-y
All too often, genomic testing in patients with undiagnosed disorders results in the finding of variants of unknown significance (VUS). This leaves the health-care provider and patient in a quandary, not knowing whether that variant is disease causing or not. On this month’s GenePod, Bekim Sadikovic, PhD, director of the Clinical Genomic Center and head of the molecular diagnostics program at Canada’s Western University, discusses the implementation of genomic DNA methylation testing in patients with rare disorders – a diagnostic tool that may help sort out the impact of VUS by identifying the signals of DNA methylation.
Related Article Title: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders https://www.nature.com/articles/s41436-020-01096-4
A lack of research on how diverse communities experience genomic medicine and integrate genetic knowledge into their understanding of and decision making around health care has led to disparities in access and utilization of genomic medicine among minority populations. “The data that's been available historically all points in the direction of suggesting that there's going to be substantial hesitance among patients in taking up new forms of genetic testing and that hesitance is rooted in historical worries”, states Dr. Richard Sharp, director of the Biomedical Ethics Research Program at the Mayo Clinic in Rochester, Minnesota.
On this month’s GenePod, Dr. Sharp and Valentina Hernandez, director of integrated nutrition services and collaborative research for Mountain Park Health Center discuss the results of a survey of both Latinx and non-Latinx patients that assessed their decision to pursue genomic risk evaluation in an effort to address this research gap. Tune in!
Related article: https://www.nature.com/articles/s41436-020-01079-5
The world of medicine has been changing rapidly due to the increasing use of ‘big data.’ And there’s been a major revolution in this approach in neuroscience and psychiatry as well: computing power, sample sizes, neuroimaging technologies, digital approaches to phenotyping, and computational modeling all are already starting to unleash dramatic new understandings of the brain, as well as new approaches to treatment. And so the journal Neuropsychopharmacology recently published a Reviews issue on the topic of Big Data. Kerry Ressler, chief scientific officer at McLean hospital and professor of psychiatry at Harvard medical school, is one of the editors.
Related article link: https://www.nature.com/articles/s41386-020-00862-x
The field of medical genetics and genomics has a complex and troubling history vis-a-vis racist ideologies—Carl Linnaeus divided humanity into four “varieties” and Charles Darwin saw humans as genetically distinct races. And, although the field has come a long way since its beginnings, systemic racism lingers in its institutions and practices. On this month’s GenePod, Genetics in Medicine editors Kyle Brothers, MD, PhD, Robin Bennett, MS, CGC, and Mildred Cho, PhD, discuss the work that must be done to start addressing the eradication of systemic racism from scientific publishing. The authors propose eight principles that are both scientifically grounded and anti-racist in an effort to provide a foundation for enlightened policy development by publishers and editorial boards in genetics and genomics.
Acute kidney injury (AKI) causes significant morbidity and mortality in children, including prolonged hospital stays, increased risk of in-hospital death and future risk of hypertension and progression to chronic kidney disease. Whilst it is quite common, it often goes unrecognised, especially outside of the critical care setting. In this episode, Geoff Marsh speaks to Dr. Shina Menon, a pediatric nephrologist at Seattle Children's Hospital, who performed a pilot study which evaluated the utility of an e-alert system to alert care providers that a patient had AKI, in conjunction with a care bundle which offered simple guidelines to help with their management. Have a listen!
Related Article: https://www.nature.com/articles/s41390-020-1046-8
The latter half of gestation and early neonatal life are critical periods for the maturation of the autonomic nervous system. Premature infants are born with underdeveloped autonomic maturation and must undergo their developmental changes in a vastly different setting to the natural, in utero environment. A number of studies have shown autonomic dysmaturation in premature infants, although these have mainly looked at cohorts of children from high-morbidity NICUs. In this episode, Geoff Marsh talks to Dr. Sarah Mulkey, a fetal neonatal neurologist at Children's National Hospital in Washington DC, who tracked the sympathetic and parasympathetic maturation of a cohort of preterm infants with low medical morbidity in a large community NICU, to assess how birth gestational age affected their autonomic maturation. Have a listen!
Related Article: https://www.nature.com/articles/s41390-021-01420-x
Pathological risk factors for metastatic disease in patients with testicular non-seminomatous germ cell tumors are debated. The tumor-node-metastasis (TNM) classification eighth edition for testicular cancers includes divergent versions, by the International Union Against Cancer (UICC) and by the American Joint Committee for Cancer (AJCC). In this episode we discuss with Dr. Daniel Berney his recent study on the topic.
Associated article: https://www.nature.com/articles/s41379-020-00717-2
Dr. Netto discusses with his two guests, Dr. Peter MCaffrey from the UTMB in Galveston and Dr. Adam Booth, their publication on developing a machine learning model using 5 serum chemistry laboratory parameters for the prediction of death from COVID-19. The discussion is followed by a conversation on the exciting role of AI and social media in Pathology given the unique expertise of the guests.
Associated article: Development of a prognostic model for mortality in COVID-19 infection using machine learning https://www.nature.com/articles/s41379-020-00700-x
In this episode we explore the 54th Population Genetics Group Meeting with two of its organisers: Prof. Andrea Betancourt and Eve Taylor-Cox (University of Liverpool). We also hear from the winner of the best student talk: Gabriela Montejo-Kovacevic (University of Cambridge). Listen now to hear about great new research and the trials of hosting an online conference.
Why did different sexes evolve? It’s a question as old as biology, but Prof. Dr Elvira Hörandl (University of Göttingen), with the help of biochemist Dr Franz Hadacek, may have discovered an important piece of the answer.
Associated article: Oxygen, life forms, and the evolution of sexes in multicellular eukaryotes https://www.nature.com/articles/s41437-020-0317-9
In a bumper episode, filled with editorial expertise and top writing tips, discover why you should publish in Heredity in 2021!
Join host James Burgon as he shares his highlights from the past year of the Heredity Podcast.
Interest is growing in the use of the psychedelic drug LSD for psychiatric research and even potentially for treatment. But placebo-controlled studies conducted to date have used just one dose of the drug—none have investigated the impacts of a variety of dosages within the same subjects. In addition, past studies did not use pharmaceutically-defined dosages of LSD, which has made verifying the effects of a particular dose difficult. To address this gap, Matthias Liechti, professor in the department of clinical pharmacology and toxicology at the University of Basel in Switzerland, and his colleagues conducted a study. Have a listen to learn more!
Related article: https://www.nature.com/articles/s41386-020-00883-6
Pediatric chronic kidney disease (pCKD) results in a life-long burden that requires routine care. Neurocognitive dysfunction, specifically impairment on tasks of executive function, is a well-established comorbidity but there is a paucity of data exploring the neurobiology of these cognitive deficits. In this episode, we meet early career investigator, Dr Lyndsay Harshman, a pediatric nephrologist at the University of Iowa's Stead Family Children's hospital, who compared the brain morphometry between early stage pCKD children and their typically developing peers, and linked this brain morphometry with disease status and performance on neurocognitive assessments.
Related article: https://www.nature.com/articles/s41390-020-01203-w
While newborn screening is gradually expanding in many states in the U.S. and other countries to include some members of a class of diseases known as lysosomal storage diseases (LSD), there has yet to be a screening test available for one LSD called metachromatic leukodystrophy (MLD). MLD is a rare neurogenetic condition that is often fatal and there is currently no widely available approved treatment. However, there are a number of promising therapies under development in ongoing clinical trials. Michael H. Gelb, PhD, professor of chemistry and biochemistry at the University of Washington, recently turned his attention to developing a newborn screening test for MLD, which he discusses on this month’s GenePod. Based on the results of more than 27,000 newborns screened for this study, Dr. Gelb believes that a newborn screening test for MLD, upon completion of a second unblinded prospective study, could soon become part of the Federal Recommended Uniform Screening Panel. Tune in!
Related Article - https://www.nature.com/articles/s41436-020-01017-5
Therapeutic Hypothermia has long been the standard of care for infants with moderate to severe neonatal encephalopathy. However, the future of treatment for neonatal encephalopathy (NE) will focus on hypothermia adjuvant therapies. There needs to be a rethink in how future NE clinical trials are designed and analyzed, according to a multi-disciplinary expert panel who met at the 'Hypoxic-Ischemic Encephalopathy Symposium: Developing the Future'. In this episode we meet Dr. Kristen Benninger, a neonatologist at Nationwide Children's Hospital in Columbus Ohio who wrote up the panel's summary. Have a listen! Related Article: https://www.nature.com/articles/s41390-020-0859-9
Pediatric Pulmonary Hypertension (PAH) is a heterogeneous disease, characterised by sustained elevation of pulmonary arterial pressures and death from right ventricular failure. Given the extremely high burden of morbidity and mortality associated with this disease, and the risk of the invasive procedures required for diagnostics, novel biomarkers for this disease would be beneficial. In this episode, we meet Early Career Investigator, Dr. Megan Griffiths from Johns Hopkins University, School of Medicine, who examined two candidate IGF axis proteins as potential predictors of PAH severity. Have a listen!
Related article: https://www.nature.com/articles/s41390-020-01113-x
Effective decision making in the Pediatric Intensive Care Unit relies on quickly ascertaining diagnostic information in order to deliver a tailored clinical response. The utility of rapid genetic testing of critically ill patients has been demonstrated several times, owing to their relatively high diagnostic yield. However the cost and slow turnaround of results have been major barriers in the past to the widespread uptake of this technology in the clinical setting. In this episode, we meet Professor Steve Kernie from Columbia University Irving Medical Center and Morgan Stanley Children's hospital, who conducted a pilot study to assess what impact the use of rapid exome sequencing would have on the length of stay of a subset of children admitted to the Pediatric Intensive Care Unit. Have a listen!
Related article: https://www.nature.com/articles/s41390-020-0858-x
Dr. Peter Sadow , Director of Head and Neck Pathology at MGH discusses with Modern Pathology Editor Dr. George Netto his recent work defining morphologic correlates of the expanding list of Kinase Fusions driving thyroid cancers. A triage testing algorithm and therapeutic implications are highlighted in the discussion. Study by Chu et al, Clinicopathologic features of kinase fusion-related thyroid carcinomas: an integrative analysis with molecular characterization.
Associated article: Clinicopathologic features of kinase fusion-related thyroid carcinomas: an integrative analysis with molecular characterization - https://www.nature.com/articles/s41379-020-0638-5
When Jon Hale, a teacher at Beaulieu Convent School in Jersey, asked himself “how do we inspire the next generation of scientists?”, he came up with an incredibly ambitious plan. It involved a Royal Society Partnership Grant, daffodils, and some of the most cutting-edge genome sequencing technology available. In this episode Jon tells us about his transformative school-based initiative, and two of his students, Daisy (17) and Caitlin (17), explain how they took ownership over their first real research project.
Associated article: https://www.nature.com/articles/s41437-020-00370-0
In this episode we discuss the new Heredity Special Issue, Plant Quantitative Genetics: from Theory into Practice, with guest editors Dr Alison Bentley (CIMMYT) and Dr Lindsey Compton (University of Birmingham). Join us as we delve into the reviews, perspectives and research papers that explore the opportunities and applications of quantitative genetics in a range of plant species, and one paper that asks the question: how can we inspire the next generation of plant scientists?
Associated special issue: https://www.nature.com/hdy/volumes/125/issues/6
For over a century, inbred mice have been at the heart of genetics research. They are undoubtedly one of the most important models in all of biology. But are the mice from inbred lines really as genetically identical as often assumed? Find out in this episode as we hear from Dr Jobran Chebib and Prof. Peter Keightley (University of Edinburgh).
Associated article: Inbred lab mice are not isogenic: genetic variation within inbred strains used to infer the mutation rate per nucleotide site - https://www.nature.com/articles/s41437-020-00361-1
Barth syndrome, an exceedingly rare genetic condition that affects only males, causes heart disease and immune deficiencies–and there’s no known treatment that addresses the cause of the disease. On this month’s GenePod, Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University School of Medicine, describes a study of elamipretide, a compound already under clinical investigation that, based on its effectiveness in targeting mitochondria, she and her colleagues thought might help their Barth syndrome patients. Based on the results of the study, Dr. Vernon says elamipritide could become the primary treatment for Barth syndrome. Tune in!
Related article: https://www.nature.com/articles/s41436-020-01006-8
The recent publication of the “Pan-Cancer Atlas” by the Pan-Cancer Analysis of Whole Genomes Consortium provided a great opportunity for Dr. Ralph Hruban and his team to reflect on where we stand in our understanding of the genetics of pancreatic cancer. From germline variants that predispose to the development of the disease, to somatic mutations that are therapeutically targetable, genetics is now providing hope, where there once was no hope, for those diagnosed with pancreatic cancer.
Associated article: https://www.nature.com/articles/s41379-020-0629-6
The host discusses with Professor Ondrej Hes, from the Charles University in the Czech Republic, his recent multi-institutional study that further defines ALK-RCC as a genetically distinct renal cancer type showing a heterogeneous histomorphology. The authors advocate a routine ALK IHC screening for “unclassifiable RCCs” with heterogeneous features.
Associated article: https://www.nature.com/articles/s41379-020-0578-0
Dr Netto discusses with Dr. Andrew Folpe a novel tumor of soft tissue and bone with a predilection for young females. The newly discovered lesion is provisionally termed “xanthogranulomatous epithelial tumor”. Clues to the diagnosis of this tumor type are presented by Dr. Folpe with a practical guide to navigating the challenging differential diagnosis of epithelial expression in mesenchymal neoplasms.
Associated article: https://www.nature.com/articles/s41379-020-0562-8
A discussion with Dr. Borczuk of New York Presbyterian Hospital- Weill Cornell Medicine on his team findings in sixty eight COVID-19 autopsies, performed early on during the pandemic, at 3 institutions in heavily hit areas (2 USA, 1 Italy). While a heterogeneous disease, COVID-19 pneumonia displayed consistent features in all three centers.
Associated article: https://www.nature.com/articles/s41379-020-00661-1
Could genome sequencing be used to prospectively identify people at high risk for having a genetic disorder? And, could this enable early multidisciplinary care and avoid life-threatening events? On this month’s GenePod, Bruce D. Gelb, MD, director of the Mindich Child Health and Development Institute at Mount Sinai’s Icahn School of Medicine, describes the genotype-first approach his team took. Dr. Gelb and his team used biobanks to identify individuals with variants likely causing heart conditions associated with RASopathies or Marfan syndrome. The team then went to the electronic health records of those individuals to determine if they had been diagnosed; many had not! Furthermore, identifying individuals by genotype first yielded new insights into their phenotypes.
Scientists who study neuropsychiatric conditions and treatments often use rodent models to do so. From depression to anxiety to memory impairment and impulsivity, there are certain rodent behaviors that are used to represent these types of conditions in humans. And to use these models, researchers have had to watch the animals live or on video and jot down every instance of, say, exploratory behavior. As the process is labor intensive and results vary slightly from researcher to researcher, Dr. Bohacheck and his colleagues created a new system based on machine learning, and they published the results of their study in the journal Neuropsychopharmacology, along with a review of the field. Have a listen to learn more! Related Review - https://www.nature.com/articles/s41386-020-0751-7 and Article - https://www.nature.com/articles/s41386-020-0776-y
In September Heredity unveiled the winners of its first ever prize for best student-led paper. In this episode we explore this collection of outstanding research with the help of Emily Baker, The Genetics Society’s postgraduate representative, the overall winner, Donald McKnight, and the Editor-in-Chief of Heredity Prof. Barbara Mable. Tune in to hear some fascinating science and learn some top-tips for writing a prize-winning manuscript.
Associated collection: First annual Heredity prize for the Best Student Paper https://www.nature.com/collections/iihfghjfei
Within the Brazilian mangroves resides some of the most unique organisms on Earth: killifish. Specifically, two species within the genus Kryptolebias, which are the only known vertebrates to reproduce through self-fertilisation. What impact does this unusual mating system have on their population genetic structure? Dr Waldir Berbel-Filho ventured into the inhospitable mangroves to discover the answer.
Associated article: More than meets the eye: syntopic and morphologically similar mangrove killifish species show different mating systems and patterns of genetic structure along the Brazilian coast https://www.nature.com/articles/s41437-020-00356-y
Modern Pathology Editor in Chief discusses with Laura Wood MD PhD her recent study on quantitative assessment of residual pancreatic intraductal carcinoma following neoadjuvant chemotherapy. The implications of finding that the intraductal component of pancreatic cancer is more resistant to chemotherapy are highlighted.
Associated article: Intraductal pancreatic cancer is less responsive than cancer in the stroma to neoadjuvant chemotherapy https://www.nature.com/articles/s41379-020-0572-6
Specialty clinics are an exceptional resource, but research has shown that 95% of those with Down syndrome lack direct access to a Down syndrome specialty clinic. Yet, those with Down syndrome are more likely to be up-to-date with health-care guidelines if their caregivers have access to an online health-care tool. On this month’s GenePod, Brian Skotko, MD, MPP, director of the Down Syndrome Program at MassGeneral Hospital for Children discusses a web-based tool that dramatically improved patients’ likelihood of being up-to-date on Down syndrome health-care guidelines.
Related Article: https://www.nature.com/articles/s41436-020-00952-7
Join Prof. Daniel Blumstein (UCLA) as he discusses his new popular science book The Nature of Fear: Survival Lessons from the Wild. Prof. Blumstein has scoured the animal kingdom in search of better ways for us to live wisely with this primordial emotion and cope with risk. It’s a journey that’s involved diving with giant clams, biking through tiger country, and developing an inordinate fondness for marmots.
