Rare and Orphan Diseases: Recent Episodes
ReachMD
Host: Gates B. Colbert, MD
Guest: Kelly Helm
Over 35 million people in the United States suffer from some form of chronic kidney disease, but many of them lack the support and education to navigate their condition and receive the best possible care. After her daughter was diagnosed with a rare kidney disease, Kelly Helm discovered the many obstacles associated with management and treatment. Hear from Kelly as she sits down with Dr. Gates Colbert to share what she’s learned as a parent, caregiver, and advocate. Kelly is the Executive Director of Patient Engagement at NephCure, a nonprofit organization dedicated to supporting and empowering patients with rare kidney diseases.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Mary Frances McMullin, MD
The MOMENTUM study evaluated the impact of the treatment option momelotinib on patient-reported outcomes, including symptom burden and overall quality of life. Joining Dr. Charles Turck to share the key findings and potential implications for myelofibrosis care is Dr. Mary Francis McMullin, who co-authored and presented the poster at the American Society of Hematology (ASH) Annual Meeting and Exposition.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Douglas Tremblay, MD
Based on three randomized-controlled trials, the JAK inhibitor momelotinib has demonstrated clinical activity against anemia, constitutional symptoms, and splenomegaly in patients with myelofibrosis. But what do we know about its long-term safety? That’s what a recent study explored, and now, Dr. Douglas Trembley is here to share the findings from the largest clinical trial safety database for a JAK inhibitor in myelofibrosis. Dr. Trembley is an Assistant Professor at the Icahn School of Medicine at Mount Sinai in New York.
Guest: Kelly Gwathmey, MD
ALS can take up to a year to diagnose, but researchers are hard at work trying to find ways to minimize diagnostic delays and errors. One such solution is the Rapid Access ALS Clinic, where patients were diagnosed an average of two months sooner. Here to talk about this work is Dr. Kelly Gwathmey, Professor of Neurology at the Virginia Commonwealth University School of Medicine who presented a session on this topic at the 2024 American Association of Neuromuscular and Electrodiagnostic Medicine Annual Meeting.
Host: Gates B. Colbert, MD
Guest: Ryan Cassaday, MD
According to the available long-term data, CAR T-cell therapy boosts overall survival and durable remission rates in patients with relapsed/refractory B-cell acute lymphoblastic leukemia (B-ALL). Given this data, it’s important to know how we can best identify appropriate patients for this approach and manage adverse events so they can achieve those long-term benefits. To learn more about the available data and key considerations for using CAR T-cell therapy to treat relapsed/refractory B-ALL, Dr. Gates Colbert speaks with Dr. Ryan Cassaday, Associate Professor in the Division of Hematology-Oncology at the University of Washington School of Medicine in Seattle.
Host: Denis Hadjiliadis, MD, MHS, PhD
Guest: Gregory S. Sawicki, MD, MPH
Guest: Alexandra Wilson, MS, RDN, CDE
Guest: Susanna A. McColley, MD
Cystic Fibrosis (CF) care faces challenges from health disparities, limited access, and unintended bias, affecting patient outcomes. This CME program aims to equip healthcare professionals with the skills needed to overcome these barriers and provide equitable care for all CF patients. It covers telehealth strategies, best practices for transitioning patients from pediatric to adult care, and managing co-morbidities. The program also explores how evolving treatments impact patient outcomes.
Host: Matt Birnholz, MD
The SIMPLIFY-2 trial compared the efficacy of momelotinib to best available therapy, which was primarily continued ruxolitinib, in patients with myelofibrosis and anemia who were previously treated with a JAK inhibitor. According to the findings, momelotinib potentially offers better outcomes and a more comprehensive management strategy by addressing the underlying molecular mechanism of anemia. Learn more about the trial design and results with Dr. Matt Birnholz.
Host: Amir T. Fathi, MD
Guest: Courtney DiNardo, MD
Guest: Brian A. Jonas, MD, PhD
While the expanding arsenal of therapies available for patients with AML allows practitioners to further hone treatment and individualize care, the complexity of treatment decision-making requires careful consideration of potential risks and benefits of each treatment option. This real-world, case-based program will provide a format for community hematology-oncologists to hear current updates on the latest targeted therapies in AML and engage in pointed, practical discussions on how to best integrate these data into current and local AML treatment paradigms.
Guest: Betsy O'Donnell, MD
Plasma cell disorders range from multiple myeloma to the monoclonal gammopathy of undetermined significance (MGUS), which is a benign condition that affects anywhere between 3 and 10 percent of the population starting at age 50. However, about 1 percent of people per year who have MGUS will progress to multiple myeloma. Here to talk about common precursor diseases like MGUS and smoldering myeloma and how they can progress to multiple myeloma is Dr. Elizabeth O’Donnell, Director of Early Detection and Prevention at Dana-Farber.
Guest: John F. Brandsema, MD
Between 60 and 70 percent of patients with Duchenne muscular dystrophy (DMD) also have a diagnosable neurobehavioral phenotype like autism, ADHD, and anxiety. Here to talk about these common neurobehavioral issues in patients with DMD and how we can manage them is Dr. John Brandsema, Neuromuscular Section Head at the Children’s Hospital of Philadelphia.
Guest: John F. Brandsema, MD
As patients with Duchenne muscular dystrophy (DMD) age, their treatment regimens, considerations, and goals change. That’s why Dr. John Brandsema is here to talk about how we can best treat and support patients with DMD throughout their entire care journey. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John F. Brandsema, MD
The gene therapy delandistrogene moxeparvovec was recently approved for patients with Duchenne muscular dystrophy (DMD) who are at least 4 years old. This expanded approval is based on the efficacy and safety results from the EMBARK trial. Joining Dr. Charles Turck to break down those key findings and the implications of this advancement in DMD treatment is Dr. John Brandsema. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia, where one of the clinical trials for this gene therapy took place.
