Rare Care Podcast: Recent Episodes
Rare Disease Advisor
Rare Disease Advisor's Rare Care Podcast features exclusive interviews with experts and stakeholders from the rare disease community.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Teresa Barnes, founder of PF Warriors—a global support network that provides education, inspiration and hope to individuals and families affected by pulmonary fibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Martina Cornel, MD, PhD, about the importance of adopting standardized newborn screening for rare diseases throughout Europe.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Diane Zipursky Quale, who founded the Bladder Cancer Advocacy Network 20 years ago with her late husband after he developed bladder cancer.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Laurah Turner, PhD, associate dean for artificial intelligence and educational informatics at the University of Cincinnati College of Medicine.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews John MacMahon, a New Hampshire-based medical devices company that specializes in phototherapy to treat fatigue in people with multiple sclerosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Eric Small, MD, who recently stepped down as president of the American Society of Clinical Oncology (ASCO).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jessie Dubief, social research director of Eurordis, about the organization's new survey on the importance of addressing mental health among both patients and caregivers affected by rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Naomi Aziz, patient advocacy and engagement lead at the Endometrial Cancer Research Foundation. June is Uterine Cancer Awareness Month, and endometrial cancer now ranks as the nation's most common gynecologic cancer.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michelle Ng Gong, MD, president of the American Thoracic Society (ATS). Dr. Gong formally replaced Raed Dweik, MD, at the ATS 2026 conference in Orlando, Florida.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Andrew Wilson, MD, scientific director of the Alpha-1 Foundation, about the latest therapies to treat alpha-1 antitrypsin deficiency, an incurable genetic disease that causes both lung and liver damage.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Vallerie McLoughlin, MD, director of the Pulmonary Hypertension Program at the University of Michigan-Ann Arbor, about results of a phase 3 trial for ralinepag to treat pulmonary arterial hypertension.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Craig Martin, founder and CEO of the Orphan Therapeutics Accelerator (OTXL) — a nonprofit biotech dedicated to advancing shelved clinical-stage therapies for ultrarare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Henriette Farkas, MD, PhD, director of the Hungarian Angioedema Reference Center in Budapest, and a world expert on the treatment of HAE.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Antón Blatnik, PhD, who recently won a $150,000 grant from Cure SMA to study the molecular mechanisms that drive neuromuscular disease and gene expression.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kathryn Swoboda, MD, faculty emerita at Massachusetts General Hospital and a neurologist and rare disease specialist who's been working on SMA for nearly 30 years.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Dutch neurologist Ewout Groen, PhD, a member of the Scientific Advisory Board of SMA Europe.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jaime Moore, MD, about weight loss drugs—specifically the role of GLP-1 receptor agonists in treating children with neuromuscular diseases and obesity.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pediatric psychologist Natalie Truba, PhD, on the psychological aspects of gene therapy in neuromuscular disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Donna Shipp, a Boston-area nurse who was misdiagnosed with cancer, underwent surgery and later realized she had IgG4-RD. She now advocates on behalf of others with this rare disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Abby Bronson, vice president of patient advocacy at Edgewise Therapeutics, about a new effort to raise awareness of Becker muscular dystrophy as a disease distinct from Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Allison Moore, founder and CEO of the Hereditary Neuropathy Foundation. Moore was the winner of the Muscular Dystrophy Association's 2026 Donavon Decker Legacy Award for Community Impact in Research.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews John Crowley, president and CEO of the Biotechnology Innovation Organization (BIO), founder of Amicus Therapeutics, and father of 2 children with Pompe disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Hyun Kim, MD, professor of medicine and director of the University of Minnesota's Interstitial Lung Disease Program, about idiopathic pulmonary fibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Andrea Wilson Woods, founder of Blue Faery: The Adrienne Wilson Liver Cancer Association—a nonprofit that advocates for patients with hepatocellular carcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michael Shilsky, MD, of the Yale School of Medicine, on potential therapies for Wilson disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Yen Chen, PhD, of the University of Michigan, on the subject of cognitive dysfunction or "brain fog" among people with scleroderma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Danish hepatologist Aleksander Krag, MD, PhD, on the diagnosis and treatment of alpha-1 antitrypsin deficiency (AATD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Vesna Aleksovska, chair of the nonprofit organization Life With Challenges. Aleksovska, who has Gaucher disease, advocates for all rare disease patients in North Macedonia, a former Yugoslav republic.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Wes Michael, founder of Rare Patient Voice. Since 2013, RPV has offered patients and caregivers opportunities to share their input with companies developing products to improve lives.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Katharine Provencher, director of patient advocacy at IgG4Ward!, a nonprofit that advocates for patients and caregivers affected by IgG4-RD.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cecilia Dueñas, PsyD, on the PBC Research Foundation, and the discrimination and stigma she faced for years before getting diagnosed with the disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Golie-Lorenzo Green, whose lifelong battle with sickle cell disease led him to advocate for others with the debilitating illness.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jana Monaco, a NORD patient ambassador from Virginia who's made nationwide newborn screening her life's mission.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Alabama computer scientist Matthew Might, PhD, on how his son's death from a rare genetic disease led him to become an expert in AI and precision medicine.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sarah Chang, PhD, about the patient and caregiver burden associated with the ultra-rare mitochondrial disease TK2d.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews rheumatologist Jinoos Yazdany, MD, on the potentially catastrophic medical, ethical and legal consequences of relying too much on AI.