The genetic structure of a population can shape an organism’s ecology and evolution. However, that structure often changes depending on the geographic scale you’re looking at. In this episode Dr Alex Twyford (University of Edinburgh) discusses the complicated genetic structures displayed by an emerging model – the yellow monkey flower, Mimulus guttatus. A proud botanist, Dr Twyford also explores the issue of ‘plant blindness’: the unfortunate tendency of biologists to overlook the research value, and potential, of plant systems.
Associated article: Multi-level patterns of genetic structure and isolation by distance in the widespread plant Mimulus guttatus https://www.nature.com/articles/s41437-020-0335-7
A novel tumor type with EWSR-CREB fusions blending features of Angiomatoid FH and Mesothelioma; a discussion with the author Pedram Argani.
Associated article: https://www.nature.com/articles/s41379-020-0646-5
The application of the study of genetics and the use of big data to identify patterns of inheritance as well as de novo mutations has had a dramatic impact on the field of Autism Spectrum Disorder research, and it offers pathways to a greater understanding of biological mechanisms, even potentially treatments. Matthew State, chair of the department of psychiatry at University of California San Francisco, and his colleagues wrote a review paper in the journal Neuropsychopharmacology, called “Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.” Have a listen to learn more!
Related Article - https://www.nature.com/articles/s41386-020-0768-y
Smoking in adults and adolescents is at an all-time low today, yet around 1 in 2 children who visit the Emergency Department have been exposed to tobacco smoke. We know that there numerous health consequences associated with tobacco smoke exposure (TSE), and that this also comes at a substantial monetary cost- in 2010, child tobacco smoke exposure resulted in more than 101,570 annual ED visits, costing nearly $63 million. In this episode, we meet Early Career Investigator, Ashley Merianos from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, who performed a cross-sectional analysis of children visiting the ED in order to assess the contribution of child TSE on healthcare resource utilization patterns.
Related Article: https://www.nature.com/articles/s41390-020-0997-0
Museum collections play a vital role in active research and conservation programmes, and in this episode we’re going to explore a prime example of just how valuable they can be. Join Kyle Ewart (University of Sydney; Australian Museum Research Institute) and Leo Joseph (Australian National Wildlife Collection, CSIRO) as they discuss their recent research on the iconic red-tailed black-cockatoo, and their discovery of a new subspecies that was hidden in plain sight.
Associated article: Phylogeography of the iconic Australian red-tailed black-cockatoo (Calyptorhynchus banksii) and implications for its conservation https://www.nature.com/articles/s41437-020-0315-y
A history of distrust and skepticism surrounds genetics research for Alaska Native tribes. Not having tribal health organizations engaged with genetics research in a meaningful way means Alaska Native people are missing out on benefits from discoveries that come out of research. On this month’s GenePod, Denise Dillard, PhD, director of research for South Central Foundation, a tribal healthcare organization, discusses the goals behind facilitating a workshop between Alaska tribal leadership, biomedical researchers, and representatives from the National Institutes of Health (NIH) and Centers for Disease Control and Prevention (CDC). The key takeaways from the workshop build upon ways to overcome barriers and address the need to form more effective partnerships. Tune in!
Related article: https://www.nature.com/articles/s41436-020-0926-y
A conversation with David Rimm, the author of a recent study on Triple negative breast cancer, on using a novel statistical algorithm (ONEST) to improve reproducibility of PD-L1 assessment by pathologists
Associated article: Prospective multi-institutional evaluation of pathologist assessment of PD-L1 assays for patient selection in triple negative breast cancer https://www.nature.com/articles/s41379-020-0544-x
Institutions and healthcare systems had started to introduce wellness initiatives following the growing realization of the widespread problem of physician distress and burnout. Whilst these programs might be effective, there is currently a lack of evidence about who uses them and whether they are best suited to their target audience. In this episode, we meet Dr. Andrea Weintraub from the Icahn School of Medicine at Mount Sinai, who conducted a cross-sectional national survey amongst different pediatric subspecialties to find out which initiatives were available, whether people knew about them or used them, and to better understand what initiatives pediatricians would like to see made available. Related Article: https://www.nature.com/articles/s41390-020-0805-x
Motivated by a series of mass mortalities, a team of marine biologists voyaged across the Caribbean in search of a poorly understood organism – the vase sponge. Join Dr Sarah Griffiths (Manchester Metropolitan University) and Prof. Donald Behringer (University of Florida) as they discuss the complex population genetic structures they uncovered, and the potential impact of their spongy discoveries on marine conservation and restoration efforts.
Associated article: Oceanographic features and limited dispersal shape the population genetic structure of the vase sponge Ircinia campana in the Greater Caribbean https://www.nature.com/articles/s41437-020-0344-6
It’s understood in epidemiological research that women who experience trauma during puberty are at significantly higher risk for affective disorders such as depression and anxiety when they become pregnant. And so Tracy Bale, a professor in the departments of psychology and psychiatry at the University of Maryland in Baltimore, has done several studies using mice to try to model and understand this effect. In her latest paper in the journal Neuropsychopharmacology, she and her colleagues set out to study just what was happening to make the mouse brain so vulnerable to stress and trauma during puberty, and how this was activated during the hormonal onslaught of pregnancy. Have a listen to learn more! Related article; https://www.nature.com/articles/s41386-020-0634-y
Speciation is often considered unidirectional: a continual process of divergence interrupted only by extinction events. However, this isn’t entirely true. In this episode Dr Jente Ottenburghs (Wageningen University) discusses the curious case of the bean geese: where speciation appears to have stopped and, perhaps, begun to reverse.
Associated article: Recent introgression between Taiga Bean Goose and Tundra Bean Goose results in a largely homogeneous landscape of genetic differentiation https://www.nature.com/articles/s41437-020-0322-z
The antagonistic co-evolution that characterises host-parasite relationships is one of the most fascinating interactions in genetics. In this episode, Dr Gilberto Bento discusses one such interaction, the Daphnia–Pasteuria host–parasite system, and the discovery of an alternative route of bacterial infection associated with a novel resistance locus. Dr Bento also talks about his experience of leaving academia to find an alternative career in science.
Associated article: An alternative route of bacterial infection associated with a novel resistance locus in the Daphnia–Pasteuria host–parasite system https://www.nature.com/articles/s41437-020-0332-x
In episode five of our editorial series we meet Dr Rui Faria from the Research Center in Biodiversity and Genetic Resources at the University of Porto (Portugal). Dr Faria’s research looks at the role of chromosomal inversions in the generation of biological diversity, focusing on Littorina snails as a model. And, in a more personal inversion, Dr Faria took his first steps behind a scientific journal when he joined the Heredity Editorial team in May 2019: tune in to discover how he made the leap and what he thinks makes a great paper submission.
The arms race between the highly toxic rough-skinned newts of North America and the garter snakes that prey upon them is a literal textbook example of evolution in action. However, it appears that a piece of the genetic puzzle underpinning this interaction has been overlooked, until now. In this episode, PhD candidate Kerry Gendreau (Virginia Tech) and Dr Michael Hague (University of Montana) discuss their recent work showing that toxin resistance in garter snakes is sex-linked, and the implications this has for a system that is taught to almost every biology student.
Associated article: Sex linkage of the skeletal muscle sodium channel gene (SCN4A) explains apparent deviations from Hardy–Weinberg equilibrium of tetrodotoxin-resistance alleles in garter snakes (Thamnophis sirtalis) https://www.nature.com/articles/s41437-020-0300-5
40% of infants with hypoxic ischemic encephalopathy (HIE) go on to develop long-term disability, despite receiving therapeutic hypothermia. Mounting evidence suggests that children with HIE are at a higher risk of both hypoglycemia and hyperglycemia, which may explain the variable outcomes to therapeutic hypothermia. In this episode, we meet this month's featured Early Career Investigator Dr. Paolo Montaldo, from Imperial College London, UK and the University of Campania Luigi Vanvitelli, Italy who used continuous glucose monitoring to assess the association between neonatal glucose control and neurological outcomes at 18-24 months.
Related Article: https://www.nature.com/articles/s41390-020-0827-4
The COVID-19 pandemic is unprecedented and clinicians have faced correspondingly unprecedented challenges in caring for patients in genetics and metabolic disease clinics who require routine check-ups and ongoing treatments. Yet, in overcoming these challenges, doctors have identified a few boons to patient care that may continue to benefit patients in the long run. Listen in to this month’s GenePod to hear how Dr. Nicola Brunetti-Pierri, a clinician at the Federico II University Hospital in Naples, Italy, and Dr. Elaine Pereira, a clinical geneticist at Columbia University in New York City, two of the areas hardest hit by the pandemic, adapted patient care amid government lock-downs and what silver linings they found.
Related Articles: https://www.nature.com/articles/s41436-020-0831-4 https://www.nature.com/articles/s41436-020-0857-7
There is a growing body of evidence to suggest that insufficient sleep can have detrimental effects on school-age children's cognitive, emotional and behavioural regulation. But there remains a lack of objectively measured data on the stability and prevalence of insufficient sleep.
In this episode, we meet Bror Ranum who is currently doing his PhD at the Norwegian University of Science and Technology. He was involved in a large prospective study of almost 800 children between the ages of 6-12 years to objectively measure the prevalence and stability of insufficient sleep using actigraphy. The results suggest the importance of measuring the number of nights of insufficient sleep as opposed to only taking an average measure over a week.
Chimpanzees are humanities closest cousins, and they’re close to disappearing. In this episode we hear from Peter Frandsen (Copenhagen Zoo, University of Copenhagen) and Claudia Fontsere (Barcelona Biomedical Research Park), who are developing new genetic tools to aid in the conservation of this iconic species.
Associated article: Targeted conservation genetics of the endangered chimpanzee - https://www.nature.com/articles/s41437-020-0313-0
What impact does the initial size of a population have on an organism’s ability to adapt to its environment? In this episode we investigate this question with Dr Yashraj Chavhan and Prof. Sutirth Dey from the Indian Institute of Science Education and Research (IISER) in Pune, India. Their results hold important insights for many aspects of population genetics.
Associated article: Larger bacterial populations evolve heavier fitness trade-offs and undergo greater ecological specialization - https://www.nature.com/articles/s41437-020-0308-x
The world is currently gripped by COVID-19, but could an often overlooked population genetic theory hold one of the keys to defeating it? In this episode we speak to Prof. Michael Lynch (Arizona State University) about a recent Comment he penned with Prof. Jeffrey Jensen, where they consider mutational meltdown as a potential SARS-CoV-2 treatment strategy.
Associated article: Considering mutational meltdown as a potential SARS-CoV-2 treatment strategy - https://www.nature.com/articles/s41437-020-0314-z
During the COVID-19 pandemic, one of the challenges doctors are facing is the unpredictable course of the disease in different people infected with SARS-CoV-2. Some people have no symptoms, others have a flu-like illness, while others develop sometimes fatal respiratory or other organ failure. There is a growing understanding that genetics plays a role in determining the severity of illness. Fortunately, millions of human genomes are stored in biobanks and databanks all over the world and hundreds of international researchers with expertise in analyzing these datasets are eager to study the gene to disease links. Most importantly, perhaps, is the global research community coming together to collaborate in the effort to understand the genomic underpinnings of the susceptibility to COVID-19 infection.
In this month’s podcast, Genetics in Medicine reached out to members of the genetics research community involved in the global initiatives to identify the genes that cause differences in susceptibility and outcomes to COVID-19: Mark Daly, PhD, director for the Institute of Molecular Medicine Finland and a member of the Broad Institute in Massachusetts, Kári Stefánsson, MD, founder and CEO of deCODE, and our own Deputy Editor, David T. Miller, MD, PhD, a medical geneticist at Boston Children’s Hospital. Together, these three discuss key methods involved in conducting genome-wide studies on a global level to understand differences in SARS-CoV-2 infection rate and severity. The hope is, these efforts will be vital for providing clues to pathways of viral infection and ultimately development of therapeutics and vaccines.
Young children face unprecedented access to screens in the modern environment. It was recently estimated that children between the ages of 3-8 get almost 3 hours of screen use a day. The American Academy of Pediatrics (AAP) have recommendations for screen-based media use which focus on four variables: access to screens, frequency of use, content and grownup-child interaction, or “co-viewing". In this episode, we meet Early Career Investigator, Dr John Hutton, from Cincinnati Children's Hospital Medical Centre, who has created a composite measure of these variables, reflecting current modes of screen-based media use. Have a listen!
Related Article - https://www.nature.com/articles/s41390-020-0765-1
Over the past decades, there’s clearly been a dramatic increase in the amount of time people spend online using social networking sites. For instance, Facebook and Instagram have literally billions of users. At the same time, there’s been a rise in mental health issues for young people from teens through their mid 20s. The rise in these issues has been seen particularly for Millenials and the I generation, both of which grew up with increased access to and use of social networking sites. As a result, some have drawn the conclusion that perhaps the two are linked, and the rise in mental health issues is linked causally to the increase in time spent online, and so treatment should involve reducing social networking use. Dr. Kiara Timpano, associate professor at the University of Miami department of psychology, and Dr. Courtney Beard, co-director of the clinical research program in behavioral health at McLean Hospital and associate professor of psychiatry at Harvard Medical School, reviewed the literature.
There is a growing body of evidence to suggest that early life stress can have detrimental effects on a child's physical and mental health. Hair cortisol concentrations are increasingly accepted as a cumulative measure of stressful experiences but they are understudied in preschool children. In this episode, we meet Professor Sunny Anand from Stanford University School of Medicine who developed a sensitive assay for hair cortisol concentrations. He and his team took hair samples from children aged 1-4 years in order to uncover psychosocial and demographic factors associated with this measure of physiological stress. Have a listen! Related Article: https://www.nature.com/articles/s41390-019-0691-2
RNA analysis can be an important addition to genetic sequencing in order to improve clinical care and to best understand variants. As clinicians use genomic testing more, the number of identified variants has also ballooned. But, for many variants, it is unknown whether they are pathogenic. The large number of variants of uncertain significance (VUS) can hinder or slow down a diagnosis. On this month’s GenePod, Dr. Diana Baralle, a professor of genomic medicine at the University of Southampton, and a clinician and clinical geneticist at the University Hospital Southampton NHS Foundation Trust, discusses a recent article published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG) that shows, on a larger scale, how VUS were evaluated using RNA functional studies increasing clinical diagnostic rate and resolving VUS. Article https://doi.org/10.1038/s41436-020-0766-9
French Polynesia is a South Pacific paradise, and thanks to an eccentric aviculturist it is also host to an interesting evolutionary experiment. In 1937, Eastham Guild released silvereye birds on Tahiti, from where they dispersed to other islands. Now they form the perfect system for testing the roles of drift and selection in rapid morphological divergence. Join Ashley Sendell-Price (University of Oxford) as he discusses his resent research on silvereyes, and stick around for some views on LGBTQ+ communities in STEM at the end. A Genetics Society Heredity Fieldwork Grant supported Ash’s research, find out more about the scheme here: https://genetics.org.uk/grants/heredity-fieldwork-grant/
In episode four of our editorial series we meet Dr Giorgio Bertorelle from the University of Ferrara, Italy. An animal population and conservation geneticist, Giorgio is fascinated by the impact human activities have on the evolution of animal genomes.
Poison dart frogs are an iconic group of tropical animals. But how and when did their spectacular warning colourations evolve? And are they really a signal to predators? In this episode we explore these questions with Diana Rojas and Adam Stow, as they discuss their recent forays into the depths of both Amazonia and modern molecular methods to unravel the evolutionary history of colour diversification in the splash-backed poison frog, Adelphobates galactonotus.
A group of more than 130 disorders share a common problem: a glycosylation issue in development where the necessary sugar chains are fully or partly missing from their needed location on protein surfaces. Patients with one of the congenital disorders of glycosylation (CDG) called SLC35A2 CDG are missing galactose, the sugar in milk, on their proteins. Without this sugar chain building block, SLC35A CDG patients often suffer from severe epilepsy, liver dysfunction and decreased coagulation among other symptoms. Tune in to this month’s GenePod to hear Dr. Eva Morava, a professor of medical genetics at the Mayo Clinic, discuss how moonlighting enzymes and metabolic adaptation from a galactose supplement benefited patients in a small pilot study published in Genetics in Medicine.
In this episode, we meet Early Career Investigator, Dr Anna Tottman who during her time at the University of Aukland, Liggins Institute performed a retrospective cohort study looking at the relationship between neonatal nutrition and neurodevelopmental outcomes. Her research suggests that nutrition for preterm infants may need to be sex-specific. Take a listen!
Preterm infants regularly need Packed red blood cell transfusions. This life-saving therapy can help prevent anaemia of prematurity and in turn, safeguard normal organ function. However, there is a risk that donor blood contains the heavy metals mercury (Hg), lead (Pb) and Cadmium (Cd) which are known developmental neurotoxicants and may be present in neurotoxic doses. In this episode we meet Alison Falck, Assistant Professor of Pediatrics at the University of Maryland School of Medicine who has studied the relationship between the donor concentration, number of transfusions and exposure in preterm infants. Her results may have implications for prescreening of donor blood.
Is more better? As the cost of genetic testing plummets, allowing more people to get testing of more genes, researchers and clinicians are asking: who should get tested, and for what? One recent study suggested that all breast cancer patients should get genetic testing. But does the evidence support this approach? In a recent ACMG statement published in Genetics in Medicine (GIM), the statement’s authors weighed the evidence for BRCA1/2 and other germline genetic testing in patients with breast cancer and recommended points for clinicians to consider. On this month’s episode of GenePod, GIM’s monthly podcast, host Cynthia Graber talks with Dr. Tuya Pal, associate director for cancer health disparities at the Vanderbilt University Ingram Cancer Center and first author of ACMG’s recent statement, and Dr. Susan Domchek, director of the Basser Center for BRCA at the University of Pennsylvania and author of a commentary on the ACMG statement, about the evidence, gaps in current knowledge, and how to improve testing rates among high-risk patients.