Host: Jennifer Caudle, DO
Guest: Samuel R. Wilson, MD
Sickle cell disease is among the most common inherited conditions globally, affecting more than seven million individuals worldwide.1-3 Given its prevalence, it is important to understand all of the complexities surrounding this disease. Joining Dr. Jennifer Caudle to discuss the pathophysiology, clinical presentation, burden, and unmet needs of sickle cell disease is Dr. Samuel R. Wilson, Assistant Professor of Medicine in the Division of Hematology at the University of North Carolina School of Medicine.
References:
- Sedrak A, Kondamudi NP. Sickle cell disease. StatPearls Publishing; 2023. Updated August 12, 2023. Accessed April 16, 2024. https://www.ncbi.nlm.nih.gov/books/NBK482384/.
- Thomson AM, McHugh TA, Oron AP, et al. Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol. 2023;10(8):e585-e599. doi:10.1016/S2352-3026(23)00118-7.
- CDC. Data & statistics on sickle cell disease. Centers for Disease Control and Prevention. Published May 2, 2022. Accessed April 16, 2024. https://www.cdc.gov/ncbddd/sicklecell/data.html/.
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All right reserved.
SCD-US-0095 / June 2024
Host: Matt Birnholz, MD
Guest: Saad Kenderian M.B, Ch.B
CAR T-cell therapy has been revolutionary in the treatment of blood cancers like chronic lymphocytic leukemia and multiple myeloma, and according to recent research, this therapeutic approach may also help patients with thyroid cancer. However, there are several challenges associated with applying this technology to target solid tumors in thyroid cancer, like tumor heterogeneity and resistance. Joining Dr. Matt Birnholz to talk about these challenges and how a research team is working to overcome them is Dr. Saad J. Kenderian, Assistant Professor of Oncology, Immunology, and Medicine at the Mayo Clinic in Rochester, Minnesota.
Host: Peter E. Newburger, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Peter E. Newburger, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Jacob R. Bledsoe, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Peter E. Newburger, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Teresa K. Tarrant, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Jolan Walter, MD, PHD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Host: Teresa K. Tarrant, MD
WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.
Guest: Adam Narloch
Guest: Michelle Hermiston, MD, PhD
Adam Narloch speaks with Dr Michelle Hermiston to discuss the history of hemophagocytic lymphohistiocytosis (HLH) and advances in understanding this rare disease. Dr Hermiston is a pediatric hematologist-oncologist, a bone marrow transplant specialist, and the Director of the Pediatric Immunotherapy Program at UCSF Benioff Children’s Hospital. Join us as we start our journey into the world of HLH!
© 2024 Sobi, Inc. All Rights Reserved. NP-34329 04/24
Host: David J. Kuter, MD, DPhil
Guest: Spero R. Cataland, MD
Guest: Catherine Broome, MD
Guest: Cindy Neunert, MD, MSCS
Because immune-mediated rare blood disorders are uncommon, healthcare providers often lack the knowledge and experience necessary to identify, diagnose, and treat them in accordance with best practices. As a result, there are significant gaps in care, including delays in diagnosis and suboptimal treatment. To ensure that more patients with these rare disorders are offered quality, evidence-based care, it’s essential that healthcare providers possess up-to-date information about best practices and new developments in this area of medicine. In this activity, composed of 3 podcasts, an expert moderator will interview 3 expert faculty members about evidence-based guidelines for the diagnosis and treatment of acquired thrombotic thrombocytopenic purpura, developments in the diagnosis and treatment of cold agglutinin disease, and the challenges of achieving enduring remission in patients with immune thrombocytopenia.
Host: Eliza B. Geer, MD
Guest: Kevin C.J. Yuen, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Maria Fleseriu, MD, FACE
Guest: Martin Reincke, MD
Designed with primary care physicians (PCPs) in mind, this continuing medical education activity focuses on efficient screening for Cushing’s syndrome by emphasizing clinical indicators and targeted tests. Tune in to discover practical tools that can help you reach an accurate diagnosis by distinguishing between physiologic and pathologic causes. Our experts also discuss when to refer for a specialist consultation. PCPs play a pivotal role in early detection and management of Cushing's syndrome, so be sure to add these skills to your armamentarium in the primary care setting.
Host: Maria Fleseriu, MD, FACE
Guest: Richard Auchus, MD
Take your endocrinology practice to the next level and gain in-depth knowledge on disease recurrence, treatment options, and patient-centered care strategies. Join us as Dr. Maria Fleseriu and Dr. Richard Auchus discuss ways to optimize outcomes for your patients with Cushing's disease.