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Barry Byrne, MD, PhD, an expert on Pompe disease and director of the University of Florida's Powell Gene Therapy Center.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Eric Matteson, MD, of the Mayo Clinic and winner of the American College of Rheumatology's 2025 Presidential Gold Medal.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Karen Smoot, a resident of New Mexico who has both idiopathic pulmonary fibrosis and pulmonary arterial hypertension. Karen is a patient ambassador for the Pulmonary Fibrosis Foundation.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Gabriela Romanow, founder of Boston, Massachusetts-based Rare Vision. The project showcases works by artists with rare neuroimmune diseases such as NMOSD, MOGAD and transverse myelitis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lisa Shea, director of global patient advocacy and engagement for immunology at Johnson & Johnson, about the experiences of patients affected by HDFN and FNAIT.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Nicole Lamanna, MD, a leukemia physician specializing in CLL treatment at Columbia University Medical Center in New York City.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews May Lee Tjoa, PhD, senior global medical affairs leader for Johnson & Johnson's nipocalimab and maternal-fetal immunology division.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews John Mascarenhas, MD, a professor with the Icahn School of Medicine at Mount Sinai in New York, on advancing care in myelofibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Catherine Miller, PharmD, global medical affairs lead for hereditary angioedema (HAE) at Intellia Therapeutics, on an experimental gene editing therapy known as lonvo-Z.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Shoshana Revel-Vilk, MD, director of the Gaucher unit at Shaare Zedek Medical Center in Jerusalem, Israel.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Nikki McIntoch, mother of a boy with spinal muscular atrophy (SMA) and founder of the advocacy group Rare Mamas.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Brown, MD, PhD, director of the CLL Center at Dana-Farber Cancer Institute in Boston, Massachusetts, and winner of the 2025 Michael J. Keating Outstanding Achievement Award.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews neurologist Michio Hirano, MD, of Columbia University in New York about an investigative therapy that shows promise in treating thymidine kinase 2 deficiency (TK2d), an ultrarare disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews cardiologist Pradeep P.A. Mammen, MD, of the University of Kansas School of Medicine, on the growing awareness of girls affected by Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved about the latest Israeli research on myasthenia gravis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ileen Colin del Río, the mother of a boy with Duchenne muscular dystrophy and president of the Cancún-based nonprofit group Duchenne Mexico.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Yuva Gambhir, 22, who doesn't let Duchenne muscular dystrophy get in the way of his aspiring career as a DJ.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Richard Nowak, MD, director of the Myasthenia Gravis Clinic at Yale School of Medicine in New Haven, Connecticut.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Robert Steen of Oslo, Norway. Steen and his wife, Trude, are the parents of Mats Steen, who died of Duchenne muscular dystrophy (DMD) in 2014. An award-winning documentary, The Remarkable Life of Ibelin, is based on their son's story.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Carolina Barnett-Tapia, MD PhD, an associate professor of neurology at the University of Toronto, about how myasthenia gravis is treated throughout the Western Hemisphere.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews British scientist Angela Vincent, winner of the first-ever Lifetime Achievement Award from the Myasthenia Gravis Foundation of America.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Daniel Grant, MD, vice president and global program head of neuroscience and gene therapy at Swiss pharma giant Novartis, on emerging therapies for SMA.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ashley Stanley-Copeland, MD, of Dell Children's Medical Center in Austin, Texas, on therapeutic options available to patients with Duchenne muscular dystrophy (DMD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ashley Stanley-Copeland, MD, of Dell Children's Medical Center in Austin, Texas, on therapeutic options available to patients with Duchenne muscular dystrophy (DMD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pediatric neurologist Sithara Ramdas, MD, of Oxford Children's Hospital in England, on neonatal and juvenile myasthenia gravis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lyza Weisman, who has spinal muscular atrophy type 2, about how she copes with progressive loss of muscle function.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Marcus Delatte, PhD, on how the versatile cannabis plant offers innovative treatments for children with Dravet syndrome and Lennox-Gestaut syndrome.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lucy Culp, vice-president of state government affairs at the Leukemia & Lymphoma Society, on top issues of importance to patients with rare blood cancers.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews amyloidosis patient and former basketball player Dan Lier, a partner with the nonprofit group Somebody To Talk To, about his new "Rare Disease Playbook."
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lauren Holder, an activist and patient with Huntington disease, as well as producer and host of the podcast series Help 4 HD Live.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Antonella Favit-Van Pelt, MD, PhD, chief medical officer at Helius Medical, on the potential of neuromodulation to treat people with multiple sclerosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Joyce Kullman, executive director of the Vasculitis Foundation, duirng Vasculitis Awareness Month.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Chris Lewis, whose father, Jerry Lewis, was not only among the most famous comedians of the 20th century but also a tireless advocate for people with muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lisa Butler, CEO of the GBS-CIDP Foundation, on what her organization is doing for patients with chronic inflammatory demyelinating polyneuropathy (CIDP).
Larry Luxner, senior correspondent for Rare Disease Advisor, talks to Donavon Decker, who has limb-girdle muscular dystrophy. Decker is the winner of the 2025 MDA Legacy Award for Community Impact in Research.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews 17-year-old Lily Sander with Charcot-Marie-Tooth disease. The Muscular Dystrophy Association has named Sander its 2025 MDA Patient Ambassador.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Katherine Mathews, MD, winner of the Muscular Dystrophy Association's 2025 Legacy Award for Achievement in Clinical Research for her contributions to understanding and treating genetic disorders affecting the neuromuscular system.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Arash Mostaghimi, MD, an associate professor of dermatology and a practicing physician at Boston's Brigham and Women's Hospital. Dr. Mostaghimi is a recognized expert on generalized pustular psoriasis (GPP).