Related article link: https://www.nature.com/articles/s41436-019-0712-x
Related commentary: https://www.nature.com/articles/s41436-019-0721-9
A number of drugs that are used recreationally are now being studied for their use in psychopharmacology. But while the ways in which these drugs are similar or different has been described anecdotally by recreational users, they haven’t been studied in comparison to one another. Dr. Matthias Liechti and his team of researchers recently published a study in the journal Neuropsychopharmacology, in which 28 healthy subjects, men and women, take doses of LSD, MDMA, amphetamines, and a placebo over four different sessions. Dr. Liechti says this blinding is important; in other studies, participants either have taken a drug or a placebo and can tell when they’re taking the drug. But in this case they don’t know which drug they’re taking, which allows the effects of the drugs to be compared against each other. Take a listen to find out more!
It’s known that there’s a relationship between post-traumatic stress disorder, or PTSD, and a higher rate of opioid abuse. What isn’t understood, though, is what that relationship is. Does PTSD cause people to turn to opioids in particular among all the potential drugs of abuse, or is there something about opioid use that makes users particularly sensitive to trauma? This is just what Michael Fanselow, professor in the psychology and psychiatry departments at UCLA, and his colleagues investigated for a recent study in the journal Neuropsychopharmacology. Have a listen to learn more!
Related article: https://www.nature.com/articles/s41386-019-0559-5
In episode three of our editorial series we meet forest engineer turned plant geneticist Prof. Dario Grattapaglia. A highly experienced researcher and editor, Dario brings a unique and heavily applied focus to his work. His story and views on publishing are sure to inspire many!
Despite all the tools available for the clinical diagnosis of neurodevelopmental disorders, about half remain undiagnosed”, states Dr. Stefan Rentas, first author of a recently published article in GIM. For many patients with neurodevelopmental disorders, a genetic diagnosis doesn't come easy. Genetic testing often comes back negative, even when a Mendelian disorder is very likely, leaving more than half of patients undiagnosed. One explanation is that researchers simply haven't found all the variants that can cause a disorder, but the disorder could also be caused by non-coding regions of the genome that aren't examined with current techniques. That's why Dr. Rentas and his colleagues at the Children's Hospital of Philadelphia turned to RNA sequencing. By looking at gene expression through RNA sequencing, instead of just the genes themselves, abnormalities in the functional output of those genes can be discovered. In this month’s GenePod, host Cynthia Graber chats with Dr. Rentas about how his team successfully diagnosed several of these patients through RNA sequencing, and what a genetic diagnosis really means.
Related article link: https://www.nature.com/articles/s41436-019-0741-5
When a variant of unknown significance (VUS) shows up in a genetic test, it's frustrating. Without clinical data backing the pathogenicity of a variant, it is difficult to advise patients. As genetic screening increases, more VUS crop up, and become even harder to classify due to an expanding pool of clinical characteristics of patients. For BRCA1/BRCA2 testing, VUS occur in 2-4% of cases, and the number of VUS that have been identified is roughly equal to the number of pathogenic variants. In a recent publication in GIM, Dr. David Goldgar and his team expanded on their work studying VUS in BRCA1/BRCA2 using clinical genetic tests in 138,000 individuals undergoing genetic testing for hereditary cancer. On this month's GenePod, Dr. Goldgar discusses their new model for predicting pathogenicity of BRCA1/BRCA2 VUS using family history, and the value of grouping similar VUS, rather than studying them individually.
Related article link: https://www.nature.com/articles/s41436-019-0729-1
Every winter population geneticists gather for the Population Genetics Group Meeting. This year, the 53rd meeting took place at the University of Leicester, and with the help of Michael Pointer, a PhD student at the University of East Anglia, we are going to bring you the highlights! From world-renowned researchers to rising stars, settle in and listen to the best of PopGroup 53!
In episode two of our editorial series, we meet Dr Marc Stift (University of Konstanz). A plant evolutionary geneticist with three years under his belt at Heredity, Marc has also authored five papers in the journal (so far). This gives him valuable perspectives from both sides of the process. What has he learnt? What tips can he give for writing a successful manuscript? And what makes him scientifically tick? Tune in to find out.
Associated articles: Sibling competition does not magnify inbreeding depression in North American Arabidopsis lyrata https://www.nature.com/articles/s41437-019-0268-1
STRUCTURE is more robust than other clustering methods in simulated mixed-ploidy populations https://www.nature.com/articles/s41437-019-0247-6
Charles Darwin described it as the most complex mating system in the natural world. Famed statistician Ronald Fisher was fascinated by it. And this episode’s interviewees braved 40 °C heat and caimans to unravel some of its mysteries. What is it? Tristyly — a rare and mysterious plant mating system. Tune in to hear what Dr Nicolay Cunha and Prof. Spencer Barrett learnt about this system from the pickerel weeds of Brazil’s Pantanal.
Associated article: Architectural constraints, male fertility variation and biased floral morph ratios in tristylous populations https://www.nature.com/articles/s41437-019-0237-8
Behind the pages of Heredity there lies a group of incredibly dedicated, brilliant scientists—our editors! Who are they? What do they actually do? What kinds of research are they passionate about? What are they looking for in a good manuscript? These are the kinds of questions we are going to explore in a new series of episodes dedicated to these unsung heroes of scientific publishing. First up, we have Dr Alison Bentley, a crop specialist who leads a +40 group of researchers as Head of Genetics and Breeding at NIAB (National Institute of Agricultural Botany).
Medical Simulation is a powerful model for pediatric education. This type of experiential training is used to teach various skills including stressful medical tasks like resuscitation, without putting patients at risk. In order to better understand the behaviour of healthcare providers during these situations, researchers have started to use eye-tracking technology. In this episode, we meet Early Career Investigator, Michael Wagner from the Medical University of Vienna, who during a fellowship at the Yale University, carried out a simulation-based study using eye-tracking glasses to explore the gaze behaviour and subjective experience of care-givers during a neonatal resuscitation to assess the usability of this technology for training.
Related article: https://www.nature.com/articles/s41390-019-0571-9
The sound produced by the vocal tract of a 3,000 year-old Egyptian mummy has been synthesized using CT scans, 3D printing and an electronic larynx. The findings are presented in a study published in Scientific Reports. Read the paper here: https://go.nature.com/2TUueZ4
Clinical studies have shown that newborns can experience up to 14 painful procedures each day of admission at the neonatal intensive care unit. There is evidence that these early experiences can cause changes to the developing nervous system affecting, amongst other things, nociception in adulthood. Preterm infants are at particular risk from repeated noxious procedures owing to the extensive developmental and functional changes taking place in the CNS at that time. In this episode, we meet Dr. Nynke van den Hoogen, who during her time at Maastricht University, used an animal model to assess whether the number of neonatal noxious events has an affect on acute and long-term mechanical sensitivity.
Related article: https://www.nature.com/articles/s41390-019-0420-x
In this episode we explore the nature vs. nurture debate in one of humanities closest companions – Dogs! Why do they do the things they do? Are their behaviours hardwired into their DNA? Tune in and listen to Dr Juliane Friedrich, Dr Pamela Wiener and Dr Marie Haskell as they discuss complex genetic behaviour traits in German shepherd dogs, collaborating with the Swedish Armed Forces, and how their research has shaped the way they view their own pets behaviour.
Associated article: https://www.nature.com/articles/s41437-019-0275-2
The annual Population Genetics Group Forum is an important, and much beloved, conference in the fields of genetics and evolution. As registration opens for the 53 meeting of PopGroup (to be held at the University of Leicester, 5th – 8th January 2020), we hear what’s in-store from three of the people organising it: Dr Rob Hammond, Dr Richard Badge and PhD student Max John.
We then delve into the history of this wonderfully unique conference with three of its longest serving delegates: Prof. John Turner, Prof. Laurence Cook and Prof. John Brookfield.
Fish farming, or aquaculture, is an important source of animal protein, particularly in developing nations. Unfortunately, aquaculture is highly susceptible to outbreaks of infections disease. In this episode, Lior David and Roni Tadmor-Levi (The Hebrew University of Jerusalem) discuss their work trying to identify the genetic basis of disease survival in the common carp (Cyprinus carpio) when challenged with the koi herpes virus (Cyprinid herpesvirus 3).
Associated article: https://www.nature.com/articles/s41437-019-0224-0
An essential aspect of life is reproduction, and an essential aspect of reproduction is sex… except when it isn’t. While common in invertebrates, asexual reproduction is only seen in around 90 vertebrate species. And in this episode, Dr Susana Freitas (University of Lausanne, Switzerland) explains her work looking at the hybrid origin of parthenogenesis in what may be the best-studied asexual vertebrate—Darevskia lizards.
Associated article: https://www.nature.com/articles/s41437-019-0256-5
Species are often thought of as discreet and separate from one another. However, hybrid zones often form between closely related species, providing the opportunity to test many evolutionary hypotheses. In this episode, we talk to Dr Henrique Batalha-Filho (Universidade Federal da Bahia, Brazil) and Dr Marcos Maldonado-Coelho (Lund University, Sweden) about their work characterising a hybrid zone between two spinetail bird species in the Atlantic rainforests of Brazil... we also hear from the birds themselves.
Associated article: https://www.nature.com/articles/s41437-019-0256-5
The Faroe Islands are a North Atlantic archipelago, famed for being a Viking stronghold. However, for the past few centuries the islands have themselves been besieged by one of the world’s greatest invaders: the brown rat. In this episode, Dr Emily Puckett (University of Memphis) and Dr Eyðfinn Magnussen (University of the Faroe Islands) discuss their recent paper looking at the current and historical population genetics of the brown rat. It’s a story that takes us from 18th century shipwrecks right into the modern genomic era.
Associated article: https://www.nature.com/articles/s41437-019-0255-6
How do you breed a high-production cow fit for a changing world? It’s rare that we discuss the impact of climate change on cattle agriculture, yet it’s important to consider how rising temperatures will impact this important part of the global food chain. In today’s episode, Prof. Ismo Strandén, Prof. Juha Kantanen and Prof. Michael Bruford discuss a simulation-based approach for identifying optimal breeding strategies. It’s an approach that may help produce a productive yet temperature resilient dairy cow by identifying the best way to mix the desirable genomic traits of both commercial and rare breed stocks.
Associated article: https://www.nature.com/articles/s41437-019-0207-1
Collaboration is an essential aspect of modern science, and the authors featured in today’s episode epitomise this relationship. In our most ambitions interview to date, all four first authors of a recent Heredity paper come together to discuss their work looking at range expansions in the blacktip reef shark (Carcharhinus melanopterus). Their results provide a cautionary tale for researchers interpreting population genetic data, especially when dealing with potential meta-populations.
Associated article: https://www.nature.com/articles/s41437-018-0164-0
Some like it hot. Some like it cold. But whatever an organism’s preference, our changing climate is likely going to force them to adapt to new temperature regimes. This raises a particularly interesting question for those species with complex life-cycles: do different life stages respond to thermal pressures in a similar way? Or do they display distinct evolutionary trends? In this episode we speak to Dr Philip Freda and Zainab Ali about their work looking at stage-specific genotype-by-environment interactions for cold and heat hardiness in Drosophila melanogaster. And beyond the science, Zainab tells us what it feels like to have an undergraduate research experience lead to your first scientific publication.
Associated article: https://www.nature.com/articles/s41437-019-0236-9
Storytelling facilitated both the emergence of the scientific discipline and the evolution of human intelligence. At least, that’s what Prof. Enrico Coen argues. A former President of the genetics society, Prof. Coen, from the John Innes Centre, has two articles in the recent Heredity Special issue commemorating 100 years of The Genetics Society. In the first, he creatively recounts the rise of Homo geneticus, and in the second he delves into the history and importance of human storytelling. Tune in to hear a grand tale of genetics and discover how your research could benefit from a little more storytelling.
Associated articles: https://www.nature.com/articles/s41437-019-0215-1 https://www.nature.com/articles/s41437-019-0214-2
We tend to think of science as objective, but as with any human endeavour it is fraught with biases: cognitive, technical, personal and cultural. Interestingly, it turns out that inheritance can also be biased, with the transmission of genes often displaying anything but ‘fair’ segregation. As the Genetics Society celebrates its centenary, join president Prof. Laurence Hurst as he discusses 100 years of bias in genetics and evolution, how he fell in love with the field (despite poor first impressions), his thoughts on science education, and his hopes for a playful future in the study of genetics and evolution.
Associated Article - https://www.nature.com/articles/s41437-019-0194-2
A precision medicine approach has advanced the development of new cancer therapies and researchers who study neurodegenerative diseases would like to replicate that model. Yet, few neurologists recommend genetic testing to patients with neurodegenerative disorders such as Parkinson’s disease. Dr. Roy Alcalay, a neurologist and associate professor at Columbia University Irving Medical Center, and colleagues wanted to discover what’s holding them back. In a recent study published in GIM, the team conducted a survey to identify what barriers exist for movement disorder specialists in the US and Canada. Tune in to this month’s GenePod to find out how knowledge gaps, insurance coverage questions and attitudes toward therapeutic approaches contribute to clinicians’ hesitancy to recommend genetic testing for neurodegenerative disease patients.
Related article: 'Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists' https://www.nature.com/articles/s41436-019-0684-x
It’s widely understood that early life adversity has an impact on mental illness and cognitive problems later in life. There are theories as to the mechanisms of how this works, but it’s difficult to test in humans. Tallie Baram is a professor of neurophysiology and biophysics at the UC Irvine department of pediatrics. And she co-authored a recent study in the journal Neuropsychopharmacology with Ali Mortazavi, professor of developmental and cell biology at UC Irvine. Dr. Baram says that imaging studies show changes in brain structure and circuits, and cognitive and emotional tests also demonstrate a change in function. But it’s difficult to study the mechanism, to try to understand how this is happening, because scientists can’t take samples of brain tissue to determine how and when genes are expressed.
Related Link: https://www.nature.com/articles/s41386-019-0496-3
Although genetic sequencing has aided the diagnosis of many genetic diseases, only about one third of children with unknown or rare genetic diseases end up with a diagnosis after exome sequencing. To help these patients, Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA, wanted to explore the genome more effectively. In a recent publication in GIM, Dr. Nelson and team show RNA sequencing helped to solve an additional 15% of cases that genome sequencing alone couldn't. On this month's podcast, Dr. Nelson and host Cynthia Graber discuss how transcriptome sequencing may be able to shorten the diagnostic odyssey for some rare disease patients and whether insurance companies should pay for the testing.
Related link - https://www.nature.com/articles/s41436-019-0672-1
One of the most common chromosomal deletions in humans happens on chromosome 22. It’s known as 22q and affects as many as one in 2,000 live births. People with the deletion can present with a wide variety of traits. Some have heart defects. Others have defects in the palate, while still others have developmental delays. But in 2005, Donna McDonald-McGinn, director of the 22Q and You Center at the Children’s Hospital of Philadelphia and clinical professor at the University of Pennsylvania, noticed some patients had rare, atypical clinical features such as limb differences and rectal malformations. Now, in a recent publication in GIM, she and an international team of scientists reveal variants in a gene called CDC45 on the non-deleted chromosome are responsible for the unusual traits. The 22q deletion had unmasked the effects of the CDC45 variants. On this month’s GenePod podcast, Dr. McDonald-McGinn and host Cynthia Graber chat about how this unmasking phenomenon may be responsible for other conditions as well.
Related article - https://www.nature.com/articles/s41436-019-0645-4
Neonatal encephalopathy (NE) is associated with substantial morbidity and mortality and affects around 1.5/1000 live term births. Predicting the severity and outcome of neonates with NE is therefore vital in order to provide the best care for neonates with NE, and a biochemical marker obtained at birth would therefore be useful to bolster the current scoring system. In this episode, Geoff Marsh speaks to Early Career Investigator Dr. Imran Nazir Mir, from the University of Texas, Southwestern Medical Center. He's just published a paper testing the utility of two potential candidate proteins for determining the presence and severity of hypoxic NE, and to understand where these molecules are synthesized and cleared.
Related article: https://www.nature.com/articles/s41390-019-0439-z
The recreational drug MDMA, also known as Ecstasy or Molly, is particularly popular in social settings and raves, in large part because of how socially connected it makes the users feel. It’s being studied for use in psychotherapy —there’s a phase III clinical trial for the use of MDMA to treat PTSD. What’s clear is that the drug affects how users experience social interactions. But there are questions: Does the drug make positive social interactions feel better, or reduce the negative feelings associated with negative social interactions?
Related link - https://www.nature.com/articles/s41386-019-0402-z
Every year more than half a million people in the US have stents placed in narrow blood vessels to improve blood flow to the heart. Following the procedure, patients typically need treatment with anti-clotting drugs. The go-to medication is clopidogrel, a prodrug that requires activation by an enzyme called CYP2C19. However, about a third of patients carry variants that render CYP2C19 ineffective. These patients are at increased risk for future heart attacks, strokes and other cardiovascular events. Prasugrel and ticagrelor are examples of alternative anti-clotting medications, but these therapies have been shown to have higher bleeding rates and are typically more expensive than clopidogrel. In clinical practice, switching between clopidogrel and either prasugrel or ticagrelor has become common. In a recent study published in GIM, researchers demonstrate how using CYP2C19 genotyping to guide medication decisions can benefit patients. GenePod host Cynthia Graber chats with the study’s lead author, Dr. Craig Lee, about the work on this month’s podcast.