Host: Susan L Samson, MD, PhD, FRCPC, FACE
Guest: Kevin C.J. Yuen, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Kevin C.J. Yuen, MD
Guest: Eliza B. Geer, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Susan L Samson, MD, PhD, FRCPC, FACE
Guest: Eliza B. Geer, MD
Guest: Kevin C.J. Yuen, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Eliza B. Geer, MD
Guest: Susan L Samson, MD, PhD, FRCPC, FACE
Guest: Kevin C.J. Yuen, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Susan L Samson, MD, PhD, FRCPC, FACE
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Eliza B. Geer, MD
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Kevin C.J. Yuen, MD
Guest: Susan L Samson, MD, PhD, FRCPC, FACE
Elevate your clinical expertise in acromegaly by delving into the latest advances in diagnosis, treatment modalities, and patient-centered care to foster a deeper understanding of optimal management strategies. Join us to enhance your skills and contribute to improved outcomes for patients with acromegaly.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Pietro A. Canetta, MD
The available treatment options and even the current guidelines for the management of IgA nephropathy (IgAN) come with several limitations. Fortunately, new therapies are on the horizon that can help us address those challenges and slow disease progression in IgAN. Here with Dr. Charles Turck to discuss limitations and advances in the IgAN treatment landscape is Dr. Pietro Canetta, Associate Professor of Medicine at Columbia University Medical Center in New York.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Rajeev Raghavan, MD, M.Ed, FASN
There are several key markers of disease progression in IgA nephropathy (IgAN) that we should be aware of, and the biochemical pathways involving endothelin-1 (ET-1) and angiotensin II (Ang II) play an important role in driving that progression. Joining Dr. Charles Turck to shed light on these two pathways and how our knowledge of ET-1 and Ang II may impact the treatment landscape is Dr. Rajeev Raghavan, Program Director for HCA Kingwood Internal Medicine in Texas.
Host: Sudipto Mukherjee, MD, PhD, MPH
Guest: Corey Casper, MD, MPH
Guest: Jovanna De La Pena
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Sudipto Mukherjee, MD, PhD, MPH
Guest: Corey Casper, MD, MPH
Guest: Jovanna De La Pena
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
Guest: Jovanna De La Pena
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Corey Casper, MD, MPH
Guest: Sudipto Mukherjee, MD, PhD, MPH
Guest: Jovanna De La Pena
This series of bite-sized episodes will take you on the winding journey that patients with idiopathic multicentric Castleman disease (iMCD) often undergo to achieve an accurate diagnosis. Once the condition is finally identified, even the most astute specialists can find themselves challenged by the treatment, management, and monitoring of these patients. Join Drs. Corey Casper and Sudipto Mukherjee as they explain the ups and downs of this rare disease.
Host: Gates B. Colbert, MD, FASN
Although immunosuppressive therapy has been the backbone of IgA nephropathy (IgAN) treatment, this type of approach comes with several challenges. Here to share how non-immunosuppressive treatments could help revolutionize the IgAN treatment landscape is Dr. Gates B. Colbert, Assistant Clinical Professor at Texas A&M College of Medicine.
Host: Peter Buch, MD, FACG, AGAF, FACP
Guest: Brooks D. Cash, MD, AGAF, FACG, FASGE
Acute colonic pseudo-obstruction, also known as Ogilvie’s syndrome, is a rare form of colonic dilatation that can be serious and life-threatening. To learn more about this disorder, Dr. Peter Buch and Dr. Brooks Cash take a look at risk factors, testing strategies, and treatment options for Ogilvie’s syndrome.
Host: Frederic Rahbari-Oskoui, MD, MSc
This Expert Exchange webcast is designed to help improve clinicians’ ability to apply pharmacologic and non-pharmacologic strategies in the management of patients with ADPKD.
Guest: Dr. Timothy Craig
Hereditary angioedema (HAE) is a rare genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.2 The unpredictability of these attacks is a significant burden on patients.3 Fortunately, preventive treatments like TAKHZYRO® (lanadelumab-flyo) can help reduce the frequency and severity of HAE attacks.1 Here to share key information and data on this treatment option is Dr. Timothy Craig, Professor of Pulmonary, Allergy, and Critical Care Medicine at Pennsylvania State University.
IndicationTAKHZYRO® (lanadelumab-flyo) is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥12 years of age.
Important Safety InformationHypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.
Adverse Reactions: The most commonly observed adverse reactions (≥10% and higher than placebo) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; myalgia; dizziness; and diarrhea. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.
Use in Specific Populations: The safety and efficacy of TAKHZYRO in pediatric patients <12 years of age have not been established.
No data are …
Host: Jennifer Caudle, DO
Guest: William Lumry, MD
Hereditary angioedema (HAE) is a rare, genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.1 These swelling attacks can be both painful and debilitating, which is why prevention is so important.1 So what are the treatment options available that can help prevent HAE attacks? Joining Dr. Jennifer Caudle to discuss the importance of long-term prevention for HAE and the role of the treatment option TAKHZYRO (lanadelumab-flyo) is Dr. William Lumry, Clinical Professor of Internal Medicine at the University of Texas Southwestern Medical School.
IndicationTAKHZYRO® is indicated for prophylaxis to prevent attacks of hereditary angioedema (HAE) in patients ≥12 years of age.
Important Safety InformationHypersensitivity reactions have been observed. In case of a severe hypersensitivity reaction, discontinue TAKHZYRO administration and institute appropriate treatment.
Adverse Reactions: The most commonly observed adverse reactions (≥10% and higher than placebo) associated with TAKHZYRO were injection site reactions consisting mainly of pain, erythema, and bruising at the injection site; upper respiratory infection; headache; rash; myalgia; dizziness; and diarrhea. Less common adverse reactions observed included elevated levels of transaminases; one patient discontinued the trial for elevated transaminases.
Use in Specific Populations: The safety and efficacy of TAKHZYRO in …
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John Mascarenhas, MD
Guest: Raajit Rampal, MD, PhD
What do we need to know about the therapeutic landscape and management of myelofibrosis-related anemia? Here to share their perspectives with Dr. Charles Turk are Dr. Raajit Rampal from the Memorial Sloan Kettering Cancer Center and Dr. John Mascarenhas from Mount Sinai.