Rare Disease Advisor correspondent Tori Rodriguez interviews clinical hematologist and professor Luke Chen, MD, about IgG4-related disease and how it mimics various malignancies.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews John Anderson, MD, chief research officer at AllerVie Clinical Research, on the complexities of diagnosing and treating hereditary angioedema.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Art Still, former defensive end for the Kansas City Chiefs and an NFL Hall of Famer who's now a patient advocate dedicated to raising awareness about amyloidosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews oncologist-hematologist Heather Landau, MD, of Sloan Kettering Memorial Cancer Center in New York City, for National Amyloidosis Awareness Month.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Timothy Craig, DO, a tenured professor of medicine, pediatrics and biomedical sciences at Pennsylvania State University in Hershey. Dr. Craig has been researching hereditary angioedema for 30 years.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sangeetha Venugopal, MD, assistant professor of clinical medicine at the University of Miami's Sylvester Comprehensive Cancer Center. Dr. Venugopal speaks on how smoking worsens outcomes for patients with a group of blood cancers known as myelodysplastic syndromes (MDS).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Andrea Renzi, a New Hampshire mother and patient advocate whose family has been affected by hemolytic disease of the fetus and newborn (HDFN).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews James Bussel, MD, emeritus professor of pediatrics, medicine, and obstetrics and gynecology at New York's Weill Cornell Medicine. The topic of their discussion is nipocalimab as a potential treatment for fetal and neonatal alloimmune thrombocytopenia (FNAIT).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Rigoberto Garcia, executive director of the Hemophilia Foundation of Southern California, about the difficulty minorities—especially undocumented Hispanics—have in accessing treatment for their bleeding disorders.
Larry Luxner, senior correspondent for Rare DIsease Advisor, interviews Kristin Hatcher, director of pediatric and rare diseases at the Global Liver Institute. Hatcher has both alpha-1 antitrypsin deficiency (AATD) and Von Willebrand disease, a rare clotting disorder.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Terry Jo Bichell, PhD, founder and director of CombinedBrain, which advocates for patients with 110 neurogenetic diseases. Dr. Bichell is part of a panel that's studying how the US Food and Drug Administration can do a better job of speeding up clinical trials and becoming more transparent about its decisions.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Erin Collins, founder of the Chasing Rainbows Foundation in North Carolina's Outer Banks. The charity raises awareness of HDFN and other rare pregnancy-related diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Dean Wingerchuk, MD, speaks on the potential for treating neuromyelitis optica spectrum disorder (NMOSD) with stem-cell therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jimmy Pollard, who for the past 38 years has advocated on behalf of people around the world affected by Huntington disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews clinical psychologist Rosalind Kalb, lead senior programs consultant for Can-Do MS, a Colorado-based nonprofit health and wellness organization.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Tanita Allen, a Black woman with Huntington disease who has made it her mission to increase awareness about the disorder and its devastating impact on patients regardless of their racial or ethnic background.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jean Elwing, MD, a professor of medicine and director of the Pulmonary Hypertension Program at Ohio's University of Cincinnati.
Larry Luxner, senior correspondent for Rare DIsease Advisor, interviews Payel Gupta, MD, on social media platforms such as TikTok, Facebook and YouTube, and their importance in reaching today's public—and fighting online misinformation.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sandy Siegel, founder and president of the Siegel Rare Neuroimmune Association. Siegel started the charity 30 years ago with his wife, Pauline, after she was diagnosed with transverse myelitis. After Pauline's death in 2017, the organization expanded to include five other rare neuroimmune diseases including neuromyelitis optica spectrum disorder (NMOSD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Anastasia Vishnevetsky, MD, MPH, of Massachusetts General Hospital and Harvard Medical School. Dr. Vishnevetsky is heading a groundbreaking clinical trial of the cannabinoid spray nabiximols in treating the symptoms of NMOSD.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ignacio Muñoz-Sanjuan, PhD, the president and founder of Factor-H—a Los Angeles-based nonprofit organization that works to alleviate extreme poverty among people with Huntington disease in Venezuela, Colombia, and Peru.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Amy Case, MD, chief medical officer of the Pulmonary Fibrosis Foundation, about the importance of passing the bipartisan Supplemental Oxygen Access Reform (SOAR) Act, which is currently stalled in Congress.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Steve Van Wormer, cofounder and director of the Phaware Global Association. Van Wormer became a patient advocate after his late son, Lucas, was diagnosed with pulmonary hypertension at age 4.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Victor Test, MD, an expert in pulmonary arterial hypertension (PAH). Dr. Test is a professor of medicine and chair of the pulmonary vascular disease program at Texas Tech School of Medicine in Lubbock.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pulmonologist Drew Harris, MD, an associate professor of medicine at the University of Virginia in Charlottesville. Dr. Harris is also medical director of the Black Lung Program at Stone Mountain Health Services, in the heart of southwestern Virginia's coal-mining industry.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mahesh Desai, PhD, of the Luxembourg Institute of Health’s Department of Infection and Immunity. Dr. Desai discusses how healthy gut bacteria may reduce the side effects of chemotherapy in cancer patients.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Karin Hoelzer, DVM, PhD, senior director of policy and regulatory affairs at the National Organization for Rare Disorders (NORD). Dr. Hoelzer discusses the importance of convincing the US Congress to renew the Rare Pediatric Disease Priority Review Voucher Program, which is set to expire on September 30, 2024.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Susan Ward, PhD, founder and executive director of the Collaborative Trajectory Analysis Project (cTAP), which seeks to broaden patient eligibility for clinical trials in Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Taylor Kane, founder and executive director of 'Remember the Girls.' The charity advocates for female carriers of X-linked rare disorders including Duchenne muscular dystrophy and hemophilia.