Article Link: https://www.nature.com/articles/s41436-019-0611-1
For term-born infants, low birth weight has been shown to correlate with a broad array of adverse cardiometabolic outcomes, and excess glucocorticoid exposure has been linked to these relationships. Also, intra-uterine growth restriction (IUGR) in term-born infants has been linked to subsequent increases in adrenal androgen activity. In this episode, we meet Kristi Watterberg, a professor of Pediatrics at the University of New Mexico who evaluated the relationship between preterm birth to salivary cortisol and dehydroepiandrosterone (DHEA) at age 6, and assessed the relationship of cortisol and DHEA with blood pressure and measures of adiposity. The results suggest interventions to improve the cardiometabolic outcomes of infants born extremely preterm.
Article link: https://www.nature.com/articles/s41390-018-0243-1
Over-the-counter (OTC) medications are used in an estimated 70% of pregnancies. Acetaminophen, also known as paracetamol is found in a large number of OTC and prescription drugs. Given its prevalence and its ability to freely cross the placenta, researchers are now focusing on the safety of maternal exposure to this drug and its effects on fetal health. There have been inconsistent results in both human and animal studies on the short and long-term effects of acetaminophen use during pregnancy. In this episode, we meet Early Career Investigator, Melissa Smarr, an assistant professor at the Emory University School of Public Health as she describes her study into the effects of prenatal acetaminophen use on fetal growth.
As the appetite for clinical genetic testing grows, it seems the demand for geneticists able to provide the needed services outpaces the supply. Yet health services do not have a way to measure that growth or the resources needed to provide those services. In a recent study published in GIM, researchers describe a new framework for evaluating the resource needs of clinical genetics services, including recent huge increases in genetic testing and the accompanying counseling. In the August Genepod, host Cynthia Graber talks with lead study author Andrew Fennell about the new framework, its current limitations and how clinicians can use it now to plan for the future.
Related link; https://www.nature.com/articles/s41436-019-0602-2
Depression is an incredibly important disorder—according to Thomas Schlaepfer, head of the department of interventional biological psychiatry at the University of Freiburg, at least 20 percent of people have a depressive episode at least once in their lives. And while most patients’ symptoms improve with a combination of psychotherapy and medicine, up to 20 percent of depressed patients do not improve from existing treatments. Dr. Schlaepfer and his colleagues have been conducting research on deep brain stimulation, in which implanted electrodes automatically deliver electrical impulses to a particular region of the brain. Have a listen to learn more!
Related link: https://www.nature.com/articles/s41386-019-0369-9
Nearly a third of neurodevelopmental disorders are thought to have a genetic basis and the most recent ACMG guidelines, from 2010, recommend Chromosomal Microarray (CMA) and fragile X testing as first tier genetic tests. In a recent study published in GIM, Srivastava et al carried out a meta-analysis of 30 papers published since those guidelines were issued and determined exome sequencing had a significantly higher diagnostic yield than these previous testing standards. In this month’s GenePod, Cynthia Graber talks to Mustafa Sahin, senior author of the study, about the authors’ hopes that the increased diagnostic yield will lead to exome sequencing being more widely accepted as the first line testing. The authors are also hopeful that having a molecular diagnosis might result in potentially actionable treatments for some patients. Click for related article: https://www.nature.com/articles/s41436-019-0554-6
Almost 10% of newborn infants develop significant hyperbilirubinemia, and many require phototherapy treatment. This is costly and can increase the likelihood of patients developing allergic diseases. However the costs of not treating neonatal jaundice can be more severe as it can cause lifelong disability. Precise patient monitoring and deliberate treatment assignment are therefore essential for at-risk neonates. In this episode, we meet Sven Wellman, then of the University of Basel's Children Hospital in Switzerland. He and his team developed an online tool that uses machine learning methods to accurately predict neonates at risk of developing clinically relevant hyperbilirubinemia.
Related article: https://www.nature.com/articles/s41390-019-0384-x
Why do the tropics contain such a diversity of life? In this episode, we explore this question with Matt Orton and Prof. Sarah Adamowicz from the University of Guelph. Listen to them discuss their recent research paper – Is molecular evolution faster in the tropics? – and hear about the challenge it poses to the long standing Evolutionary Speed Hypothesis.
Associated article: Is molecular evolution faster in the tropics? https://www.nature.com/articles/s41437-018-0141-7
In this episode we explore the genetic structuring of orchids in the cloud rainforests of Ecuador. While we mainly think of orchids as ornamental houseplants, many wild species are vulnerable to poaching or deforestation. In a recent Heredity paper, Professor José Iriondo (King Juan Carlos University, Madrid) and colleagues investigated the fine-scale genetic structure of an unassuming orchid in a regenerating patch of Ecuadorian rainforest—working in a landscape unlike any other, they have discovered a mysterious population dynamic that so far eludes explanation, but does highlight vital conservation considerations for this iconic family of flowering plants.
Associated article - Complex fine-scale spatial genetic structure in Epidendrum rhopalostele: an epiphytic orchid https://www.nature.com/articles/s41437-018-0139-1
From the days of Darwin and Mendel, studies on colouration have played a vital role in deciphering the mechanisms of natural selection and genetic heredity. While this work has encompassed many species from all branches of the tree of life, a particularly noteworthy one is the incredibly colour diverse grove snail, Cepaea nemoralis. In this special double-whammy episode, we discuss two recent Heredity papers on this unassuming, yet beautiful, little mollusc by Dr Angus Davison (University of Nottingham) and colleagues. The first takes a quantitative approach to determining the colour phenotypes of over 1000 grove snails, while the second investigates the underlying genetics of this colour polymorphism. The insights gleaned from these studies have important implications for how we conduct studies on animal colouration, and also challenge long held assumptions about the evolution and role of supergenes.
Related articles;
Discrete or indiscrete? Redefining the colour polymorphism of the land snail Cepaea nemoralis https://www.nature.com/articles/s41437-019-0189-z
Recombination within the Cepaea nemoralis supergene is confounded by incomplete penetrance and epistasis https://www.nature.com/articles/s41437-019-0190-6
Direct-to-consumer genetic/genomic testing is rising in popularity and at the same time research shows medical genetic testing targeting only at-risk populations might miss people who can benefit from testing. In a recent study published in GIM, researchers considered the pros and cons of offering genomic screening to all young adults in a single-payer healthcare system. They found the screening was highly cost-effective and would reduce cancer deaths by more than 30 percent. There are many caveats to implementation of such an approach, however. In June's GenePod, host Cynthia Graber talks with study author Dr. Paul Lacaze about the research and the ethical implications of offering population-wide genomic screening.
Related article: https://www.nature.com/articles/s41436-019-0457-6
In vivo textural and morphometric analysis of placental development in healthy & growth-restricted pregnancies using magnetic resonance imaging
Placental dysfunction is a leading cause of morbidity and mortality in children. Yet, despite its central importance, there is a lack of tools to assess in vivo placental health. Ex vivo evaluation of placentas has shown there to be micro-architectural changes with fetal growth restriction (FGR), but currently there are no tools to assess this before birth. In this episode, we speak with this month's Early Career Investigator- Prof. Nickie Andescavage from George Washington University, who recently performed an advanced textural and morphometric of Magnetic Resonance images of the in vivo placenta in healthy and high-risk pregnancies.
Article link: https://www.nature.com/articles/s41390-019-0311-1
Research has demonstrated that, overall, women are more vulnerable to drug addiction than men are. They become addicted more quickly after first using, they have a harder time staying off drugs, and they relapse at higher rates. But most studies have focused on men, and models that have been developed nearly entirely focus on male subjects. Now, two things are changing the situation: scientists are realizing that women's experience and women's brains are different when it comes to addiction, and the NIH has mandated that tests involve female subjects as well. Erin Calipari is assistant professor of pharmacology at the Vanderbilt University School of Medicine, and she's one of the authors of a new paper in the journal Neuropsychopharmacology. In it, she and her colleagues create a new model for examining the differences between female and male rodents when it comes to drug addiction.
Related article - https://www.nature.com/articles/s41386-019-0320-0
In a recent study published in GIM, researchers assessed an expanded non-invasive prenatal screening test on 94,000 women and found the predictive value for DiGeorge Syndrome was higher than that of current screens. In this month’s episode of GIM’s GenePod podcast, host Cynthia Graber talks with study author Dr. Deshang Liang about how the new screen might improve upon current widely available screening tests by having a higher detection rate of clinically significant fetal chromosome abnormalities. They also discuss how the implementation of expanded screening could stretch genetic counseling resources and touch on other potential concerns.
Related article: https://www.nature.com/articles/s41436-019-0467-4
In a recent article in Genetics in Medicine (GIM), Maiese et al. reported the findings of a survey of the practices of 924 genetics professionals. Compared to data collected a decade ago, the authors found increased caseloads for practitioners and longer wait times for patients seeking genetic services. In this month's episode of GenePod, GIM's monthly podcast, host Cynthia Graber talks with co-authors Deborah Maiese, evaluator for the National Coordinating Center for the Regional Genetics Networks, and Dr. Michael Watson, executive director of the American College of Medical Genetics and Genomics, about strategies to address shortages in the medical genetics workforce and how technology is being used to improve access to genetic services for underserved populations.
Related article: https://www.nature.com/articles/s41436-018-0417-6
Over the past decade, the use of the term 'food addiction' to describe an unhealthy approach to eating has grown. It refers to the idea that, for some people, their inability to control their food intake has similarities to that of a drug of abuse. Paul Kenny is the chair of the Department of Neuroscience at the Icahn School of Medicine in New York. He's one of two authors of a recent circumspective in the journal Neuropsychopharmacology. In the piece, Dr. Kenny and his colleague Dr. Paul Fletcher of the University of Cambridge take opposing viewpoints, Dr. Fletcher arguing against the use of the term food addiction, and Dr. Kenny in favor.
Related article: https://www.nature.com/articles/s41386-018-0203-9
Bronchopulmonary Dysplasia (BPD) is a form of Chronic lung disease and results from extreme pre-term birth. Systemic corticosteroid therapy is used postnatally to reduce the severity of BPD, however there is a large range in the phenotypic response to this treatment. In this episode, we speak to Tamorah Lewis, a neonatologist at Children's Mercy Hospital in Kansas City, who aimed to identify pharmacogenetic variants associated with the clinical response to systemic corticosteroid treatment.
Related article: https://www.nature.com/articles/s41390-018-0235-1
Metabolic syndrome has been a growing problem in recent decades in both adult and pediatric populations. Time-restricted feeding (TRF), has been shown to attenuate metabolic disorders and obesity in adults. It is thought to be superior to surgical interventions and other dietary patterns as it is non-invasive, and does not lead to unbearable hunger. However, there is a lack of data on its effects in pediatric populations. In this episode, we meet Dr. Dandan Hu, who during her time at Peking Union Medical College Hospital, carried out an experiment using a paediatric mouse model to assess the effects of TRM on their metabolism and microbiota. The results were unexpected.
Related article: Time-restricted feeding causes irreversible metabolic disorders and gut microbiota shift in pediatric mice https://www.nature.com/articles/s41390-018-0156-z
Little is known about the prevalence and economic impact of genetic disorders in children. In this month's episode of GenePod, Cynthia Graber interviews Dr. Nina Gonzaludo about the prevalence of genetic disorders in a large population of hospitalized children. Dr. Gonzaludo discusses the disproportionate use of healthcare resources by patients likely to have genetic disorders and the possibility that genetic testing might reduce the cost to the healthcare system.
Related link: Estimating the burden and economic impact of pediatric genetic disease https://www.nature.com/articles/s41436-018-0398-5
While there is little doubt that the grey wolf is one of the world's most iconic species, it is equally true that it is one of the world's most reviled. This later sentiment has seen them extirpated from much of their former habitat. However, in a few places, wolves are making a comeback. In this episode, Sarah Hendricks, Dr Rena M. Schweizer and Prof. Robert Wayne discuss their recent research exploring the genetic history of naturally re-established wolf populations in the US states of Oregon and Washington: their discovery that some of these populations represent a genetic mixing of two distinct ecotypes presents challenges for current conservation policy in the country, and raises the question: what wolf belongs where?
Related article: https://www.nature.com/articles/s41437-018-0094-x
Every winter, geneticists from around the world brave the unpredictable weather to gather for the annual Population Genetics Group Conference. This year, Oxford Brookes University played host to the 52nd such meeting, and with a delegate list of almost 250 researchers, a programme of 106 talks, and around 41 posters, it proved to be a three day celebration of the latest and greatest research in the field of population genetics. In this episode, we hear from the conference organisers, the renowned plenary speakers, and the student prize winners. So settle in and listen to this Heredity Podcast special on PopGroup 52!
Related article: 27 years of prenatal diagnosis for Huntington disease in the United Kingdom https://www.nature.com/articles/s41436-018-0367-z
Metabolomics has the potential to identify specific targets for primary prevention of metabolic disease. Studies in adults have shown that lean vs obese people show distinct differences in their metabolite composition, sometimes preceding the development of established risk factors associated with metabolic disease. The literature in paediatric populations, however is scant.
In this episode, we speak to Prof. Wei Perng, who during her time at the University of Michigan School of Public Health, examined the associations between metabolite composition and metabolic risk across adolescence.
Related links: https://www.nature.com/articles/s41390-018-0195-5 https://www.nature.com/articles/s41390-018-0232-4
Pediatric asthma is a chronic, heterogeneous disease that can be triggered by environmental exposures, leading to urgent medical visits.
Numerous studies have demonstrated increases in emergency department visits and hospitalizations in association with increasing concentrations of outdoor ambient pollutants. Social and environmental stressors have also been shown to be associated with a stronger relationship between environmental pollutants and asthma development and symptoms.
In this study, Dr Lovinski-Desir from Columbia University Medical Center and her team aimed to determine if the relationship between ambient pollutants and urgent visits for asthma varied between New York City neighborhoods with high versus low asthma prevalence.
Related link: https://www.nature.com/doifinder/10.1038/s41390-018-0189-3
As our environment becomes ever increasingly complex, understanding how sex differences impact disease risk and resilience will only become more critical. The 2019 Neuropsychopharmacology Reviews, "Sex Matters," edited by Dr. Tracy L. Bale, highlights the causal and mechanistic value in cases where significant sex differences are found, as well as when they're not; where sex differences may arise at one period of life and disappear in another. Additionally, this podcast, as well as the special issue, reinforces the message that males are not the control, and females are not more variable. The value is in appreciating the difference. Sex matters.
Special issue link: https://www.nature.com/npp/volumes/44/issues/1
In this episode, we meet Kristin Keunen from The University Medical Centre Utrecht. She and her team used postnatal neuroimaging to map early developmental trajectories of structural brain wiring in preterm and full-term neonates.
The study provides valuable insights into the early stages of structural connectome development.
Related article: https://www.nature.com/articles/s41390-018-0138-1
Related article:
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes https://www.nature.com/articles/s41436-018-0380-2
With their delicate, trumpet shaped flowers that open to greet the rising sun, the morning glory has long been a horticultural favourite. Unfortunately, the quick growth and hardy nature of these plants has made them a noxious invasive weed in many parts of the world, with particularly damaging impacts on crop agriculture. Here, Dr Diego Alvarado Serrano, from the University of Michigan, discusses his recently published research on the genetic connectivity of the tall morning glory in the Eastern United States, which he and his collaborators hope will help to curtail the spread of both the plant itself and herbicide resistant genes.
Related article: https://www.nature.com/articles/s41437-018-0106-x
Southern right whales have had a rough few centuries, being brought to the brink of oblivion more than once by the whaling industry. Before that, climatic shifts likely played havoc with their coastal breeding grounds. What impact did these events have on their population genetics and connectivity? These are the questions being tackled by Dr Emma Carroll and Prof. Oscar Gaggiotti. Join them as they discuss their recent attempt to unravel the demographic history of this enigmatic migratory species. (Dr Carroll is currently in the South Atlantic Ocean collecting more data on southern right whales; why not check out their field blog at whalednalab.auckland.ac.nz
Related article: https://www.nature.com/articles/s41437-018-0077-y
What makes a beetle red? Or metallic? Or striped? And why display such a diversity of colour patterns within one species? These are the questions being asked by Lynette Strickland, a PhD candidate at the University of Illinois at Urbana-Champaign and a Pre-doctoral fellow at the Smithsonian Tropical Research Institute. Join us as we discuss her recent research on the genetic and ecological basis of colour polymorphisms in the tortoise beetle, Chelymorpha alternans.
Related article: https://www.nature.com/articles/s41437-018-0149-z
Europe's 102 million domestic cats were spread across the continent by the Roman Empire. At least, that was the consensus. However, new genetic, archaeological, and archaeozoological evidence suggests that our feline friends were present in Central Europe thousands of years earlier than previously thought. How did they get there? And what does this mean for our understanding of cat domestication? Join us as we talk to three of the authors behind this new fascinating research.
Related article: https://www.nature.com/articles/s41437-018-0071-4
Related article:
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested https://www.nature.com/articles/s41436-018-0343-7
Aggression is an evolutionary behavior seen throughout the animal world. When it comes to humans, however, some forms of aggression can be seen as pathological, dangerous, and quite costly to society. And yet there's a dearth of approved, effective treatments for aggression. Meghan Flanigan is a graduate student at the Icahn School of Medicine at Mount Sinai and one of the authors of a new article in the journal Neuropsychopharmacology, titled "Recent advances in the study of aggression," in which she argues that there isn't much data about the causes of abnormal aggression in humans, and part of the problem has been that it hasn't been modeled well in animals.