Host: Martin Pollak, MD
Guest: Susanne Nicholas, MD, MPH, PhD
End-stage kidney disease (ESKD) is at least 3x higher among African Americans compared to Americans of European descent. Carriers of APOL1 variants with chronic kidney disease (CKD) are associated with more rapid disease progression and an increased risk of kidney failure. Join Drs. Martin Pollak and Susanne Nicholas as they discuss the epidemiology and possible mechanisms of APOL1 kidney disease, as well as recent clinical evidence for therapies in development that can potentially prevent rapid disease progression.
Host: Aaron Gerds, MD
There are two key unmet needs in the treatment of myelofibrosis. Here to share what those are and how we can work to address them is Dr. Aaron Gerds from the Cleveland Clinic.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: John Mascarenhas, MD
There are several challenges and limitations associated with the current therapeutic options available for myelofibrosis-related anemia, leading to a recent push to transform the treatment paradigm. Joining Dr. Charles Turck to share strategies for optimizing the care of patients with myelofibrosis-related anemia is Dr. John Mascarenhas, Director of the Center of Excellence for Blood Cancers and Myeloid Disorders at the Mount Sinai Tisch Cancer Center.
Host: Srdan (Serge) Verstovsek, MD, PhD
Unfortunately, anemia is very prevalent among patients with myelofibrosis. Learn more about the impact of myelofibrosis-related anemia on patients and the clinicians treating them with Dr. Srdan Verstovsek, Professor in the Department of Leukemia at the University of Texas MD Anderson Cancer Center.
Guest: John Anderson, MD
HAE is a rare, autosomal dominant genetic disease that can cause recurrent, unpredictable, and potentially life-threatening attacks of swelling in the body.1 There are approximately 6,000 patients living with HAE in the U.S. alone,2 and it’s not uncommon for patients to go undiagnosed for years after they start experiencing symptoms.1 Since early diagnosis is vital to creating a management plan that meets each patient’s individual needs,2 Dr. John Anderson is here to share key information on how we can better diagnose HAE in our patients.
References:
- Banerji A. Hereditary Angioedema: Classification, Pathogenesis, and Diagnosis. Allergy Asthma Proc. 2011;32:403–407.
- Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.
©2022 Takeda Pharmaceutical Company Limited. All rights reserved.
US-NON-7744v1.0 10/22
Host: Mario R. Nacinovich, Jr., MSc
Guest: Walter Koroshetz, MD
Amyotrophic lateral sclerosis (ALS) is a rare neurogenerative disease, and organizations including the FDA and NIH are working to accelerate potential therapies. What’s on the horizon for the treatment landscape? Mario Nacinovich joins Dr. Walter Koroshetz, who is the Director of the National Institute of Neurological Disorders and Stroke, to explore these new developments.
Host: Maria Fleseriu, MD, FACE
Guest: Irina Bancos, MD
Cushing’s disease is complex, and individualized approaches require the consideration of many patient factors. You and your patient also need to know what to expect in terms of therapeutic response and speed of recovery. Tune in as Drs. Maria Fleseriu and Irina Bancos address these challenges and more!
Guest: Marc Riedl, MD, MS
Prior to 2008, there were limited approved treatment options for hereditary angioedema (HAE) available in the United States, but today, there are several medications approved by the U.S. Food and Drug Administration for preventing and treating HAE attacks.1 In light of the number of therapies that have been approved in recent years and continued clinical advancements in HAE research, what do we need to consider when discussing these treatment options with our patients? Here to share those key considerations and important information on the HAE treatment landscape is Dr. Marc Riedl.
References:
- Busse PJ, Christiansen SC, Riedl MA, Banerji A, Bernstein JA, Castaldo AJ, Craig T, Davis-Lorton M, Frank MM, Li HH, Lumry WR, Zuraw BL. US HAEA Medical Advisory Board 2020 Guidelines for the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2021 Jan;9(1):132-150.e3.
©2022 Takeda Pharmaceutical Company Limited. All rights reserved.
Host: Cem Akin, MD, PhD
Guest: Jason Gotlib, MD, MS
It could take up to 7 years for a patient to be accurately diagnosed with systemic mastocytosis. Drs. Jason Gotlib and Cem Akin take us through the guidelines, diagnostic criteria, signs and symptoms, and the most important diagnostic tests for high-suspicion patients.
Host: Rami Komrokji, MD
Guest: Michael R. Savona, MD
Guest: Jamile Shammo, MD, FASCP, FACP
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms associated with cytopenias, suboptimal production of mature erythrocytes, and substantial risk for progression to acute myeloid leukemia.
The classification of MDS and MDS/myeloproliferative neoplasm (MPN) overlap syndromes continue to evolve, making them difficult for clinicians to define and raising important new considerations for diagnosis, assessment, risk stratification, and treatment. The presence of ring sideroblasts (RS) and mutations in the SF3B1 gene correlate with favorable outcomes and help define specific disease subtypes.
In this video-based educational activity, an interview-style expert faculty panel will provide their perspectives and insights on the latest trends and emerging research in low-risk MDS, including guideline-directed diagnostic workup, RS evaluation and SF3B1 testing and their implications, currently approved and novel emerging treatment strategies for managing lower risk MDS, and strategies to mitigate and manage treatment-related adverse events.