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews neurologist Jeffrey A. Cohen, MD, of Ohio's Cleveland Clinic on the latest developments in cellular therapies to treat multiple sclerosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jacquelyn Bainbridge, DPharm, a neurology professor at the University of Colorado in Aurora, on the benefits of medical cannabis in treating multiple sclerosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Flavia Nelson, MD, director of the Multiple Sclerosis Center of Excellence at the University of Miami in Florida, on the difficulties of diagnosing neuromyelitis optica spectrum disorder.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kevin M. Flanigan, MD, director of the Center for Gene Therapy at the Abigail Wexner Research Instute of Nationwide Children’s Hospital in Columbus, Ohio. The subject of our talk is exon skipping therapies for Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Durresamin Khan, the Pakistani mother of a boy with Duchenne muscular dystrophy, about the difficulties of obtaining treatment for DMD patients who are ineligible for gene therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jenny Huang, whose son, Benjamin Lou, is an award-winning math major at MIT who also has spinal muscular atrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jenny Huang, whose son, Benjamin Lou, is an award-winning math major at MIT who also has spinal muscular atrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Omer Abdul Hamid, MD, a neurologist at Nemours Children's Hospital in Orlando, Florida, on gene therapy's potential to treat Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Pamela Gavin, the newly appointed CEO of the National Organization for Rare Disorders (NORD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Patricia Weltin,founder and CEO of Beyond the Diagnosis—a nonprofit that uses art to raise public awareness of children with ultra-rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sarah Glass, PhD, chief operating officer of the n-Lorem Foundation—and the mother of a boy with an ultra-rare disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mary Morlino, who has sarcoidosis and is the patient navigator for the Undiagnosed Diseases Network Foundation.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Israeli expert Avner Reshef, MD, director of the Allergy, Immunology, and Angioedema Center at Barzilai University Medical Center in Ashkelon, only a few miles from the border with war-torn Gaza.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Israeli expert Avner Reshef, MD, director of the Allergy, Immunology, and Angioedema Center at Barzilai University Medical Center in Ashkelon, only a few miles from the border with war-torn Gaza.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pediatric neurologist Edward Smith, MD, about the recent approval of vamorolone, a synthetic corticosteroid, in boys with Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sharon Hesterlee, PhD, chief research officer at the Muscular Dystrophy Association, about the recent proliferation of gene therapies and other treatments for neuromuscular diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ira Walker, the Muscular Dystrophy Association's 2024 National Ambassador, at the MDA's 2024 Clinical & Scientific Conference in Orlando, Florida. Walker, 39, has spinal muscular atrophy (SMA) type 2.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Seema Lalani, MD, of Baylor College of Medicine in Houston, Texas. Dr. Lalani directs Project GIVE (Genetic Inclusion by Virtual Evaluation), a pediatric screening program in the impoverished 4-county Rio Grande Valley region of southern Texas.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Matt Trudeau, head of ITF Therapeutics—a division of Italy's Italfarmaco—on treating Duchenne muscular dystrophy with givinostat, a histone deacetylase inhibitor.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Thomas Holm Pedersen, PhD, cofounder and chief executive of NMD Pharma, a Danish company that's pursuing the use of chloride channel 1 (ClC-1) as a novel target for restoring muscle function in both myasthenia gravis and spinal muscular atrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Courtney Silverthorn, PhD, of the Foundation for the National Institutes of Health (FNIH) about the FNIH’s Bespoke Gene Therapy Consortium.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cristol Barrett O'Loughlin, founder and CEO of Raregivers—a nonprofit organization that offers mental health and wellness services to those caring for people with rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Omar Kamlin, MD, senior medical director at French drugmaker Orphalan, whose therapy, Cuvrior, treats Wilson disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Melinda Bachini, chief patient officer at the Cholangiocarcinoma Foundation, about a new study detailing the burden on caregivers of people with cholangiocarcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kyle Bryant, director of the Ambassador Program at the Friedreich's Ataxia Research Alliance (FARA), and founder and director of rideATAXIA.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul Bolno, MD, the CEO of Wave Life Sciences, whose investigational therapy WVE-003 is a potential treatment for Huntington disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Chris Peetz, CEO of Mirum Pharmaceuticals, about the growing number of treatments for pruritis (severe itch), one of the worst symptoms associated with Alagille syndrome.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Belgian molecular biologist Thierry VandenDriessche, PhD, president of the local organizing committee of the European Society of Gene & Cell Therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Brian O'Mahony, president of the Irish Haemophilia Society and one of the few hemophilia B patients in Europe to receive gene therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Selene Capodarca. This Italian expert in pharmaceutical chemistry and technology, is the global study director for Enroll-HD, with 30,000 patients the world's largest observational study in Huntington disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Professor Claire Booth of University College London and cofounder of the AGORA Initiative, which aims to tackle the growing economic hurdles that prevent lifesaving gene therapies from reaching children who need them the most.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul Bolno, MD, the CEO of Wave Life Sciences, whose investigational therapy WVE-006 is a potential treatment for the liver disease associated with alpha-1 antitrypsin disorder (AATD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Brazilian bleeding disorders expert Margareth Ozelo, who has been researching gene therapies for hemophilia for the past 25 years.