Related article: https://www.nature.com/articles/s41386-018-0226-2
In this episode we explore a hybrid approach for genotyping one of the most variable parts of the vertebrate genome: the major histocompatibility complex (MHC). Join Dr Silvia Fuselli (University of Ferrara) and Dr Rodrigo Baptista (University of Georgia) as they explain their work combining the best aspects of both next and third generation sequencing platforms—an approach that is bringing us ever closer to solving the genome puzzle.
Related article: https://www.nature.com/articles/s41437-018-0070-5
Telemedicine is estimated to be used in 25% of patient-doctor interactions. It has benefits, including patient's not having to travel and being seen by healthcare professionals when community clinics are closed. But it is considered a high-stress clinical activity and involves decision making under conditions of uncertainty and urgency.
In this episode, we speak to Motti Haimi, a Pediatrician and hemato-oncologist at the Clalit Health Services in Israel. He and his team conducted a qualitative assessment of a Pediatric Telemedicine Service operating in Israel in order to assess challenges according to the physicians themselves.
Related article: https://www.nature.com/articles/s41390-018-0117-6
Related article:
Frequency and signature of somatic variants in 1461 human brain exomes
https://www.nature.com/articles/s41436-018-0274-3
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
Related article: https://www.nature.com/articles/s41436-018-0265-4
PhD candidate Shannon Kjeldsen, from James Cook University, discusses the ecology, history, population genomics and conservation of an iconic Australian species: the koala! Exciting things are also happening at Heredity Podcast HQ—the way we bring you the latest and greatest genetics research is about to get a whole lot better!
Related article:
Genomic comparisons reveal biogeographic and anthropogenic impacts in the koala (Phascolarctos cinereus): a dietary-specialist species distributed across heterogeneous environments https://www.nature.com/articles/s41437-018-0144-4
This episode is a celebration of the Heredity Special Issue: Evolutionary Consequences of Epigenetic Inheritance. Join us as we talk about the motivation behind the Special Issue with Editor Dr Foteini Spagopoulou. Then, PhD student Erin Macartney discusses the role of paternal epigenetic inheritance—a particular focus of the issue— and Dr Yuan-Ye Zhang explains her experiential work on the evolutionary potential of epigenetic variation. Importantly, this episode also celebrates the achievements of ambitious students. Tune in and find out what we mean!
Related articles:
Epigenetic paternal effects as costly, condition-dependent traits https://www.nature.com/articles/s41437-018-0096-8
Understanding the evolutionary potential of epigenetic variation: a comparison of heritable phenotypic variation in epiRILs, RILs, and natural ecotypes of Arabidopsis thaliana https://www.nature.com/articles/s41437-018-0095-9
The relationship between birth-weight and heart disease is well documented and is thought to arise from altered developmental trajectories leading to persistent deficits in organ structure and function. Most animal studies looking at the effects of adverse in utero environment have been studied in the context of fetal hypoxia. Less is known regarding the cardiac consequences of maternal malnutrition, a common cause of fetal growth restriction. In this episode, ECI Dr. Brian Stansfield from Augusta University, Georgia, US and his team use a new guinea pig model to test the effects of global maternal nutrient restriction spanning pre-gestation, gestation, and lactation.
Related link: https://www.nature.com/articles/s41390-018-0069-x
Related article:
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants https://www.nature.com/articles/s41436-018-0129-y
Paradigm shifts in newborn screening? https://www.nature.com/articles/s41436-018-0130-5
Related link:
The impact of variant classification on the clinical management of hereditary cancer syndromes https://www.nature.com/articles/s41436-018-0063-z
While the influence of sweet taste on neurocognitive function has been widely studied, umami or savory has received less of a research focus. Animal models and even some small human studies seem to show that umami given in a broth before a meal can influence appetite and food intake. And this inspired Dr. Miguel Alonso-Alonso, Assistant Professor and Director of the Laboratory of Bariatric and Nutritional Neuroscience at Beth Israel Deaconess Medical Center and Harvard Medical School. He and his colleagues decided to test the influence of glutamate on behavior and food choice, as well as the neurocognitive mechanisms that might be affecting such behavioral changes.
Related article: https://www.nature.com/articles/s41386-018-0044-6
This episode of the Heredity Podcast is all about applying new genetics methods to understudied organisms! Join us as we explore a novel metric for evolutionary and conservation genetics with salp expert Dr William Goodall-Copestake (British Antarctic Survey). Then stick around to hear Prof. Brad Shafer and Dr Evan McCartney-Melstad (University of California, Los Angeles) discuss their recent application of genomics tools when revisiting the population genetics of a Californian frog.
Related articles:
nrDNA:mtDNA copy number ratios as a comparative metric for evolutionary and conservation genetics https://www.nature.com/articles/s41437-018-0088-8
Population genomic data reveal extreme geographic subdivision and novel conservation actions for the declining foothill yellow-legged frog https://www.nature.com/articles/s41437-018-0097-7
During her PhD Maria Luisa Tataranno performed research into early biomarkers of brain development in preterm neonates. Now a fellow of neonatal neurology of the Wilhelmia Children's Hospital in Utrecht, the Netherlands, Maria and her team have published a paper into the associations between early brain activity and changes in brain morphology and microstructure.
In this episode, Maria tells us about her career as a clinical scientist and advocates the early monitoring of preterm neonate brain activity with electroencephalography.
Article link: https://www.nature.com/articles/pr20187
Patients with sickle cell disease often experience severe pain as a result of vaso-occlusive episodes. Typically their pain is managed with opioids, however some patients experience continued and increasing pain, believed to be as a result of opioid-induced hyperalgesia or tolerance. Many patients go on to develop chronic pain which is thought to have a neuropathic component, for which opioids are ineffective.
Ketamine has been suggested as an adjuvant to opioids to treat chronic and acute pain.
In this episode, we meet an Early Career Investigator, Dr. Raissa Nobrega, who has a passion for paediatric pain management and who recently published an exploratory study into the patient characteristics that affect the response to ketamine and opioids in these patients.
Article link: https://www.nature.com/articles/pr2017283
Obesity has been shown to be linked with a host of physiological and psychological problems, such as cancer, diabetes and depression. In adults, obesity has also been shown to be related to decreased cognitive function and structural brain differences. The evidence for this effect on cognition is less well established in children and adolescents. In this episode we meet Dr. Stijn Vantieghem from the ARCS research group at the Vrije Universiteit Brussel who conducted a 30 week weight-loss program for obese adolescents to test its effects on their cognitive function.
Article link; https://www.nature.com/articles/s41390-018-0047-3
Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the United States. It's all been steadily rising, along with rising obesity levels. Currently, early interventions for NAFLD include dietary, lifestyle counselling, and vitamin supplementation.
Recent evidence suggests that the gut microbiota may be involved in the pathophysiology of non-alcoholic fatty liver disease.
In this episode, we hear from ECI Maggie Stanislawski from the University of Colorado on her work to expand the options for early intervention into this condition.
Article link: https://www.nature.com/articles/pr201832
In this month's episode of the Heredity Podcast we are all about the mouth! First, we discuss the genetics underlying molar teeth development and inhibition with French morphometrician Dr Nicolas Navarro. Following this, Brazilian researcher Dr Maria Marta Pastina explains all about an emerging plant breeding method called genomic selection, and how her team is using it to develop more drought tolerate maize crops. Finally, make sure to stick around to the end of the episode to hear a short message directed at you, the listener, and discover how you can be featured on the podcast.
Related articles:
Genetic mapping of molar size relations identifies inhibitory locus for third molars in mice https://www.nature.com/articles/s41437-017-0033-2
Improving accuracies of genomic predictions for drought tolerance in maize by joint modeling of additive and dominance effects in multi-environment trials https://www.nature.com/articles/s41437-018-0053-6
TB was responsible for 1.8 million deaths in 2015, of which children account for almost 10%. A large proportion of TB patients go undetected in high burden countries due to the poor sensitivity of the smear microscopy used to detect the disease.
Paediatric cases are often harder to detect because children produce lower quality sputum samples needed for the smear microscopy. As a result, many children with TB go untreated, and the vast majority of children treated for TB are treated empirically.
Georgies Mgode, a research fellow at Sokoine University of Agriculture, Morogoro, Tanzania, and his team have tested the use of trained Giant African Pouch rats as an enhanced case finding tool after smear microscopy.
NICU Network Neurobehavioral Scale: 1-month normative data and variation from birth to 1 month
Livio Provenzi is based at the Scientific Institute IRCCS Eugenio Medea in Italy, where he is involved in the Preterm Behavioral Epigenetics Project, a longitudinal research project in very pre-term infants looking at the long and short-term epigenetic and behavioral effects of painful and invasive procedures during the NICU stay.
Livio and his colleagues sought to provide normative neurobehavioral data for healthy infants over the first month of life using the Neonatal Intensive Care Unit Network Neurobehavioural Scale (NNNS).
Acquiring normative comparisons for at-risk populations (e.g. pre-term infants) is key for behavioral studies and for research on early epigenetic biomarkers of developmental risk.
Related article: https://www.nature.com/articles/pr201825
This month's GenePod focuses on new, extensive data of intragenic deletion/duplication analysis in over 143,000 individuals. Such data are helping to sort out innocent del/dups from those causative of disease and reinforce the need to perform such analysis as part of genomic testing to determine disease etiology.
Related articles: Prevalence and properties of intragenic copy-number variation in Mendelian disease genes https://www.nature.com/articles/s41436-018-0033-5
Related articles:
Attention: Direct-To-Consumer patrons: Proceed with caution https://www.nature.com/articles/s41436-018-0030-8
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care https://www.nature.com/articles/gim201838
Burst activation of dopamine neurons produces prolonged post-burst availability of actively released dopamine
For years now, scientists have noticed a rather strange phenomenon in animal models: scientists would stimulate dopamine production in the brain, but once the stimulation was over, the dopamine would remain. Bita Moghaddam is chair and professor of behavioral neuroscience at Oregon Health and Science University. She says that when dopamine is released, dopamine transporters take the dopamine back up into cells so it can be synthesized and broken down. So scientists had assumed that the dopamine that remained for those twenty minutes was just leftover dopamine from the original activation. But in theory the dopamine transporters should be more efficient in taking up the dopamine.
Article link: https://www.nature.com/articles/s41386-018-0088-7
The question of whether neurogenesis persists in humans and for how long — that is, whether and where humans grow new neurons in their brains, and how long into our lives — is one that has engaged neuroscientists for decades. Some papers showed that humans did retain neurogenesis into adulthood, but the issue has been debated. That debate was reignited just recently with the publication of two new studies. The first one, published in Nature, is titled "Human hippocampal neurogenesis drops sharply in children to undetectable levels in adults." Not long after, a second paper was published in Cell Stem Cell, titled, "Human hipoocampal neurogenesis persists throughout aging." To discuss the seemingly contradictory results of these two papers on Neuropsychopharmacology's BrainPod are Dr. Lisa Monteggia, professor of neuroscience at UT Southwestern Medical Center, and Dr. Christoph Anacker, assistant professor in clinical neurobiology at Columbia University.
Welcome to the first episode of the newly revamped Heredity podcast! What is the journal Heredity? How conserved is the molecular basis of spider silk? And what effect does the creation of human-made river barriers have on the genetic diversity of low-mobility fish populations? Tune in to hear discussions with the editors behind the journal and the people behind the research in June's edition of Heredity.
Featured articles:
Conservation of a pH-sensitive structure in the C-terminal region of spider silk extends across the entire silk gene family https://www.nature.com/articles/s41437-018-0050-9
Artificial barriers prevent genetic recovery of small isolated populations of a low-mobility freshwater fish https://www.nature.com/articles/s41437-017-0008-3
A major source of second hand smoke (SHS) exposure in infants is the home. Some parents are aware of this risk and make efforts to minimise the exposure by employing a total ban on smoking in the home. However many families opt for a partial smoking ban, only smoking in certain rooms, at certain times, or at certain distances from the child and practice avoidance behaviours like opening windows.
In order to better understand how parents' smoking behaviours affected SHS exposure in children, Dr Yi Nam Suen from the University of Hong Kong, Hong Kong, and her team developed a questionnaire for non-smoking mothers with young infants, and measured salivary cotinine levels in their infants.
Related article - https://www.nature.com/articles/pr2017279
There are approximately 130,000 infants hospitalised each year in the US due to bronchiolitis. The majority of these cases are caused by either rhinovirus or respiratory syncytial virus (RSV). Rhinovirus is associated with increased risks of acute and chronic respiratory outcomes compared with RSV, however the underlying mechanisms remain unclear.
In this episode, Kohei Hasegawa from the department of emergency medicine at the Massachusetts General Hospital, discusses his recent experiment aimed at unravelling the underlying mechanisms between the two viruses' different outcomes by comparing the nasal airway microRNA profiles of infants infected with either virus.
Related article - https://www.nature.com/pr/journal/vaop/ncurrent/full/pr2017309a.html
Related article: Representing a “revolution”: how the popular press has portrayed personalized medicine https://www.nature.com/articles/gim2017217
Related article -
Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization
https://www.nature.com/articles/gim201823
There's a technology that's proven to be increasingly useful in the past decade — it's called DREADD, or "designer receptors exclusively activated by designer drugs." The current approach is to create a designer receptor that is unlocked by the drug, clozapine-n-oxide, or CNO. Researchers have used it to study the function of populations of neurons or of particular pathways in the brains in rodents, by using the DREADD technique to turn on and off these neurons or pathways. However, last year, a paper published in the journal Science called the use of DREADDs into question. Some people interpreted the paper as an overall indictment of the DREADD technology, though this wasn't the original intent of the authors. Listen to Neuropsychopharmacology's latest podcast to learn more!
Article link: https://www.nature.com/articles/npp2017299
Over the past twenty years, new sciences have developed around the delivery of high quality, safe healthcare, and Pediatric Research has recognized these developments with the creation of a new section dedicated to research in these areas. In this episode, we discuss the Quality and Patient Safety section with newly-appointed editor, Peter Lachman.
Related article: https://www.nature.com/articles/pr2017282
Related articles:
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype https://www.nature.com/articles/gim2017200
Mosaic disorders and the Taxonomy of Human Disease https://www.nature.com/articles/gim2017213
Relating to article: Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results https://www.nature.com/articles/gim2017219
One system which is thought to falter in preterm neonates is the cerebrovascular autoregulatory system, which helps to maintain a constant supply of oxygen to the brain. When this system falters in the setting of hypotension, it can lead to intraventricular haemorrhage, which in turn, can lead to serious neuro-developmental impairment. In this episode, we meet Zachary Vesoulis, a Pediatrician at Washington University in St. Louis, who recently published a Pediatric Research paper testing the effects of gestational age on the cerebrovascular autoregulatory system. We also discuss what Zach sees as a missed opportunity to collect data in the clinic.
Article link: https://www.nature.com/articles/pr2017196
It has been known for over 20 years that antidepressant exposure in utero may be associated with poor neonatal adaptation and discontinuation like symptoms in neonates. Poor neonatal adaptation syndrome, or 'PNAS' presents as a distinct set of gastrointestinal, neurological and respiratory symptoms. In this episode we meet Professor Megan Galbally, Foundation Chair in Perinatal Psychiatry at the University of Notre Dame, to discuss her recent Pediatric Research paper examining the use of the Neonatal Abstinence Scoring System in assessing neonates exposed to antidepressants in utero and providing some rare long-term follow up of these children's developmental outcomes at 6 months. We also discuss a commentary article from the Pediatric Policy Council on this topic, and how her study can be expanded upon by following these results further with the children, preferably up to adulthood.
Article links:
Neonatal adaptation following intrauterine antidepressant exposure: assessment, drug assay levels, and infant development outcomes https://www.nature.com/articles/pr2017156
Influences of medications on the developing fetus: toward deciphering the unknowns https://www.nature.com/articles/pr2017199
Related article:
The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis https://www.nature.com/articles/gim2017180
Related article:
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study https://www.nature.com/articles/gim2017132
The 2018 issue of Neuropsychopharmacology Reviews, "Cannabis and Cannabinoids: From Synapse to Society," showcases the remarkable advances in the biology of cannabinoids and cannabis in the past two decades, ranging from their impact at the synaptic level through to public health.
Edited by Margaret Haney and Matthew N Hill, this issue represents current findings across several major research areas, contributing novel insights into psychiatric illness treatment and a data-driven perspective relevant to public policy changes occurring worldwide.
Neuropsychopharmacology Reviews: http://www.nature.com/nppr/index.html
Veerajalandhar Allareddy is a pediatric cardiac critical care physician in the Stead Family Children's Hospital, University of Iowa. In recent years, he has become interested in marrying his clinical work with studies into public health issues in pediatrics, which he believes are under researched and under reported.
In this episode we discuss one such issue: the rising trend of opioid abuse in children across the US.
Article link: https://www.nature.com/articles/pr2017169
Many people who exercise regularly have experienced a so-called "runner's high," either a feeling of euphoria after exercise, or a feeling of happiness and well-being. Scientists have studied this and found that exercise does indeed improve mood and combat stress, for instance, but researchers at Finland's University of Turku wanted to know: Are endorphins being produced in and thus affecting the brain? To try to answer this question, the team labeled a drug that can bind to endorphin receptors in the brain and compete with endogenous endorphins. So if the study subjects were producing endorphins in the brain, the drug binding should be reduced. Listen to Neuropsychopharmacology's latest podcast to learn more!