Host: Andrew Wilner, MD, Author of "The Locum Life: A Physician's Guide to Locum Tenens"
Guest: Jason Barton, MD, PhD, FRCP(C)
Prosopagnosia, also known as face blindness, is a rare cognitive disorder. Joining Dr. Andrew Wilner to share his insights on this condition is Dr. Jason Barton, a Professor of Neurology, Ophthalmology and Visual Sciences, and Psychology at the University of British Columbia in Vancouver, Canada.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Nick Kusnezov, MD
Can you balance locum tenens with a full-time career? To answer that question, Dr. Charles Turck is joined by board-certified orthopedic surgeon, Dr. Nicholas Kusnezov, to walk us through his journey from joining the military to locum tenens.
Host: Jennifer Caudle, DO
Guest: Roni Devlin, MD
As rates of burnout continue to rise in the healthcare community, how can help our female physicians combat it? Dr. Jennifer Caudle joins Infectious Disease Specialist, Dr. Roni Devlin, to discuss how we can prevent burnout for female physicians.
Host: Paul P. Doghramji, MD, FAAFP
Guest: Samantha Conroy, MD
Locum tenens can improve quality of care around the globe—especially in remote and underserved communities. To share how, Dr. Paul Doghramji joins Dr. Samantha Conroy, a family practice obstetrician to share her experiences working as a locum tenens obstetrician in underserved communities.
Host: Jennifer Caudle, DO
Guest: Maurice G. Sholas, MD, PhD
After years of serving the New Orleans community, one physician decided to pursue locum tenens work. Dr. Jennifer Caudle joins Dr. Maurice Sholas, a pediatric physical rehabilitation physician, to share his experiences with locum tenens and in New Orleans.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Trevor Cabrera, MD
What’s it like becoming a locum tenens physician right out of residency? Dr. Charles Turck joins Dr. Trevor Cabrera, a Board-Certified pediatrician who trained in Houston, Texas, to share his firsthand experience and offer advice for residents.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Trevor Cabrera, MD
What’s it like becoming a locum tenens physician right out of residency? Dr. Charles Turck joins Dr. Trevor Cabrera, a Board-Certified pediatrician who trained in Houston, Texas, to share his firsthand experience and offer advice for residents.
Host: John J. Russell, MD
Guest: Joseph E. Bavaria, MD
Featuring a wide range of disciplines and a new approach to comprehensive care, what do we need to know about the Aorta Center at Penn Medicine? Dr. John Russell is joined by Dr. Joseph E. Bavaria to dive into this aortic program and discuss a new approach to comprehensive care.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Kathryn Gallagher, MS, RN, BSN
Guest: Kate Newcomb-DeSanto, MSN, RN, MSW
What does Penn Medicine’s newly-opened patient room facility have to offer? Dr. Charles Turck is joined by Penn Medicine Clinical Advisors Kathy Gallagher and Kate Newcomb-DeSanto to discuss the new pavilion and how it's revolutionizing patient care.
Host: William Mencia, MD, FACEHP, CHCP
Guest: Eliza B. Geer, MD
The primary goals in the medical management of Cushing’s disease are to normalize cortisol levels and reduce or eliminate the associated comorbidities, physical features, and symptoms for our patients. With recently approved therapies and more in development, it really is an exciting time in this treatment space! Tune in to hear Dr. Eliza Geer discuss novel medical options and how we should remember the importance of looking at patient outcomes to make sure we’re addressing Cushing’s disease holistically.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Sandy Marks
Guest: Kim Horvath, JD
Guest: Kyle Thomson, JD
With telehealth services expanding during the COVID-19 pandemic, has our access to them changed? To better understand this, Dr. Charles Turck meets with Sandy Marks, Kim Horvath, and Kyle Thomson from the AMA to explore what’s been done to provide Medicare coverage during a public health emergency and what’s on the horizon for telehealth access.
Host: Clete A. Kushida, MD, PhD
Guest: Lois E. Krahn, MD
Tune in to hear about new treatments for patients with narcolepsy. Data were recently presented at the American College of Chest Physicians Annual Meeting, and Drs. Clete Kushida and Lois Krahn are breaking it down for you: they examine the evolving treatment landscape and dive into the latest research on currently available and emerging pharmacologic options including the expanding range of oxybate therapies. Join us and find out why it’s such an exciting time to be caring for patients with narcolepsy.
Host: Charles Turck, PharmD, BCPS, BCCCP
Guest: Emily Carroll, JD, MSW
The No Surprises Act aims to protect consumers from surprise medical bills. But how exactly does it go about doing that, and what’s the current status of its implementation? Joining Dr. Charles Turck to share progress and challenges associated with the No Surprises Act is Ms. Emily Carroll, a senior legislative attorney for the American Medical Association's Advocacy Resource Center.
Host: Jennifer Caudle, DO
Guest: Sarah Ali, MD
From working in a big city to taking on an assignment in a small mountain village, Dr. Sarah Ali from the Ventura County Medical Center joins Dr. Jennifer Caudle to talk about her adventures abroad with locum tenens and share key lessons she learned along the way.
Host: Paul P. Doghramji, MD, FAAFP
Guest: Mojgan Saber, MD
Can Locum Tenens be an option for healthcare professionals just completing their residency? Dr. Paul Doghramji is joined by Dr. Mojgan Saber to share her own experience as well as tips and tricks for residents looking at Locum Tenens right after residency.