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Rob Haselberg, a Dutch patient advocate for Huntington disease who is heatlhy now, but will develop HD later in life after having tested positive for the incurable, progressive illness.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Herwig Lange, MD, a neurologist who has been researching Huntington disease since 1969. Dr. Lange, a proponent of non-drug therapy to improve the lives of HD patients, is also president of the German Huntington Association.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cathleen Lutz, PhD, vice president of the Jackson Laboratory's Rare Disease Transactional Center in Bar Harbor, Maine. Dr. Lutz is leading efforts to implement the latest genomic editing techniques to address the actual genetic defect in Friedreich ataxia, with the goal of translating it to the clinic.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Heather Stefanski, MD, PhD, vice president of medical services at the National Marrow Donor Program / Be The Match. Previously, she was an associate professor of pediatrics at the University of Minnesota. Dr. Stefanski's research focuses on children with life-threatening blood and immune system disorders.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Astri Arnesen, president and CEO of the European Huntington Association (EHA), about current research trends and the potential for gene therapy to treat Huntington disease ahead of EHA's 2023 conference in Blankenberge, Belgium.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Derek de Winter, coordinating investigator of the DIONYSUS study, a Dutch-based international retrospective registry on hemolytic disease of the fetus and newborn (HDFN).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Juan Valle, MB ChB, about his appointment as the Cholangiocarcinoma Foundation's first-ever chief medical officer and what it means for patients with the disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paige Rivard, past president of the Prader-Willi Syndrome Association USA, on the extreme challenges faced by parents of children with this disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lorenza Rimassa, MD, associate professor of medical oncology at Italy’s Humanitas University and Humanitas Research Hospital, about current research on treatment options for cholangiocarcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida who specializes in treating children with Prader-Willi syndrome and other causes of excessive weight gain in childhood.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Knox, MD, at the 25th World Congress on Gastrointestinal Cancer in Barcelona, Spain. Dr. Knox, considered Canada's top expert in cholangiocarcinoma, ia a professor of medicine at the University of Toronto, and a staff medical oncologist at the Princess Margaret Cancer Center.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Daniel Fischer, president and CEO of Tevard Biosciences, which is "Dravet" spelled backwards. Fischer and his business partner, Warren Lammert—both fathers of girls with Dravet syndrome—are developing technologies to modulate RNA function to treat rare and severe diseases that are usually not amenable to traditional gene therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Damon Race, CEO of GeneVentive Therapeutics. The North Carolina-based startup hopes to develop a universal gene therapy that will benefit hemophilia A and B patients with inhibitors.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Bonni Goldstein, MD, a Los Angeles-based pediatrician and medical cannabis specialist who has treated more than 18,000 patients, 80% of whom are children with various forms of epilepsy, including Dravet and Lennox-Gastaut syndromes.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jason Sicklick, MD, FACS, an expert on gastrointestinal stromal tumor (GIST), ahead of July 13, GIST Awareness Day. Dr. Sicklick's laboratory focuses on the molecular mechanisms of GIST development and drug resistance in advanced GIST.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kattayoun Kordy, MD, senior director of rare disease clinical development/immunology at Janssen. She discusses her company's clinical trials for nipocalimab, an intravenous infusion that aims to treat hemolytic disease of the fetus and newborn (HDFN).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Denise Scots-Knight, PhD. Her UK-based company, Mereo BioPharma, is developing therapies for alpha-1 antitrypsin deficiency.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews psychologist Al Freedman, PhD, whose late son Jack had spinal muscular atrophy. Dr. Freedman specializes in counseling families of those affected by rare disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kim Smith-Whitley, MD, a pediatric hematologist and top Pfizer execuive specializing in the treatment of sickle cell disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jason Tardio, chief operating officer at Ovid Therapeutics,
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer MacDonald—who has alpha-1 antitrypsin deficiency— about the difficulties of being a rare disease patient in Mexico.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mindy Henderson, an SMA patient who is editor-in-chief of Quest, the quarterly magazine of the Muscular Dystrophy Association.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Christopher Curran, who along with his wife, Jessica, founded Kindness Over Muscular Dystrophy to advocate for patients like their 12-year-old son, Conner, who has Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Leah Zelaya, a 2023 national ambassador of the Muscular Dystrophy Association. The 15-year-old aspiring actress from Brooklyn, New York, has an ultra-rare form of spinal muscular atrophy (SMA) known as scapulopereneal SMA.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Luisa Leal, founder and CEO of The Akari Foundation, a Texas-based nonprofit that advocates on behalf of Spanish-speaking families affected by Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews pediatric neurologist Julie Parsons, MD, of Children's Hospital Colorado in Denver. An expert on both muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD), Dr. Parsons discusses how the nation's healthcare system must prepare for an avalanche of Duchenne patients if and when Sarepta's gene therapy wins final approval in May 2023.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Christopher Rosa, PhD, president and CEO of the Viscardi Group. Dr. Rosa, who has limb-girdle muscular dystrophy, is a longtime advocate for the disabled community. His chief mission now is pushing legislation that will require U.S. airlines to let disabled passengers remain in their wheelchairs during flight.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Matt Granato, president and CEO of the Pulmonary Hypertension Association, on World PH Day 2023—which takes place May 5—and the urgency of creating awareness about PAH, a frequently misdiagnosed and potentially fatal disease.