Article: Opioid Release after High-Intensity Interval Training in Healthy Human Subjects https://www.nature.com/articles/npp2017148
Studies have shown that stress and trauma early in life can lead to an increased risk for drug addiction later in life. In rat models developed to mimic and study this effect, some rats received normal maternal care, while others received enriched maternal care - extra grooming and attention from their mothers. Those with enriched maternal care have been shown to be less likely to return to a room in which the rats received a dose of morphine. But does that accurately represent drug use? They've also been shown to have neurological changes in the brain - but these changes have been correlational. A new study published in the journal Neuropsychopharmacology was set up to tease out a number of aspects of this research.
Article: Opioid Self-Administration is Attenuated by Early-Life Experience and Gene Therapy for Anti-Inflammatory IL-10 in the Nucleus Accumbens of Male Rats https://www.nature.com/articles/npp201782
Related articles:
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes https://www.nature.com/articles/gim2017121
Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening? https://www.nature.com/articles/gim2017161
Related articles:
Genomic diagnostics within a medically underserved population: efficacy and implications https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201776a.html
Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201796a.html
Related article: A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017104a.html
Hypoxia-ischemia (HI) is a major cause of neurological damage in preterm neonates. Physical exercise in mothers serves as a non-pharmacological intervention to counteract obesity, hypertension, and other such risk factors for prematurity. For this reason, women are widely encouraged to swim throughout their pregnancy. In this episode, Eduardo Farias Sanches discusses how he and his team wanted to test the neuroprotective effects of pregnancy swimming against the damage caused by HI and to understand possible mechanisms behind these effects.
Article: http://www.nature.com/pr/journal/v82/n3/full/pr2017110a.html
Simone Schüller is a pediatrician at the Boston's Children Hospital. She was awarded the Max Kade fellowship to conduct research into neonatal innate immune pathways to aid the development of vaccines for the very young. Previously, Simone was at the Medical University of Vienna, where she recently completed her residency and clinical training. In this episode, we hear how she has strengthened her laboratory experience over the years in a number of countries and has used some of these in vitro skills in a recent Pediatric Research paper about the effect of Pentoxyfylline on the preterm infant immune system in a model of sepsis.
Article - http://www.nature.com/pr/journal/v82/n2/full/pr201741a.html
Electronic cigarettes are used almost as much as conventional cigarettes in some parts of the world and are particularly popular among young people. They are often advertised as a means of stopping smoking but there is a lack of consistent evidence for this claim. In this episode, we hear from Dr. Man Pin Wang from the School of nursing, University of Hong Kong. He and his team performed a longitudinal study of adolescents that called the Youth Quitline in Hong Kong, in order to investigate the links between e-cigs and quitting smoking in this population.
Article - http://www.nature.com/pr/journal/v82/n1/full/pr201780a.html
Molecular autopsy in maternal-fetal medicine - https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017111a.html
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201714a.html
Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201737a.html
Sources of discordance among germ-line variant classifications in ClinVar https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201760a.html
A new era in the interpretation of human genomic variation https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201790a.html
One method of treating Post-traumatic stress disorder (PTSD) involves extinction therapy, but researchers have found that the timing of such therapy is extremely important, and that it often doesn't work if the therapy is conducted too soon after the initial trauma. Stress itself may be harming the efficacy of the treatment. A team of researchers at Texas A&M University conducted research to determine whether there was a way to dampen stress and make extinction therapy more effective by using pharmaceuticals. The results were published in a recent issue of the journal Neuropsychopharmacology. Listen to the latest podcast to hear about this study from researchers Stephen Maren and Tom Giustino!
Article: β-Adrenoceptor Blockade in the Basolateral Amygdala, But Not the Medial Prefrontal Cortex, Rescues the Immediate Extinction Deficit - https://www.nature.com/npp/journal/vaop/ncurrent/full/npp201789a.html
This is the first in a series of bi-monthly episodes centered around an Early Career Investigator who publishes in the journal. This month, we meet Dr. Adam Frymoyer, a clinical assistant professor in the department of pediatrics at Stanford University. He describes himself as a 39 year old physician-scientist, passionate about promoting the safe and efficacious use of therapeutic drugs in neonates and children. He has established a cross-disciplinary research program that focuses on the application of clinical pharmacokinetics and pharmacodynamics to guide therapeutic decision making in children.
Article link: http://www.nature.com/pr/journal/v81/n6/full/pr201760a.html
Neonatal sepsis is a common cause of mortality in newborns. Often, it is the inflammation in response to the pathogen, rather than the pathogen itself, that causes the most harm to the sick patient. Neonatal sepsis is currently treated with corticosteroids but they come with a significant number of adverse effects. One promising new anti-inflammatory drug is a phosphodiesterase inhibitor called pentoxyfylline. Esther Speer, a pediatrician specialized in neonatology at Stony Brook Children's Hospital, carried out an in vitro study using cord blood from healthy-term neonates, providing further evidence that pentoxyfylline represents a promising alternative to corticosteroids.
Article link: http://www.nature.com/pr/journal/v81/n5/full/pr20176a.html
Autism Spectrum Disorder is a disorder that has been defined by the medical community, but so far, none of the medications available for ASD treat the core symptoms of the disease, but rather secondary symptoms such as agitation or hyperactivity. Because ASD is genetically linked to Fragile X syndrome, researchers noticed that in a mouse model, the drug arbaclofen reduced what would be core symptoms of autism, such as combatting social avoidance and improving social function. A randomized placebo-controlled trial was conducted to test this idea and the results were recently published in Neuropsychopharmacology. Listen to the latest BrainPod to hear Dr. Jeremy Veenstra-VanderWeele discuss these results!
Article: Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial https://www.nature.com/npp/journal/v42/n7/full/npp2016237a.html
This Genetics in Medicine podcast discusses the following article:
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201733a.html
This Genetics in Medicine podcast discusses the following article:
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201731a.html
Discussion on these articles:
Contrasting patterns of population structure and gene flow facilitate exploration of connectivity in two widely distributed temperate octocorals https://www.nature.com/hdy/journal/vaop/ncurrent/full/hdy201714a.html
Air-borne genotype by genotype indirect genetic effects are substantial in the filamentous fungus Aspergillus nidulans https://www.nature.com/hdy/journal/vaop/ncurrent/full/hdy20179a.html
This month, discussion on:
Genetically diverse newts https://www.nature.com/hdy/journal/v118/n5/full/hdy2016123a.html
Bt toxin resistant moths https://www.nature.com/hdy/journal/v118/n4/full/hdy2016104a.html
How fruit fly genes can influence their social experiences https://www.nature.com/hdy/journal/v118/n4/full/hdy2016101a.html
How birch trees might be taking a leaf out of the bacterial book to fight off toxic metals https://www.nature.com/hdy/journal/v118/n4/full/hdy2016106a.html
The gateway hypothesis, that early use of drugs such as tobacco, alcohol, or marijuana during adolescence progresses to harder drugs such as cocaine and heroin, was first proposed in the 1970s. In a recent publication of the journal Neuropsychopharmacology, Yasmin Hurd, Professor of Neuroscience at Mount Sinai, co-authored a commentary evaluating the research to date that either supports or challenges the gateway hypothesis. Listen to the latest BrainPod, Neuropsychopharmacology's official podcast, to hear more from Dr. Hurd!
Article: https://www.nature.com/npp/journal/v42/n5/full/npp2016279a.html
The National Institutes of Health recently published a statement requiring sex as a biological variable in studies. This is in part simply because it's good science, and in part to correct for decades in which both animal and human studies were largely conducted with male subjects. In their review paper responding to this statement, Dr. Tracy Bale and Dr. Neill Epperson discuss how sex has a direct impact on brain development, and how it results in a sexually dimorphic brain: meaning there are physical differences between males and females. Listen to the latest BrainPod, Neuropsychopharmacology's official podcast, to hear Dr. Bale and Dr. Epperson discuss this topic!
Article: http://www.nature.com/npp/journal/v42/n2/full/npp2016215a.html
The 2017 issue of Neuropsychopharmacology Reviews, "The Immunology of Behavior—focuses on the growing appreciation of the immune system in understanding brain and health illness.
This podcast synthesizes this year's issue, which showcases a wide range of reviews about the relationship between immunology and brain and health illness, demonstrating how advances in our understanding of immunology have led to novel insights into psychiatric illnesses and their treatment. Hear more from Andrew H Miller, Ebrahim Haroon, and Jennifer C Felger, the editors of this NPPR issue!
Neuropsychopharmacology Reviews: http://www.nature.com/nppr/index.html
LSD is not only a well-known psychedelic drug, but it was also studied extensively for its potential in psychotherapy in the early days of its use, about fifty years ago. Those early studies didn't necessarily meet today's standards for clinical trials, and previous research ended in the 1970s, due to changing regulations and a prohibition against LSD. Today, LSD is once again being studied for its therapeutic use, this time in a carefully controlled clinical setting. In a recent study, a team of researchers investigated LSD's effects on fear recognition, emotional empathy, and sociality. Listen to the latest BrainPod, Neuropsychopharmacology's official podcast, to hear Dr. Matthias Liechti discuss this study!
This Genetics in Medicine podcast discusses the following article:
The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016194a.html
This podcast discusses the following Genetics of Medicine article:
Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016202a.html
This Genetics in Medicine podcast discusses the following articles:
Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016182a.html
Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016175a.html
This Genetics in Medicine podcast discusses the following articles:
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016143a.html
The need for a next-generation public health response to rare diseases https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016166a.html
The legality of medical and recreational marijuana use is on the rise across the US, and this has led to an increase in its usage. But the effects of second hand marijuana smoke on young infants is unknown. Taking advantage of a newly developed high sensitivity assay, Karen Wilson, a pediatrician at the Icahn School of medicine, Mount Sinai, New York, showed that 16% of a cohort of young children hospitalized with bronchiolitis between 2013 and 2015, showed detectable levels of secondhand marijuana smoke metabolites in their urine and are potentially at risk for negative health effects.
Article link: http://www.nature.com/pr/journal/v81/n4/full/pr2016261a.html
We know that drugs can work differently in adults and in children. But in newborns? We know their physiology is different, and that can affect how drugs are metabolized and processed; for instance, their heart doesn't respond as readily to drugs meant to increase its force. But neonates are often excluded from studies of medicinal products. Clinicians need more specific guidelines as to how to study and use drugs in this vulnerable population. Robert Ward, professor emeritus of pediatrics at the University of Utah in Salt Lake City, chaired a consortium of experts and created a White Paper to guide clinical trials of medicines in neonates. Hear him discuss the current guidelines and his recommendations in this episode.
Hear an interview with Geisinger Health System's Jennifer Wagner, who discusses her recent publication in Genetics in Medicine which addresses how to get the most out of the Precision Medicine Initiative.
Genepod: Investigating the lower risk of solid tumors in Down Syndrome by Springer Nature
Genepod: September 2016: An RTC evaluating simvistatin for treatment of Smith-Lemli-Optiz Syndrome by Springer Nature
Researchers in pediatrics have much to be proud of from their last four decades of work. From cutting fatalities from Sudden Infant Death Syndrome, to vaccinations that have protected the lives of millions, Dr. Tina Cheng and colleagues believe that these achievements would not have been possible without a strong research base. Hear more from Tina in this podcast.
It's not just biology that determines the health of an infant or child - and the adult they will become. Social and environmental factors such as parenting, the home environment, substance use in the home or child abuse can have important impacts on pediatric health and later life repercussions. The January 2016 issue of Pediatric Research features several reviews on the social determinants of health. Guest editor Margie Skeer talks through a few examples
This week, solving ethical dilemmas Star Trek style, farming festivals boost yield, and three scientists on their sci-fi inspirations.
This week, famous hominin Lucy may have died when she fell from a tree, and an antibody-based drug shows promise in Alzheimer’s
Genepod: August 2016 - New Guidelines for Noninvasive Prenatal Screening from the ACMG by Springer Nature
This week, a nearby potential Earth-like planet, preprint servers proliferate, and the scientific legacy that Obama leaves behind.
This week, how fins became limbs, a giant gene database cracks clinical cases, and making better opioids.
This week, the migration route of the first Americans, the bandwidth crisis, clever conductors, and the next CRISPR.
This week, parenting tips from science, quenching a question about thirst, and a programmable quantum computer.
Smartphones have become nearly ubiquitous in the United States. These mini-computers that we carry around in our bags or pockets have the potential to dramatically influence the practice of medicine, including psychiatry. A team of researchers is currently investigating the use of smartphones for what's known as digital phenotyping, or the continuous monitoring of someone's status via a personal digital device, to enhance behavioral and mental health.
Listen to this month's BrainPod to hear Dr. JP Onnela discuss how digital phenotyping is crucial for studying mental health disorders.
This week, how we time our breathing, working with indigenous peoples, and using yeast genetics to build better beer.
A baby's healthy growth depends on receiving the right balance of energy and nutrients. If a baby is born pre-term, its carers must provide the nutrition it would otherwise have received in the womb. Surprisingly, there is very little consistency in studies of neonatal nutrition and growth regarding how much energy and nutrients should be administered to preterm infants, and the expected growth trajectories. A team from the University of Auckland in New Zealand have looked at 22 studies and developed a way to standardize this information. www.nature.com/pr/index.html
This week, the perils of tech in health, tumour fighting bacteria, and the science of what sounds good.
This month, Asian tiger mosquitos and Dutch house sparrows. http://www.nature.com/hdy/index.html
This week, a special issue on conflict. The psychological toll of war, how to count the dead, and predicting conflict in the 21st century.
It's usually the job of the researcher to devise a hypothesis, set up a trial, and collect data. But in participatory research, some of this power is handed to the study participants; in the case of paediatric research, it's given to children. The idea is to have children play an active role in the questions being asked, the data collection process, and any actions that result from a study. A new paper sets out to find examples of participatory research in paediatrics and gives suggestions on best practices. www.nature.com/pr/index.html
The brains of preterm babies are delicate - and mysterious. It can be difficult to assess what is happening in the brains of babies born preterm, in order to work out the best course of action. The SafeboosC II trial tested whether using a brain imaging technique called NIRS (Near Infrared Spectroscopy) on preterm infants could guide diagnosis, and whether it could help reduce the burden of hypoxia. It had the desired clinical effect - but two biomarkers of brain injury were not reduced in line with the burden. Researchers Gorm Greisen and Anne Mette Plomgard discuss this unexpected result. www.nature.com/pr/index.html
This week, nature and landscape, the Hitomi satellite’s swan song, and reforming peer review.
In the podcast this week, Dolly the sheep’s legacy, the trials of funding interdisciplinary research, and an 'IPCC' for social science.
In the podcast this week, transmissible cancer, organizing the hadron menagerie, and the latest gravitational wave result and what physicists want to know next.
In the podcast this week, “blinging” protein footballs, conserving coral reefs, adapting metalloenzymes and what has the EU ever done for research?
In the podcast this week, training misbehaving academics, the hobbit’s ancestry, creating a human genome from scratch and Google’s quantum computing plans.
This month's edition of GenePod, Genetics in Medicine's podcast, focuses on sorting out hype from reality in the use of CRISPR for human genome modification. Listen to an interview with Dr. Cecile Janssens about the limits of human genome engineering, even by powerful techniques such as CRISPR. www.nature.com/gim/index.html
Humans all over the world are born with malformations regardless of their particular ethnicity or ancestry, but the medical literature and the resources currently available depicting human malformation have been heavily slanted towards patients with western European ancestry. Maximilian Muenke and colleagues have now begun to remedy this deficiency in the medical literature with a global atlas of human malformation. Listen to GenePod, Genetics in Medicine's podcast, for the story behind this important new reference. www.nature.com/gim/index.html
In the podcast this week, the genetics behind a textbook case of evolution, Earth's core conundrum, and Pluto's polygonal surface.
In the podcast this week, how clouds form, a Neanderthal construction project, and comparing the meerkats.
In the podcast this week, treasures from sunken cities, new antibiotics made from scratch, a cheap Zika test, and experimenting with history.
In the podcast this week, the Zika virus and birth defects, colliding quasi-particles, and combatting sprawling networks of spam
In the podcast this week, the value of failed experiments, ketamine without side effects, and our brains’ energy demands.
In the podcast this week, a language map of the brain, listening for landslides a year after the Nepal quake, and the Soviet internet that never was.
In the podcast this week, the 1.5 degree temperature target, what to do when climate change ruins your research and ‘dirty mice’.
Lately, scientists have begun to pay closer attention to the numbers of men and women who present at scientific meetings. Even in those fields where women are a majority, men dominate speaking roles; in 2011, a group of leaders in neuroscience fields decided to remedy this situation. By the 2015 annual meeting of the American College of Neuropsychopharmacology, women made up 70% of the plenary speaking roles. Listen to this month's Brainpod to hear Dr. Bita Moghaddam and Dr. Raquel Gur discuss the importance of women at the podium, how their approach was successful, and what challenges still remain. www.nature.com/npp/index.html
"Impact of Stress on the Brain: Pathology, Treatment and Prevention," the 2016 issue of Neuropsychopharmacology Reviews, focuses on advances in our understanding of the impact of stress on the brain: From pathology to circuits, treatment to prevention. Emerging data from genetics, epigenetics, neural circuit and intergenerational models, animal models, and neuroimaging all suggest that stress affects the brain in a variety of dynamic and often long-lasting ways. The effects of these processes on developmental risk for pathology are particularly notable. www.nature.com/npp/index.html
This week, a computer game helps build a quantum computer, the brain's built-in backup, and the history and science of hearing voices.
This week: toggling brain activity with radio waves, how to build stuff that lasts, and making thrillseekers into care-takers.