Host: Louis Kuritzky, MD
Guest: Karl Doghramji, MD, FAASM, DFAPA
Guest: Julie Flygare, JD
Guest: Phyllis C. Zee, MD, PhD
Excessive sleepiness is a common, highly impactful problem not commonly reported and frequently misdiagnosed by physicians. While prevalence reports of narcolepsy vary, patients often do not seek medical advice for their symptoms or, if they do, they receive inaccurate diagnoses. Because of this, it’s possible that more than 1 in 2000 people are living with narcolepsy. It may even take 10 to 15 years to be diagnosed, during which time these patients are impaired. What signs and symptoms are both clinicians and patients missing?
Tune in to hear a patient, Julie Flygare, JD, recount her bizarre symptoms and receive clinical tips on how to improve your identification of overlooked sleep disorders and narcolepsy. Drs. Zee, Doghramji, and Kuritzky provide their clinical insight and expertise on this serious medical condition that continues to be grossly misdiagnosed, underdiagnosed, and undermanaged. By improving your ability to detect, accurately diagnose, and appropriately manage narcolepsy, you can improve the quality of life and health outcomes for your patients. Find out what subtle signs and red flags you need to be on the lookout for and what exciting therapies are now available for these patients.
Host: Charles P. Vega, MD
Guest: Candice Taylor Lucas, MD, MPH, FAAP
What is cultural humility, and how can it be incorporated into clinical practice? How does your patient's culture impact their health behaviors, and why does your culture matter?
Listen in as two leading experts navigate concerns surrounding cultural humility and emphasize the importance of empathy, awareness, and advocacy. Discover ways to integrate small but important changes into your clinical practice to help bridge communication gaps and enable your patients to thrive.
Host: Charles P. Vega, MD
Guest: Lionel Phillips, MBA
Learn why diversity in clinical trials is so important to community health. Two experts discuss the key role that trusted messengers play in enrollment, why it is critical to break the cycle of medical mistrust, and the downstream effect of a lack of diversity in clinical trials.
Host: Charles P. Vega, MD
Guest: Robert O. Roswell, MD, FACC, FACP
Diversifying our physician workforce so that it is more racially, ethnically, and geographically balanced can ultimately have a positive impact on community health. Join us as two experts discuss how pipeline programs reaching children as early as elementary school can help ensure workplace diversity. Also find out how clinicians can be advocates for their patients by helping to disentangle them from structural inequities and working towards policy changes. There’s a lot than can be done to provide more balanced care, but we need to look beyond simple fixes to the root causes of the issues. So find your bandwidth – that’s what you can do today – and discover why it’s so important to move upstream to solve the problems manifesting downstream.
Host: Charles P. Vega, MD
Guest: Sateria Venable
Regional healthcare disparities are biases that are based on where people live. Are your patients’ treatment options being impacted and limited by their geographical location? Join us as our two experts discuss how to support broader policy issues and highlight the importance of diagnostic algorithms that have been developed with diverse input. These steps may be of value in your clinical practice to ensure all patients have equal access to care regardless of their epidemiologic, socioeconomic, or insurance circumstances.
Host: Clete A. Kushida, MD, PhD
Guest: Michael J. Thorpy, MD
While gaps in care remain, the future is bright for patients with narcolepsy. Data from cutting-edge clinical trials were recently presented at 2021 Virtual Sleep, the 35th Annual Meeting of the Associated Professional Sleep Societies, and Drs. Clete Kushida and Michael Thorpy are ready to break it down for you. Join them as they examine the main barriers to timely diagnosis and treatment and then dive into the latest research on currently available and emerging pharmacologic therapies. Tune in to stay up to date on the latest progress and research on the management of patients with narcolepsy.
Host: Loretta J. Nastoupil, MD
Guest: John P. Leonard, MD
Recent clinical trial evidence supports the use of available and emerging options in relapsing/refractory follicular lymphoma. In this case-based activity, Dr. Loretta Nastoupil and Dr. John Leonard discuss the importance of testing for EZH2 mutations in follicular lymphoma, choosing the appropriate treatment option for each patient, and how to minimize risk to improve patient outcomes.
Host: Loretta J. Nastoupil, MD
Guest: Gilles Salles, MD
Follicular lymphoma (FL) is an incurable neoplasm that is frequently associated with relapse and refractory (R/R) disease. In this activity, Drs. Loretta Nastoupil and Gilles Salles will review the role of EZH2 modulation in FL and explain the role that EZH2 inhibition can play in R/R disease. They will also discuss the many available oral therapeutic options and emerging therapies on the horizon, recent data from those clinical trials, and where these therapies will fit into clinical practice.
Host: Loretta J. Nastoupil, MD
Guest: Matthew J. Matasar, MD
The epigenetic modulator EZH2 is known to play a crucial role in mediating the lymphomagenesis of follicular lymphoma (FL), and the inhibition of EZH2 in the relapsing/refractory disease setting has shown efficacy. In this activity, Drs. Matasar and Nastoupil discuss the role of EZH2 in the pathobiology of FL, emphasize the need to test for mutations in EZH2 in FL, and explore the potential of targeting EZH2 in different settings of FL treatment.
Host: Susan L Samson, MD, PhD, FRCPC, FACE
Guest: Kevin C.J. Yuen, MD
Acromegaly is a rare disorder caused by excess growth hormone production and is associated with increased morbidity and mortality. Delays in the diagnosis and initiation of therapy or the provision of suboptimal therapy often negatively impact the quality of life of these patients. Join us for this expert interview with Dr. Susan Samson and Dr. Kevin Yuen who offer insights to help you overcome the complex medical challenges often faced when managing patients with acromegaly, including strategies to apply the latest guidelines and the 2020 consensus statement into clinical practice.