Larry Luxner, senior corespondent for Rare Disease Advisor, interviews Ron Bartek, founding president of the Freidriech's Ataxia Research Alliance (FARA), about the hope generated by the recent FDA approval of Reata's omaveloxolone (Skyclarys)—the first-ever therapy to treat this rare neuromuscular disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Miranda Bradnick, the mother of 3 children with Alagille syndrome. Among her biggest concerns: how COVID-19 has changed the lives of her family and others affected by rare disease, 3 years after the World Health Organization declared a pandemic.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jeff Szer, BMedSc, a hematology professor at Australia's Royal Melbourne Hospital and secretary of the UK-based International PNH Interest Group, which is organizing its first-ever scientific symposium on paroxysmal nocturnal hemogloblnuria (PNH).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cheryl Schwartz, Takeda's senior vice-president of US rare disease business, on the recent approval of lanadelumab-flyo (Takhzyro®) for hereditary angioedema.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews John Berk, MD, director of the Boston University School of Medicine's Localized Amyloid Clinic, on the latest therapeutic options for hereditary ATTR amyloidosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Çem Akin, MD, a specialist in allergy and immunology at the University of Michigan, about various treatment options for systemic mastocytosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Dr. Abby Sandler of the National Cancer Institute.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Yale University hematologist George Goshua, MD, who has completed a cost analysis of gene therapy versus standard of care in patients with sickle cell disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Arushi Khurana, MBBS, a hematologist and lead author of a study showing that minorities are less likely to receive front-line therapy for diffuse large B-cell lymphoma than white patients.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Catherine Broome, MD, on the relative benefits to quality of life by treating immune thrombocytopenia patients with efgartigimod.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul W. Noble, MD, director of the Women’s Guild Lung Insitute at Cedars-Sinai Medical Center in Los Angeles, about his work exploring zinc as a potential therapy for idiopathic pulmonary fibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Federico Stella, MD, on the controversial practice of severely restricting the diets of patients who have just undergone stem cell transplants.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Abigail Jenkins, president and CEO of Gamida Cell Ltd., on the company's development of omidubicel as an alternative to umbilical cord blood in stem cell transplants for myelofibrosis and other patients.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Peter Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), on the 40th anniversary of the landmark Orphan Drug Act.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sara Rothschild, the new executive director of the Life Raft Group, the nation's chief nonprofit advocating on behalf of patients with gastrointestinal stromal tumor (GIST).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Philip J. Brooks, PhD, acting director of the Division of Rare Diseases Research Innovation at NCATS. Dr. Brooks describes the mission of the Bespoke Gene Therapy Consortium, which recently marked its first anniversary.
Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Scott Santarella, the new president and CEO of the Miami-based Alpha-1 Foundation—the nation's largest organization working on behalf of patients with alpha-1 antitrypsin deficiency (AATD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lourdes Rocha-Nussbaum, director of the Cholangiocarcinoma Foundation's Veterans Project. This program explores the relatively high incidence of bile duct cancer among Vietnam War veterans and care options for such patients.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Darlene Shelton, founder and president of Danny's Dose Alliance, a Missouri-based nonprofit that seeks to ensure proper emergency medical care for all patients with hemophilia and other bleeding disorders.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Aiwu Ruth He, MD, PhD, an associate professor of medicine at Medstar Georgetown University Hospital in Washington, D.C., and one of the principal investigators of the TOPAZ-1 clinical trial.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Brenda Wong, MD, an expert on Duchenne muscular dystrophy and director of the MDA Care Center at the University of Massachusetts Chan Medical School in Worcester.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Randi Clites, rare disease policy director at the Ohio-based Little Hercules Foundation. This nonprofit's mission is to advocate for patients with Duchenne muscular dystrophy (DMD) and fight to get DMD included on every state's newborn screening panel.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sumaira Ahmed, founder and executive director of The Sumaira Foundation, a Boston-based nonprofit organization that advocates on behalf of patients with neuromyelitis optica spectrum disorder (NMOSD) and related diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Martin Mense, PhD, senior vice president of drug discovery at the Cystic Fibrosis Foundation, and head of the CFF's Therapeutics Lab in Lexington, Massachusetts.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michael Levy, MD, associate professor of neurology at Harvard Medical School in Boston, Massachusetts, and a leading expert on neuromyelitis optica spectrum disorder (NMOSD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Wallace Valdes, PT, founder of the Duchenne Therapy Network and physical therapist with CureDuchenne, on the importance of physical therapy and exercise in boys and young men with Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Janet Lynch Lambert, CEO of the Alliance for Regenerative Medicine (ARM). This Washington, DC-based nonprofit aims to bring safe and effective cell and gene therapies to patients around the world.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Annie Kennedy, head of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare Diseases. This Washington, DC-based nonprofit focuses on eliminating the diagnostic odyssey for rare disease, promoting regulations that speed up therapeutic development, and improving access to approved rare-disease therapies.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michael Kelly, PhD, chief scientific officer at CureDuchenne, on the latest developments in exon skipping, gene therapy and other treatments for Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Eileen Sullivan Baker, an Ohio attorney whose son, John, has long chain fatty acid oxidation disorder. She has become an outspoken advocate for LCFAOD, in the absence of any formal patient advocacy organization for those with the disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul Heaton, a Montana cattle rancher whose son has Duchenne, on his Calves2Cure DMD fundraising initiative.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Emil Kakkis, MD, PhD, founder and CEO of San Francisco-based Ultragenyx, on the increasingly complex challenges facing developers of drugs to treat rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Pradeep Mammen, MD, professor of internal medicine and director of the Neuromuscular Cardiomyopathy Clinic at UT Southwestern in Dallas, Texas. Dr. Mammen, a speaker at the CureDuchenne 2022 Futures conference, has done extensive research on the issue of female carriers of muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews CureDuchenne's Diana Castro, MD, on efforts to reach Spanish-speaking families affected by Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews wheelchair-bound Justin Skeesuck, who didn't let his progressive genetic disease stop him from crossing Spain's 500-mile Camino de Santiago. The adventure, with his best friend Patrick Gray, led to the book and movie "I'll Push You." Justin and Patrick were keynote speakers at the recent CureDuchenne 2022 Futures conference in Orlando, Florida.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Shahid Khan, MD, of Imperial College London, on why an update to ICD-10 coding is urgently needed for correct diagnosis of cholangocarcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Marissa Penrod, founder of the Indiana-based nonprofit group Team Joseph, which provides financial assistance to families like her own that have been affected by Duchenne muscular dystrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mary Beth Scholand, MD, director of the Interstitial Lung Disease Program at the University of Utah in Salt Lake City. Dr. Scholand discusses a newly announced initiative, "Bridging Specialties: Timely Diagnosis for ILD Patients," between the American College of Chest Physicians (CHEST) and the Three Lakes Foundation.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mary Beth Scholand, MD, director of the Interstitial Lung Disease Program at the University of Utah in Salt Lake City. Dr. Scholand discusses a newly announced initiative, "Bridging Specialties: Timely Diagnosis for ILD Patients," between the American College of Chest Physicians (CHEST) and the Three Lakes Foundation.