This week: retrieving lost memories, nailing down China’s emissions, and is Alzheimer’s transmissible?
This week: the frontiers of CRISPR, chewing raw goat for science, and using the eye's own stem cells to fix it.
This week: more fast radio bursts spotted, how do you know where you are when you’re not moving, and listening in on a whale banquet.
This week: a special episode about the future: future-proofing our world, fighting our natural bias towards the present, and changing the biology of future generations.
This week: making shipping greener, AAAS conference highlights and human genes in a Neanderthal.
This week: the end of Moore’s law, religion and cooperation, and shareholders’ duty to manage climate risks.
There has been a recent and notable increase in the non-medical use of new psychoactive substances (NPS), or "designer drugs." Unlike classic drugs of abuse, many NPS were initially developed for research purposes. In this podcast, Drs. Michael Baumann and Nora Volkow discuss the complexities of working with these substances and how, given their genesis, research with NPS could be considered "dual use;" or, potentially utilized for both beneficial and malicious purposes. www.nature.com/npp/index.html
This week: killing off old cells lengthens life, brain-tickling comedy, and new forests make good carbon sinks.
This week: the computer that can play Go, a general ‘ageing’ factor, and the stolen library of John Dee.
This week: a brain sensor that melts away after use, a 10,000 year old murder mystery, and what happens when chickens go wild.
This week: Our gut bugs’ love of fibre, squeezing quantum states, and studying boredom.
It's been 25 years since the ACMG was founded. To mark the occasion, GenePod, the podcast of Genetics in Medicine, focuses on the past and the future of the journal. Podcast director Cynthia Graber interviews Dick King and Jim Evans, respectively the journal's founding and current Editors, regarding what's changed, what hasn't, and what we can look forward to over the next 25 years. www.nature.com/gim/index.html
Marijuana use for medical purposes is becoming increasingly common in the U.S., and doctors prescribe it for ills ranging from headaches to insomnia. And yet, there is little scientific data supporting its medical use. In this podcast, Drs. Margaret Haney and Eden Evins discuss the relationship between cannabis use and two psychiatric disorders: post-traumatic stress disorder and psychotic illnesses, particularly schizophrenia. www.nature.com/npp/index.html
This week: Science predictions for 2016, the effect of extreme weather on crops, and a new phase of hydrogen for the new year.
This week: Our final show of 2015 – we’re wrapping up the highlights of the year, catching up on the climate meeting in Paris, psyching out the characters in Star Wars, busting some scientific myths, and playing an evolution-themed board game.
This month's GenePod discusses a new study which suggests the incidence of Sickle Cell disease in newborns in Africa and the Middle East may be substantially underestimated. Since we know that early intervention saves lives and reduces morbidity, accurate figures regarding the burden of disease are critical to setting public health priorities. www.nature.com/gim/index.html
This week: The dwarf planet Ceres gets a close-up, using fetal tissue in science, and the wasting condition that worsens outcomes for cancer patients.
This week: The origins of mysterious radio bursts, fixing the PhD system, and tracking down the universe’s missing matter.
This week: What soils do for us, higher resolution ultrasound, Mars getting a ring, GM salmon, and mosquitoes with ‘gene drives’ that prevent malarial transmission.
This week: A nursery for big baby planets, meddling with taste perception, China’s mega water transfer plan, and the 100th anniversary of general relativity.
This week: Storms on Twitter over sexism in science, gene editing, porous liquids, and the long relationship between humans and bees.
This month's GenePod discusses the use of next generation sequencing in newborn screening. The findings of the researchers and their interpretation leave much room for additional research and conversation. www.nature.com/gim/index.html
This week: Spontaneously jumping droplets, growing an economy without trashing the environment, and dealing with an onslaught of data as all our gadgets become internet-enabled.
This week: How cancers spread, the hallmarks of bipolar disorder in the brain, and making carbon dioxide useful.
This month GenePod explores clinical approaches to dealing with the difficult but inevitable problem of how to handle secondary (incidental) findings in genomic analysis. www.nature.com/gim/index.html
This week: A dying solar system just like ours, the effect of temperature on the economy, and electricity-eating bacteria.
this week: C. elegans, the neuroscientists’ favourite worm, has had all its brain cells mapped. Then researchers found 2 more. D’oh! What do they do and how were they missed? Plus: early human migration; simulating a tiny piece of brain on a huge computer; and using vultures as mobile weather stations.
This week: an impenetrable mathematical proof, toggling REM sleep on and off, and the latest results from the Rosetta mission.
This week: the future of digital currency, a new lead for antibiotics, and 25 years of cataloguing the human genome.
Caffeine makes the adult world go round – but could it also be used as a therapy for premature babies? Several studies have suggested that in premature babies with breathing difficulties, caffeine could help stimulate them to breathe on their own and even have a positive effect on their brain development. But by contrast, a new study in Pediatric Research finds that a high dose of caffeine can have harmful effects. www.nature.com/pr/index.html
This week: looking back at malaria interventions, using private data for research, and how to twist a travelling neutron.
This week: Air pollution deaths, sperm whale languages, climate scientists, hiding nanoparticles, using theatre to communicate the food crisis, detecting gravity waves and anti-venom stocks dwindle in Africa.
This week: Embracing neurodiversity, explaining dark matter, giant frozen viruses, plankton poop ice clouds, safeguarding against quantum hackers and Wikipedia courts scientists.
www.nature.com/nature/index.html
It will come as no news to the audience of Genetics in Medicine that keeping up with our field and securing adequate reimbursement is getting harder and harder. At least part of this is a result of our success and reflects the growing relevance of genetics to patient care. In this month's GenePod, the podcast of Genetics in Medicine, this topic is explored with reference to a recent article published in GIM that surveyed practitioners around the world about how they handle these issues. www.nature.com/gim/index.html
This week: Celebrating the 400th Nature Podcast, Earth's two water worlds, weather forecasting, controlling toad populations, how plastic pollution affects seabirds and quantum ‘spookiness’ passes new test.
www.nature.com/nature/index.html
This week: The modern scientific revolution, squashing osmium, the search for dark matter, how hummingbirds drink, plasma particle accelerator, a Greenhouse gas loophole and the growing field of urban ecology.
www.nature.com/nature/index.html
This week: Chinese emissions, the climate footprint of beef, dreaming eye movement, lessons from hurricane Katrina, sideways gene transfer, hydrogen sulphide superconductors and the Winter Olympic ski site outcry.
www.nature.com/nature/index.html
This week: Chemical capsules as glove box alternatives, venomous head-butting frogs, the potential for another Nepal earthquake, corrections to 400-year-old sunspot records and anti-GM activists want access to scientist’s inboxes.
www.nature.com/nature/index.html
This week: Scientists after Hiroshima, new species of carnivorous plant, gut microbes boost red-meat cancer risk, lessons from Ebola, ancient macro-organism reproduction, cancer research gets physical and graphenes new cousin stanene.
www.nature.com/nature/index.html
Listen to GenePod, the Genetics in Medicine podcast, for an exploration of privacy and the sale of information by DTC genetic testing companies. www.nature.com/gim/index.html
This week: Folding and cutting graphene, how snakes kill, medical marijuana, growing miniature organs, how mitochondria power muscle cells, treating Alzheimer’s and genes from Neanderthals.
www.nature.com/nature/index.html
Our bodies are home to more bacterial cells than human cells. These bugs are collectively known as our microbiota. But when we're born, we have very few. Max Vento studies how infants amass their community of bugs and what effect being born preterm has. And it's the subject of a review, in which he and his colleagues also outline how the microbiota of preterm babies can be impaired, and how to coax it into health. www.nature.com/pr/index.html
This week: Could eyedrops treat cataracts, engineering rice to produce less methane, hand evolution, structural importance of RNA, teenager free of HIV symptoms and a boost to SETI funding. www.nature.com/nature/index.html
Adoptees and others often have little or no access to family medical history, which puts them at a clear disadvantage with regard to aspects of their medical care. Could genomic analysis help to close this health disparity? Listen to GenePod, the Genetics in Medicine Podcast for an exploration of how genomic testing might be used in this context. http://www.nature.com/gim/index.html
This week: Geologists on earthquake alerts, why seahorse tails are square, a 1500-year-old volcanic climate mystery, stopping HIV, New Horizons nears Pluto and prison for falsifying HIV vaccine data. www.nature.com/nature/index.html
This week: A complex single cell that can see, lizards that swap sex with climate change, can air-pollution cause flooding? Tatooine-like planets possible, teaching robots to be ethical, engineered super pigs, and big steps in super-conducting.
This week: Antartica’s surprising biodiversity, how weather circulation patterns are affecting global temperature events, left-handed kangaroos, rewinding colon cancer, pancreatic cancer biomarkers, and the genomes of two ancient humans are discussed.
www.nature.com/nature/index.html
This week: what scientists can learn from measuring the mass of exoplanets, we ask if plants can be intelligent, dinosaur specimen contains soft tissue and maybe even blood cells, positive memories help fight depression in mice, and Philae is awake and back in business. www.nature.com/nature/index.html
This week: genomes from the Bronze Age, chimps get a taste for cooked food, the US military’s biology arm, tackling homophobia with science, and the genetic mutation that protects against a deadly disease. www.nature.com/nature/index.html
This week: the latest in CRISPR gene editing, the bizarre behaviour of Pluto’s moons, Italian scientists being investigated by the police, and the mystery of Greenland’s disappearing lakes. www.nature.com/nature/index.html
At the moment of birth, babies go through the most disruptive physiological transition they will ever experience: they rid their lungs of fluid and start to breathe. Then the umbilical cord is clamped, shutting off air and blood supply from the mother and cementing their independence. New insights into this process, detailed in a review article by Stuart Hooper and colleagues, could help ease the transition for babies who have problems beginning to breathe on their own. www.nature.com/pr/index.html
This week: redefining the Kelvin scale, laser weapons become a reality, the ethics of killer robots, and scientists find bubbles of air that are one million years old – the oldest air ever studied. www.nature.com/nature/index.html
This week: making opiates from yeast, why sex is worth doing, how zebrafish make their own sunscreen, and the oldest stone tools ever discovered. www.nature.com/nature/index.html
This week: the latest result from the Large Hadron Collider, brainy birds pass a spot-the-difference test that monkeys fail, a look at India’s scientific landscape, and what the UK election might mean for science. www.nature.com/nature/index.html
This week: computers that mimic the human brain, the origins of complex cells, how to clone a mammoth – and should older researchers retire to make room for young blood? www.nature.com/nature/index.html
This week: a tiny dinosaur with bat-like wings, the low-down on the best new science books this spring, we discuss the gene editing of a human embryo, and the controversy surrounding the RIKEN lab. www.nature.com/nature/index.html
This week: bees addicted to pesticides, a new treatment for Ebola, why octopuses have no rhythm, bacterial bonanza found in Amazon tribe - and why is Oklahoma experiencing hundreds of artificial earthquakes? www.nature.com/nature/index.html
This week: how ‘love hormone’ oxytocin affects the brain, a look at what causes our knuckles to crack, one family’s very personal connection to the Hubble Space Telescope - and the mystery of the bright spots on Ceres deepens. www.nature.com/nature/index.html
This week: the origins of the Moon, blind rats get a magnetic sixth sense, the latest wonder material to hit the big-time, and the Brontosaurus makes a re-entry into the dinosaur family tree. www.nature.com/nature/index.html
This week: boots that improve the efficiency of walking, protecting endangered species, science in the run-up to the UK general election, and the 'Angelina Jolie effect' on genetic testing. www.nature.com/nature/index.html
This week: the role of black holes in growing galaxies, how mudskipper fish slurp up prey with a watery ‘tongue’, Dragon’s Den for scientists, graphene sandwich makes a new form of ice - and an inside look at the first pig biobank. www.nature.com/nature/index.html
Sometimes, adults or children experience the symptoms of a brain tumor – headaches and vision problems – without an actual tumor. The formal name for this mysterious condition is Pseudotumor Cerebri Syndrome. Shana McCormack thinks that insights from kidney biology might help us to understand it. She's our podcast guest this month. www.nature.com/pr/index.html
This week: the myopia epidemic sweeping across East Asia, early scientific photography at the London Science Museum, plants get picky about their pollen partners, the British genome unveiled and American universities scout out new weed dealers. www.nature.com/nature/index.html
Is music simply a pleasant accompaniment to thought, or a driving force behind it? This show examines music’s influence on the development of modern science and the foundations of acoustics. Lute music courtesy of Naxos Licensing. www.nature.com/nature/index.html
This week: how English became the dominant language of science, the earliest human fossil to date, menopausal killer whales lead the hunt, defining the Anthropocene, and how Apple’s ResearchKit allows researchers to recruit for clinical studies. www.nature.com/nature/index.html
This week: Ebola's impact on mothers-to-be, the human family tree gets even more tangled, quantifying the risk of volcanoes, and robo-rescuers battle it out in the DARPA Robotics Challenge. www.nature.com/nature/index.html
This week: food additives with health risks, astronomers prepare to take a close look at Pluto and Ceres, how DNA damage continues for several hours after sunbathing, and measuring pain in the brain – is it ready for the courtroom? www.nature.com/nature/index.html
This week: why the concept of sex might not be binary, how increasing winds could cause coastal dead-zones, the future US megadroughts set to be the worst in 1,000 years, and the grave threat facing museum collections. www.nature.com/nature/index.html
The sound of an aeroplane can mean many things: mild annoyance; the excitement of travel; a rough night’s sleep. But increasingly, researchers around the world think it may also have some more sinister effects. In this episode of Audiofile, find out just what plane noise could mean for the health of those who have to hear it. www.nature.com/nature/index.html
This week: sequencing the genomes of Darwin’s finches, financial trading nears light speed, an ancient book of optics, and mitochondrial transplants get the UK yes vote. www.nature.com/nature/index.html
This week: a new way to protect plants in drought prone areas, studying the driving force behind plate tectonics, an octopus-inspired robot that can zoom through water and Obama’s budget wishlist seeks a big boost for science. www.nature.com/nature/index.html
This week: an Israeli skull piece could be from a human hybrid, a rethink on what makes sodium explode in water, protecting Libyan archaeology and the hunt for Philae hangs in the balance. www.nature.com/nature/index.html
This week: the restorative power of young blood, improving the safety of genetically modified organisms, the rise of deforestation for gold mining in South America, what meteorites found on earth could teach us about the early solar system, and the reappearance of the Beagle 2. www.nature.com/nature/index.html
Most drug doses for newborns are based on studies done in adults or older children. In this podcast, Brian Smith outlines the problems with this method, and suggests ways to test drugs in this vulnerable population. www.nature.com/pr/index.html
Bat ecologists have made it their life’s work to find out, philosophers argue we may never understand, and one blind woman knows better than anyone. In the first episode of Audiofile, Nature’s new sound science series, find out how much we can really know about what it’s like to be a bat, and what it tell us about the limits of human perception. www.nature.com/nature/index.html
This week: what hibernation could tell us about brain degeneration, managing climate-induced resettlement, a closer look at expansion microscopy, monkeys and mirrors - and introducing our newest journal, Nature Plants. www.nature.com/nature/index.html
This week: a look at what the New Year may hold for science, the reopening of the Large Hadron Collider, a new antibiotic that’s hard to resist, how less activity has given us lighter bones – and why aren’t there any green mammals? www.nature.com/nature/index.html
This week: reef fish adopt chemical camouflage, the stories that mattered in science this year, we attempt a game of audio charades, and physicists argue that cosmology must insist upon experimental proof of its theories. www.nature.com/nature/index.html
This week: spider-inspired motion detectors, electric eels zap the neurons of their victims, a new type of pluripotent cell is revealed, and we take stock of how much life exists on earth today – and how quickly it could vanish in the future. www.nature.com/nature/index.html
This week: the development of cultures in wild birds, a new paper confirms earthquakes in the north of England were caused by fracking, how primates got their first taste of alcohol 10 million years ago, and old shells reveal early artwork by Homo erectus. www.nature.com/nature/index.html
This week – a newly designed coating that can help cool buildings without the need for electricity, the science of sex laid bare, brain-linked devices attract serious attention from the FDA – and weaknesses in the modern publishing system are exposed as authors are caught reviewing their own papers. www.nature.com/nature/index.html
Early childhood is a crucial period. The environment that a child grows up in - their family and neighborhood - influences their health and development for the rest of their life. In this podcast we hear about an ambitious attempt to synthesize 200 studies linking social inequity to childhood health outcomes in Europe. www.nature.com/pr/index.html
This week: an experiment reveals how professional identity can increase dishonesty in the financial industry, beams of twisted light carry data over Vienna's skyline, how the norovirus could actually benefit the body - and we capture the bumpy moment The European Space Agency’s Philae probe successfully landed on a comet surface. www.nature.com/nature/index.html
This week: the global diet and its effect on human and environmental health, a look at the burden and stigma of depression, the threat of invasive plant species, how the gut microbiome could affect the brain - and physicist Kip Thorne discusses the science he embedded in space blockbuster Interstellar. www.nature.com/nature/index.html
This week: an ancient skull discovered in Madagascar provides insight into the mysterious Gondwanathere mammals, wild chimps plan ahead to improve their chances of a tasty breakfast, a new technique that could open up low-cost technology for particle colliders, and a look at the unfortunate events in space travel this week. www.nature.com/nature/index.html
This week: we explore the 100 most cited papers of all time, mysterious radio pulses that look like they came from deep space may actually be from earth, questions are raised about NASA’s plans to retrieve part of an asteroid – and how Mary Somerville became one of the most popular science writers of her day. www.nature.com/nature/index.html
This week: palaeontologists have completed the picture of a rather unique looking dinosaur, hundreds of exocomets are found circling around another star, an insight into what gladiators ate before going into battle – and drugs given to cattle poison a vulture in Spain. www.nature.com/nature/index.html
This week: Natural gas from fracking may not ease carbon dioxide levels, large cities relying on surface water will get thirstier as urban populations boom, watching Alzheimer's unfold in a mini 3D brain - and doubt is cast on the use of mirrors in behavioural experiments as some fish fail to see their reflections as rivals. www.nature.com/nature/index.html
This week: a cave in Indonesia that's home to some of the oldest paintings in the world, increased plant cover in the Arctic may speed up regional warming, David X. Cohen on how ‘The Simpsons’ is secretly scattered with hidden maths jokes - and Nobel Prize week ushers in a new cast of Laureates. www.nature.com/nature/index.html
This week: A genetic analysis of the bugs that live on our skin, visible rifts in the moon may actually be remnants of a magma plumbing system, the rush to save a rare South African plant from extinction and how a biopiracy ban could lead to unintended consequences for some researchers. http://www.nature.com/nature/index.html
Occasionally, a baby under a year dies unexpectedly in sleep, for no apparent reason. This is known as sudden infant death syndrome, or SIDS. Studies have thrown up genes and molecules that are sometimes associated with SIDS deaths, but we're a long way from fully understanding the causes. Now, Nathan Salomonis has created a systems-level model of SIDS, to help researchers see how pathways in the brain, heart and immune system are involved - and to identify new targets for research. www.nature.com/pr/index.html
This Week: Artificial sweeteners may induce glucose intolerance, vaginal microbe produces an antibiotic, lack of diversity in clinical trials causes drug development bias, next-generation stem cells used to treat an eye condition, and a taster of our new podcast Backchat. http://www.nature.com/nature/index.html
This week: The gibbon genome reveals why the animal has remarkable tree climbing abilities, scientists work on ways to mend defects in the retina, China now generates the most energy from renewable sources and scientists are divided over the impending Scottish referendum on independence. http://www.nature.com/nature/index.html
The latest episode: Europe’s oldest art linked to Neanderthals, a new gene editing technique sheds light on genetic diseases, ice sheets move rocks in California's Death Valley and did Aristotle invent science? http://www.nature.com/nature/index.html
This week: scientists raise fish on land, turning yeast into morphine, how microbes make cheese, the ongoing Ebola outbreak and how whale watching is harming marine mammals. http://www.nature.com/nature/index.html
This week: genomes reveal seals transported tuberculosis to the New World, astronomers photograph comets spitting out chemicals, scientists date the disappearance of Neanderthals from Europe and federal regulations ground drones at private universities. http://www.nature.com/nature/index.html
This week: Scientists investigate a giant earthquake in Iquique, why fish on anti-anxiety drugs are surprisingly healthy, monitoring the environmental effects of deep sea mining and what keeps asteroids made of rubble intact? http://www.nature.com/nature/index.html
This week: Scientists work out a way to grow only specific types of carbon nanotube, rodents are turned transparent to get whole-body images, artist Joan Fontcuberta chronicles strange species and forgotten archives, and the scientists on a quest to make a machine that could churn out any organic molecule on demand. http://www.nature.com/nature/index.html
A quick round-up from the Naturejobs Career Expo in Boston, with clips from speakers, exhibitors, delegates and organisers.