Host: Michael Greenberg, MD
Guest: Peter B. Crino, MD, PhD
How does tuberous sclerosis impact patients? Dr. Michael Greenberg joins Dr. Peter Crino, the chair of the Department of Neurology at the University of Maryland School of Medicine, to discuss tuberous sclerosis complex, or TSC.
Host: Shannon L. Meeks, MD
Guest: Jonathan C. Roberts, MD
Dr. Shannon Meeks and Dr. Jonathan Roberts give an overview of the treatments used for the management of hemophilia A and discuss the safety and efficacy of these treatments. Using a patient case, they illustrate the pharmacovigilance process and explain how to implement this important reporting structure into everyday practice.
Host: Shannon L. Meeks, MD
Guest: Cindy Leissinger, MD
Pharmacovigilance begins after clinical trials end and new therapies enter everyday practice. Due to the rarity of hemophilia, participation in clinical trials has necessarily been small, and so monitoring the safety of new hemophilia treatments is especially important. Continued surveillance of adverse drug reactions (ADRs) after approval is a responsibility that falls on all members of the care team.
Dr. Shannon Meeks and Dr. Cindy Leissinger discuss the importance of safety surveillance and monitoring for novel hemophilia A therapeutics. To give a better understanding of pharmacovigilance, this activity includes animation that breaks down the process and illustrates where your ADR reports go and what happens next.
Host: Jennifer Caudle, DO
The month of September is dedicated to raising awareness of sickle cell disease, which affects approximately 70,000 to 100,000 Americans each year. Here to tell us more about this prevalent condition and the various resources available is Dr. Jennifer Caudle.
Host: Maurice Pickard, MD
Guest: Allison Pataki
Five months pregnant, on a flight headed for Hawaii, Allison Pataki's life took a sudden turn when she witnessed her husband, Dave Levy, lose consciousness. After an emergency landing and evaluation, Levy was found to have had suffered a rare stroke.
When he woke the next day, he had amnesia, leaving the young couple holding onto hope for recovery. True to form, Pataki began to write letters to her husband—letters that became the foundation for Beauty in the Broken Places: A Memoir of Love, Faith, and Resilience.
Host: John J. Russell, MD
Guest: David Fajgenbaum, MD
Castleman disease, a rare idiopathic multicentric disorder, is diagnosed in approximately 5000 people in the United States each year. When one 3rd year medical student suddenly found himself facing this diagnosis personally, at a time when knowledge about the disease was minimal, he helped create a broad-based initiative to address this knowledge gap.
Host Dr. John Russell talks with Dr. David Fajgenbaum, a Research Assistant Professor of Medicine in Translational Medicine/Human Genetics and Associate Director of Patient Impact for the Penn Orphan Disease Center at the University of Pennsylvania. He is also co-founder of the Castleman Disease Collaborative Network, a global initiative dedicated to accelerating research and treatment for Castleman disease and improving survival for all patients.
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies Diana W. Bianchi, MD; Darya Chudova, PhD; Amy J. Sehnert, MD; Sucheta Bhatt, MD; Kathryn Murray, MS; Tracy L. Prosen, MD; Judy E. Garber, MD; Louise Wilkins-Haug, MD, PhD; Neeta L. Vora, MD; Stephen Warsof, MD; James Goldberg, MD; Tina Ziainia, MD; Meredith Halks-Miller, MD JAMA. 2015;314(2):162-169. doi:10.1001/jama.2015.7120 Importance: Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care.
Objective: To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies.
Design, Setting, and Participants: Case series identified from 125 426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation.
Exposures: NIPT …
Over the past decade, Food Protein Enterocolitis, or FPIES, has emerged as the most actively studied non–IgE-mediated gastrointestinal food allergy because of its acute onset, severity of symptoms, and distinctive clinical features. Yet as a rare allergic disorder of infancy and young childhood, it is often misinterpreted and misdiagnosed in clinical practice, leading to difficult treatment paths for patients and their families. Joining Dr. Renee Matthews to present a case history from the vantage point of a patient's mother, including challenges faced in reaching the correct diagnosis and starting effective treatment regimens, is Jennifer Kandt.
Host: John J. Russell, MD
An award-winning memoir that goes far beyond its riveting medical mystery, Brain on Fire is the powerful account of one woman's struggle to recapture her identity. When twenty-four-year-old Susannah Cahalan woke up alone in a hospital room, strapped to her bed and unable to move or speak, she had no memory of how she'd gotten there. Only days earlier, she had been leading an exciting life at the beginning of her promising career at a major New York newspaper. Now she was labeled violent, psychotic, a flight risk. What happened?
Susannah's memoir tells the astonishing true story of her descent into madness, her family's inspiring faith in her, and the lifesaving diagnosis of an exceedingly rare disease which led to her complete recovery.
Host: Aaron Carroll, MD
Guest: Rodrigo M. Vianna, MD
Multivisceral transplant entails the transplant of nearly all the abdominal organs, with the exception of the kidneys. It is a highly unusual procedure, with only about 30-40 such surgeries occurring per year in the United States, compared to thousands of liver transplants performed annually, in only about seven transplant centers in the United States. Host Dr. Aaron Carroll welcomes Dr. Rodrigo Vianna, director of intestinal and multivisceral transplant at Indiana University Health, to discuss when multivisceral transplant can be used to treat patients with rare tumors, such as neuroendorcrine or desmoid tumors.