Larry Luxner, senior correspondent for Rare Disease Advisor, interiews Josh Disbrow, CEO of Aytu BioPharma, a Colorado company developing potentially lifesaving products in the areas of pediatric onset and rare disease, particularly severe upper respiratory conditions.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Ilan Ganot, founder and CEO of Solid Biosciences in Cambridge, Massachusetts. The Israeli-born Ganot started his company in order to find a cure for his son, Eytani, who has DMD.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jerry Mendell, MD, professor of neurology and pediatrics at Nationwide Children’s Hospital in Columbus, Ohio. Dr. Mendell is among the most prominent experts in Duchenne muscular dystrophy, and a pioneer in gene therapy. He met his first Duchenne patient in 1969.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Henry Kaminski, MD, on the difficulties of treating myasthenia gravis. Dr. Kaminski is chair of the neurology department at George Washington University's School of Medicine and Health Sciences in Washington, DC.
Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Laura McLinn, the Indiana mom of 12-year-old Jordan McLinn, who has Duchenne muscular dystrophy. Jordan, who became the unofficial poster boy of the "Right to Try" movement, has just completed 5 years in a clinical trial for a novel exon 53 skipping therapy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Anthony Feinstein, PhD, a professor of psychiatry at the University of Toronto and a world-renowned neuropsychiatrist. We talk to the South African-born Dr. Feinstein about his new book, "Mind, Mood and Memory: The Neurobehavioral Consequences of Multiple Sclerosis."
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jay Griffin, the father of a North Carolina boy with Duchenne muscular dystrophy, about his family's struggles and the difficulty blacks and other minorities often face when it comes to treatment for rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Meridith O’Connor, a patient advocate and founder of a chronic illness consultancy, about her efforts to raise awareness of myasthenia gravis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Courtney Young, PhD, founder and CEO of MyoGene Bio. Young, whose company is based in San Diego, California, was inspired by her cousin Christopher's diagnosis of Duchenne muscular dystrophy to find a cure for the disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Henry Lin, MD, a pediatric hepatologist with Oregon Science & Health University in Portland. Dr. Lin speaks about the difficulty of diagnosing lysosomal acid lipase deficiency (LAL-D) in children.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Albert Faro, MD, vice president for clinical affairs at the Cystic Fibrosis Foundation (CFF). Dr. Faro speaks about COVID-19's impact on the CF community, and on how CFTR modulators and better care have dramatically extended the life of patients with cystic fibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Christine Há — a blind chef who not only won Season 3 of the reality TV show "MasterChef" in 2012 but went on to write a bestselling cookbook and later opened two restaurants in Houston, Texas. Há, who has neuromyelitis optica spectrum disorder, is the public face of the new campaign "NMOSD Won't Stop Me."
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Reham Abdel-Wahab, MD, PhD, chief scientific officer of the Cholangiocarcinoma Foundation. Dr. Abdel-Wahab discusses recently approved therapies for this rare, aggressive bile duct cancer as well as new advances that may offer hope to patients with the disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lisa Phelps Sarfaty ahead of February 28, Rare Disease Day. Sarfaty is vice president of community engagement at the National Organization for Rare Disorders (NORD), a coalition of 330 patient advocacy groups and the leading voice for an estimated 25 million Americans with rare and debilitating illnesses.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Evanthia Bernitsas, MD, director of the Multiple Sclerosis Treatment and Immunology Clinical Research Center at Wayne State University in Detroit, Michigan. Dr. Bernitsas is an expert on NMOSD and its effect on patients of African origin.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Nicola Longo, MD, PhD, is a professor of pediatrics and chief of the University of Utah's Division of Medical Genetics in Salt Lake City. He’s also an expert in LCFAOD and the role of carnitine—a natural chemical found mostly in the muscle—in burning fat.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews MeiLan K. Han, MD, chief of the University of Michigan’s Division of Pulmonary & Critical Care in Ann Arbor. Dr. Han, a spokeswoman for the American Lung Association, leads groundbreaking research on oxygen delivery in chronic lung disease and has also written a book on the subject.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sigbjørn Berentsen, MD, PhD, a hematologist and senior researcher at Norway’s Haugesund Hospital. Dr. Berentsen is an expert in the role of carnitine in regulating LCFAOD.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews researcher Adrian Krainer, PhD, from the Cold Spring Harbor Laboratory in New York. Dr. Krainer perfected the RNA splicing technique that led to the development of nusinersen, the first treatment for spinal muscular atrophy.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Michael Yeaman, PhD, chief medical advisor to the Guthy-Jackson Charitable Fund, based in Los Angeles. Dr. Yeaman speaks about neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease that was once thought to be a form of multiple sclerosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Donald S. Wood, PhD, president and CEO of the Muscular Dystrophy Association (MDA). Their conversation focuses on the latest therapies for Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy, and on the upcoming 2022 MDA Clinical & Scientific Conference.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cori Forster, vice-president of the Cold Agglutinin Disease Foundation (CADF) — a nonprofit organization formed to advocate for patients and families affected by CAD. We also talk about research on new therapies for this extremely rare anemic disorder.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Amir London, CEO of Israel's Kamada — a major biopharmaceutical company that already has an FDA-approved therapy for alpha-1 antitrypsin deficiency, and is now pursuing an inhaled AAT drug for the same disease.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Dr. Haggi Mazeh, an endocrine surgeon at Hebrew University's Hadassah Medical Center in Jerusalem. Dr. Mazeh, one of Israel's top experts on thyroid cancer, talks extensively about the challenges of treating medullary thyroid carcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Harsha K. Rajasimha, PhD, in Herndon, Virginia. Dr. Rajasimha cofounded the Organization for Rare Diseases India and is now CEO of Jeeva Informatics, which aims to improve the diversity, equity, and inclusion (DE&I) of patients in clinical trials worldwide.