Andy Kirk talks to Julie Gould about the importance of data visualisation for scientists.
Julie Gould speaks to Dr David Kirby and Dr Donna Nelson about their adventures with the bright lights of Hollywwod
Naturejobs asks Susanna-Assunta Sansone how scientists can manage the vast amounts of data that are produced in scientific experiments.
Sofie Carsten Nielsen, the Danish Minister for Higher Education and Science is putting a lot of energy into battling the barriers that women in science face in Denmark.
Edwina Dunn, founder of dunnhumby and the Tesco Club Card, and currently starting up Starcount, discusses how data science is a passion for her, not just at work, but outside too.
Una Ryan, chair of the Bay Area Bioeconomy Initiative and angel investor, talks to Naturejobs about her mentor and how they helped her break through barriers and glass ceilings that many women face.
Roma Agrawal, physicist turned structural engineer at WSP, was the woman who designed the top of The Shard.
Frances Ashcroft, professor of physiology at the University of Oxford, inspires us with her infectious energy and curiosity for science in this first episode of the Women in Science Spotlight series.
Kit Malthouse, the Deputy Mayor of London for Business and Enterprise, talks to Naturejobs about his plans to turn London into a "fizzing, buzzing ecosystem" for biotech and life sciences.
Euan Adie from Altmetric and Alex Hodgson from ReadCube talk to Julie Gould about the future of digital scientific publishing.
An interview with Sterghios Moschos from the University of Westminster about his move from industry back to academia.
An interview with Nessa Carey, senior director at Pfizer, about her journey from academia to industry.
Researchers normally use a radioactive label to track red blood cell survival. But this method is deemed unsafe for infants and children. So an alternative method - one using biotin to label the cells, instead of radioactive Chromium 51 - is good news for pediatrics. Dr. Jack Widness and colleagues from the University of Iowa have tested the biotin labeling method on a group of critically ill premature babies. In this podcast Dr. Widness presents their results and explains how the method could be used to improve transfusion practices for infants with anemia. http://www.nature.com/pr/index.html
In this podcast we're focusing on children born with extremely low birth weights. Researchers are interested in how quickly these children grow and catch up with their normal birth weight peers. A new study, of children born in the 1990s, suggests that improvements in neonatal nutrition have led to improvements in catch-up growth. The study also looked at gender differences and obesity. Study leader Maureen Hack talks us through the findings. http://www.nature.com/pr/index.html
The Bayley Scales are a suite of IQ-like tests for babies and young children. They're used to assess infant development. But the latest edition of the tests, the Bayley-III, seems to produce higher test scores than its predecessor, the Bayley-II. This is causing problems for researchers like Neil Marlow who use the tests to check the effectiveness of different interventions. Neil decided to compare the two tests. He talks about the results of his study, and its implications, on this month's podcast. http://www.nature.com/pr/index.html
Malnutrition and cystic fibrosis in India: Case studies in the US show that children with cystic fibrosis often suffer from vitamin deficiencies. In India, this problem is exacerbated by malnutrition, as Dr Angurana discovered when he studied patients in the northern city of Candigarh. http://www.nature.com/pr/index.html
This week: Climate change is threatening Antarctic fur seals, cheese rinds prove useful as models for microbial societies, frozen carbon dioxide, not water, could be carving out gullies on Mars - and start-ups get into nuclear fusion. http://www.nature.com/nature/index.html
This week: Scientists are squeezing diamond to test how matter inside giant planets might behave, a protein leaked by tumours could explain cachexia - and the first boron buckyball could prove useful for storing hydrogen. http://www.nature.com/nature/index.html
This week: A new Archaeopteryx skeleton with feathered legs suggests feathers didn’t originally evolve for flight, predicting which teens are most likely to abuse alcohol - and Neanderthal poo reveals they ate vegetables as well as meat. http://www.nature.com/nature/index.html
This week: A method for identifying hidden nuclear warheads, a new and less toxic way of making 'thin film' solar cells, how butterflies use a magnetic compass to migrate - and mixing research and romance in the lab. http://www.nature.com/nature/index.html
This week: stem cell treatments with no evidence that they work - a group of scientists fight to outlaw the method, Also featured - spider chastity belts, physicists' new way of measuring Newton’s elusive gravitational constant and making 3D digital models of soldiers from the Terracotta Army. http://www.nature.com/nature/index.html
This week: a new book looks at the recent history of science / art collaboration, the 'magic' of quantum computers - and a pesticide made using spider venom that is safe for honeybees. http://www.nature.com/nature/index.html
This week: Scientists have sifted through thousands of antibiotic resistance genes in soil bacteria, creating a baby with three parents - and matured stem cells make new tissue - not tumours - when transplanted into monkeys. http://www.nature.com/nature/index.html
This week: Scientists discover a set of neurons that control parental behaviour in mice, removing groundwater in California to irrigate crops is causing mountains to rise - and long line fishing could be more sustainable than bottom trawling. http://www.nature.com/nature/index.html
This week: An online game helps scientists understand the retina, scientists produce a computer simulation of the Universe and how cow manure could be spreading genes for antibiotic resistance. http://www.nature.com/nature/index.html
This week: Scientists regenerate injured monkey hearts using embryonic stem cells, how mice becoming stressed by the smell of men could be affecting the results of research and analysis reveals the extent of wrongful convictions on death-row in the US. http://www.nature.com/nature/index.html
This week: Why the human Y chromosome is a fraction of its former size, a female a Brazilian cave-dwelling insect that has a penis, Beatrix Potter's other life as a mycologist and how researchers are directing the evolution of corals to prepare them to fight climate change. http://www.nature.com/nature/index.html
This week: A study suggests we turn our attention to the countryside - as well as pristine landscapes - when it comes to conservation, drilling holes in earthquake-prone areas could stop shakes - and how the atmosphere on ancient Mars was surprisingly thin. http://www.nature.com/nature/index.html
This week: scientists are flooding the Colorado River delta as part of an experiment, the gruesome way a parasite attacks cells in the gut, DNA robots carry out computing tasks inside a cockroach, certain bacteria turn plants into 'zombies' - and researchers attempt to save the rare Hainan gibbon. http://www.nature.com/nature/index.html
This week: How the announcement fifty years ago of a new human species, Homo habilis, sparked a debate that still rages today, cancer immunotherapy is drumming up excitement, news of a flexible device that can release drugs into the wearer’s skin - and scientists have mapped developing brains. http://www.nature.com/nature/index.html
This week: the new dwarf planet in our solar system, gastric sleeve surgery, a tree that has the largest genome sequence to date - and which of NASA's current missions it will extend? http://www.nature.com/nature/index.html
This week: Astronomers detect signs of gravitational waves from the Big Bang, adding carbon nanotubes to leaves can boost their photosynthetic power, and a new brain implant could help scientists understand Parkinson’s disease. http://www.nature.com/nature/index.html
This week: ecologists rethink how top predators influence ecosystems, a rare mineral confirms a huge mass of water could be hidden in the Earth's mantle, a possible new prostate cancer treatment - and did a 13th century cosmologist pen an early version of the Big Bang theory? http://www.nature.com/nature/index.html
This week: Male fruit flies sing a courtship song to charm females, the oldest known piece of cheese is discovered, a new detector converts faint radio signals into easy-to-measure lasers and what are the future alternatives to the lithium-ion battery? http://www.nature.com/nature/index.html
This week: scientists find UV radiation causes melanoma to metastasise, crystallography’s journey to the deep Earth, Canadian bears use bridges to breed and Einstein's lost theory is uncovered. http://www.nature.com/nature/index.html
This week: researchers use environmental DNA to track an invasion of Asian Carp into Lake Michigan, Nicaragua's mega canal, whale-spotting from space, scientists troubled by proposed Swiss immigration changes - and honeybee diseases are found to occur in bumblebees. http://www.nature.com/nature/index.html
This week: nuclear fusion takes a step closer to being a viable fuel source, how the diversity of colour in birds / mammals evolved, problems for budding space colonists - and ethical questions over Native American remains. http://www.nature.com/nature/index.html
This month, male eyespan associated with meiotic drive in wild stalk-eyed flies and a review of non-conflict theories for the evolution of genomic imprinting. http://www.nature.com/hdy/index.html
This week: South Korean cloning expert Woo Suk Hwang returns to the limelight, plant pests and diseases drive forest diversity - and imperfect diamonds could prove useful in quantum computing. http://www.nature.com/nature/index.html
This week: how birds flying in a V formation take advantage of air flow, starfish use eyes on the ends of their arms to find their way home, and is the FDA's crackdown on personal DNA testing warranted? http://www.nature.com/nature/index.html
This week: how flexible flow batteries could be more useful than conventional ones, US university campuses are building threat assessment teams, a high-fibre diet curbs lung inflammation in mice - and fossilised skin reveals the colours of extinct marine reptiles that lived up to 200 million years ago. http://www.nature.com/nature/index.html
In the early 1990s, a team of astrophysicists saw signs of life on a planet in our galaxy. Astronomy experts tell the story, and discuss how we can tell if there is life beyond the Earth. http://www.nature.com/nature/index.html
The first issue of Nature looked very different from today's magazine. It opened with poetry and was written for a general audience. We hear how Nature began, and how it became the iconic science journal it is today. http://www.nature.com/nature/index.html
In the early twentieth century physicists had become deeply entangled in the implications of the quantum theory. Was the world at its smallest scales continuous, or built of discrete units? It all began with Max Planck. His Nobel Prize was the subject of a Nature news article in 1920. http://www.nature.com/nature/index.html
In this week's bumper Christmas special, comedian Andy Zaltzman joins the Nature Podcast team to talk pickles, Neanderthals, and the biggest science stories of 2013. http://www.nature.com/nature/index.html
For related articles visit: http://www.nature.com/nature/podcast/?WT.mc_id=SNC_NPG_1401
This week, some species grow old gracefully, what lizard breath reveals about dinosaurs, and ways to avoid shortages of isotopes crucial in hospitals. http://www.nature.com/nature/index.html
This week, DNA from an ancient human relative, the origins of the moon, and the dangers of following the herd when it comes to peer review. http://www.nature.com/nature/index.html
This week, how the mind talks to the body, a new way to explore the structure of complex molecules, and the Collider exhibition at London's Science Museum. Plus, the best science from outside Nature. http://www.nature.com/nature/index.html
A 24,000 year-old genome suggests Native Americans have both East Asian and European ancestry, how to move the world’s thinnest material, the ancestry of folk tales and why schools are getting teenage students to take part in novel scientific research. http://www.nature.com/nature/index.html
This month, the evolution of novelty in conserved genes, and predicting heterosis from genomic data. http://www.nature.com/hdy/index.html
Neuroscientists are trying to find markers of traumatic brain injury, Viking warriors may have sacrificed slaves to bury with their masters, and why larger groups are better than smaller groups at maintaining skills and innovation over generations. http://www.nature.com/nature/index.html
The powerful asteroid that shook a Russian town in February, the earliest indicator of autism in babies, and a neuroscientist reflects on his life with Parkinson's disease. Plus, the best science from outside Nature. http://www.nature.com/nature/index.html
This week, treating chronic HIV, time travel in fiction and doing physics under the Nazis. http://www.nature.com/nature/index.html
This week, decoding brain activity to predict what you’re seeing, remembering or even dreaming, and the truth about the infamous tyrant Tyrannosaurus rex. Plus, the best science from outside Nature. http://www.nature.com/nature/index.html
This week, the nervous system of an ancient arthropod, comparing cancer genomes, and can publishing in a top tier journal change your scientific life? http://www.nature.com/nature/index.html
The Heredity podcast features interviews with the people behind the science and a digest of breaking news from Geoff Marsh. http://www.nature.com/hdy/index.html
This week, creating clouds to ease climate change, a new drug for multiple sclerosis, and was the Amazon once an orchard? http://www.nature.com/nature/index.html
This week, how some of Mars' craters came from supervolcanoes, why scientific myths spread and stick around, and a particle accelerator on a chip. http://www.nature.com/nature/index.html
This week, we ask the big questions about sea level rise, learn lessons for climate change from the exploration of America's Great Plains, and explore the rough waters of Drake Passage at the foot of South America. http://www.nature.com/nature/index.html
This week, making stem cells in living mice, retracing the footsteps of a controversial frog-hunter, and what does Stephen Hawking’s new memoir reveal about the man? http://www.nature.com/nature/index.html
This week, creating silver nano-particles, encrypting data with quantum mechanics and do brain training games really work? http://www.nature.com/nature/index.html
In this episode, Dr. Robert Dellavalle speaks with Dr. Elaine Fuchs, from The Rockefeller University, about the future of regenerative medicine in skin biology. http://www.nature.com/jid/index.html
This week, tearing apart space-time, growing a tiny brain in the lab, metaphor in science, and a climate conundrum. http://www.nature.com/nature/index.html
This week, singing stars reveal their vital statistics, electricity helps plants heal, and the possibility of making babies from skin cells. http://www.nature.com/nature/index.html
This week, famous cells and genetic privacy, what the 'love hormone' oxytocin does in the brain, smart uses for metamaterials, and the 'personalities' of NASA's rovers. Plus, the best science from outside Nature. http://www.nature.com/nature/index.html
This week, a tiny thermometer measures temperature inside cells, how humans evolved the ability to digest milk, and what to expect from a career move to the Middle East. http://www.nature.com/nature/index.html
This week, the superbugs resistant to last-resort antibiotics, how flatworms regrow their heads, and why the oil palm genome could be good news for sustainable crop breeding. http://www.nature.com/nature/index.html
This week, switching off the extra chromosome in Down's syndrome, using endless waves to explore quantum systems, and how massive open online courses are transforming learning. http://www.nature.com/nature/index.html
This week, the deadly effect of species population drops, how plants have become better at using water as carbon dioxide rises, and putting personality into synthesized voices. http://www.nature.com/nature/index.html
This week, the oldest genome ever sequenced, how elephants evolved from tree-eaters to grass-eaters, and why humans are so good at playing baseball. http://www.nature.com/nature/index.html
This week, why naked mole rats are cancer-proof, why Martian meteorites don't look like the Martian surface, and are quantum computers a reality? http://www.nature.com/nature/index.html
This week, what lives under the sea floor, the mega-prizes turning scientists into millionaires, and how fast do cheetahs actually run? http://www.nature.com/nature/index.html