Larry Luxner, senior correspondent for Rare Disease Advisor, talks to pulmonologist Naftali Kaminski, MD, professor of medicine and pharmacology and chief of Pulmonary, Critical Care and Sleep Medicine at Yale University School of Medicine in New Haven, Connecticut. Dr. Kaminski discusses the recently announced Three Lakes Consortium for Pulmonary Fibrosis (TLC4PF), a consortium involving the Three Lakes Foundation, Yale and the University of Pittsburgh School of Medicine.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Durhane Wong-Rieger, PhD, president and CEO of the Canadian Organization for Rare Disorders (CORD) and chair of Rare Diseases International (RDI). Dr. Wong-Rieger talks about the challenges of diagnosing and treating diseases in Canada, as well as advancing access to therapies around the globe.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews David Goldenberg, MD, FACS, a surgical oncologist, and professor and chair of the department of otolaryngology-head and neck surgery at Penn State College of Medicine in Hershey, Pennsylvania. Dr. Goldenberg has just published the latest edition of his book, Endocrine Surgery of the Head and Neck, a significant portion of which focuses on the various forms of thyroid cancer, including medullary thyroid carcinoma.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Doug Kerr, MD, PhD, chief medical officer at Generation Bio in Cambridge, Massachusetts. The company is aggressively pursuing redosable gene therapies for hemophilia and other rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jerry Vockley, MD, PhD, chief of medical genetics at Pennsylvania's UPMC Children's Hospital of Pittsburgh. Dr. Vockley is also the founder of INFORM, the International Network for Fatty Acid Oxidation Research and Management, which will hold its next annual conference virtually Oct. 27-28.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Hagit Baris-Feldman, MD, director of the Genetics Institute at Israel's Tel Aviv Sourasky Medical Center. Dr. Baris-Feldman, who also chairs the Israel Medical Genetics Association and is an associate professor at Tel Aviv University's Sackler Faculty of Medicine, talks about why Israel has emerged as a global leader in the diagnosis and treatment of rare diseases.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Noah Greenspan, DPT, founder of New York City's Pulmonary Wellness & Rehabilitation Center. Dr. Greenspan, who also runs the nonprofit Pulmonary Wellness Foundation, talks about diagnosing and treating pulmonary arterial hypertension.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Barry Byrne, MD, director of the University of Florida's Powell Gene Therapy Center in Gainesville. Dr. Byrne has spent years researching potential gene therapies for Pompe disease, comments on the FDA's recent approval of avalglucosidase alfa-ngpt (Nexviazyme) to treat Pompe.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Eric Olson, PhD, chief scientific advisor at Vertex Pharmaceuticals and founding chair of the molecular biology department at the University of Texas-Southwestern Medical Center. Dr. Olson is an expert on Duchenne muscular dystrophy and CRISPR gene editing technology.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Edward Neilan, MD, chief medical officer at the National Organization for Rare Disorders (NORD). This is a new position at NORD, which serves as the umbrella organization for some 330 disease-specific patient advocacy groups. NORD also sponsors the annual Rare Diseases and Orphan Products Breakthrough Summit, which this year takes place virtually Oct. 18-19.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul T. Martin, PhD, principal investigator at the Center for Gene Therapy at Nationwide Children's Hospital in Columbus, Ohio. Dr. Martin has been at the forefront of research into potential gene therapies for lysosomal acid lipase deficiency, or LAL-D.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Noah Greenspan, DPT, founder of New York City's Pulmonary Wellness & Rehabilitation Center. Dr. Greenspan, who also runs the nonprofit Pulmonary Wellness Foundation, talks about diagnosing and treating idiopathic pulmonary fibrosis.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Peter Knox, senior research director at the Life Raft Group. Based in Wayne, New Jersey, this organization was incorporated in 2002 and advocates for people with all forms of gastrointestinal stromal tumor, or GIST.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Mark Brantly, MD, scientific director of the Alpha-1 Foundation, ahead of the organization's August 28, 2021, "Virtual Education Day." Dr. Brantly is the vice-chair of research in the Department of Medicine at the University of Florida in Gainesville, and has spent most of his career researching a cure for alpha-1 antitrypsin deficiency (AATD).
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Camille Bedrosian, MD, chief medical officer and executive vice president of Ultragenyx Pharmaceutical in Novato, California. Earlier this year, Ulragenyx won approval from the US Food and Drug Administration (FDA) for triheptanoin (Dojolvi®), a liquid medication that supplies medium-chain, odd-carbon fatty acids as an energy source and metabolite replacement for people with long-chain fatty acid oxidation disorder (LCFAOD).