Host: Anthony Alessi, MD
Guest: Carl Ansevin, MD
For the 12 million Americans who suffer from restless leg syndrome (RLS), the disease can often be misdiagnosed and misunderstood. Doctors as well as their patients are now more familiar with RLS due to the intense marketing of drugs used to treat restless legs syndrome. Host Dr. Anthony Alessi talks with Dr. Carl Ansevin, an adjunct faculty member in the department of biomedical sciences at Kent State University and sleep specialist at the Ohio Neurologic Institute in Boardman, Ohio, about how to properly diagnose and treat restless leg syndrome and which patients are more at risk of developing the disease.
Guest: Berish Rubin, PhD
Host: Bruce Bloom, DDS, JD
Only a few years ago familial dysautonomia (FD) was a fatal disease, but some "Rediscovery Research" from the FD lab at Fordham University in Bronx, New York, is turning this killer into a chronic manageable disease. What have we learned from familial dysautonomia research, and how might this help patients with other diseases? Joining host Dr. Bruce Bloom to provide an update on current FD research and treatment is Dr. Berish Rubin, professor in the department of biological sciences and head of the laboratory for familial dysautonomia research at Fordham University.
Host: Janet Wright, MD
Guest: Scott Sharkey, MD
Takotsubo, or stress-induced cardiomyopathy (also known as 'broken heart syndrome'), was first recognized in Japan in the 1990s. Acute emotional or physical stress trigger the condition, which mimics the symptoms of a myocardial infarction (or MI). How can physicians differentiate between stress-induced cardiomyopathy and a more conventional MI, and how is stress-induced cardiomyopathy treated? What characteristics might make a patient more susceptible to developing this condition? Our guest is Dr. Scott Sharkey, senior consulting cardiologist at Minneapolis Heart Institute and director of the Takotsubo cardiomyopathy research program at the Minneapolis Heart Institute Foundation in Minnesota, shares some of the key diagnostic tests for differentiating between stress-induced cardiomyopathy and conventional MI. How common is this condition, and how can we limit the effects of stress-induced cardiomyopathy? Dr. Janet Wright hosts.
Produced in Cooperation with
Host: Bruce Bloom, DDS, JD
Guest: Charles Mullighan, MBBS, MSc, MD
How does understanding the genetics of rare disease help us understand other pressing pediatric problems? Dr. Charles Mullighan is assistant member of the faculty, pathology department, St. Jude Children's Research Hospital. He joins Dr. Bruce Bloom to discuss the genetics of acute lymphoblastic leukemia.
Host: Anthony Alessi, MD
Guest: James Sejvar, MD
How is the CDC monitoring neurological complications from the H1N1 vaccine as it relates to the risk of Guillain-Barre syndrome? Dr. James Sejvar, neuroepidemiologist in the division of viral and rickettsial diseases at the National Center for Infectious Diseases and the Center for Disease Control and Prevention, outlines for host Dr. Anthony Alessi the historical association between swine flu vaccination and Guillain-Barre syndrome.
Host: Michael Greenberg, MD
Guest: Anne Louise Oaklander, MD, PhD
How is complex regional pain syndrome (CRPS) distinguished from chronic or phantom limb pain? Can something as simple as a fracture or blood drawing trigger this condition? Dr. Anne-Louise Oaklander, associate professor of neurology at Harvard Medical School, joins host Dr. Michael Greenberg to discuss the intricacies of neuropathic pain. Since CRPS is rare, at what point should a physician suspect CRPS, and can this condition be treated?
Host: Michael Greenberg, MD
Guest: Anne Louise Oaklander, MD, PhD
An HIV-positive patient developed shingles. After the shingles healed, this patient began experiencing a very severe unremitting itch, which caused her to scratch through her own skull while sleeping one night. How is this possible, and what are the mechanics of itch that would allow a patient to feel no pain from scratching? Dr. Anne Louise Oaklander, associate professor of neurology at Harvard Medical School, reveals the pathophysiology of neurological itch. Is itch really just low-level firing of pain neurons, or is itch entirely distinct? Dr. Michael Greenberg hosts.
Host: Ketan Sheth, MD, MBA
Guest: William Lumry, MD
Hereditary angioedema is relatively rare and is often misdiagnosed as an allergic reaction to medication or food. What symptoms are helpful differentiating points for making an accurate hereditary angioedema diagnosis? Dr. William Lumry, clinical professor of internal medicine at the University of Texas Southwestern Medical School, outlines the types of hereditary angioedema, factors which can contribute to an acute attack, and therapies to prevent or treat patients with this condition. Dr. Ketan Sheth hosts.
Host: Bruce Bloom, DDS, JD
Guest: Eamonn R. Maher, MD
Guest: John Solly, PhD
Skin lesions, pneumothorax and kidney tumors? Is it Birt-Hogg-Dubé Syndrome? Described in the late 1970s, Birt-Hogg-Dubé was very difficult to recognize until recent molecular genetic testing made the diagnosis of this orphan disease more accurate. What is this disease? What systems does it affect? How do we treat it and what is the hope for the future? Join host Dr. Bruce Bloom and his guests Dr. Eamonn Maher, professor of medical genetics and department head of medical and molecular genetics at the University of Birmingham in the UK, and John Solly, director of the Myrovlytis Trust, a UK charity dedicated to the promotion of research into rare genetic disorders.
Host: Bruce Bloom, DDS, JD
Guest: John Solly, PhD
The worldwide effort to find cures for rare disease is often the work of small organizations such as the the Myrovlytis Trust, a not-for-profit organization in Great Britain dedicated to finding treatments and cures for rare diseases. John Solly, charity manager for the Myrovlytis Trust, talks with host Dr. Bruce Bloom, the rationale for focusing large dollars on diseases affecting a small population and how the Trust is approaching the search for a cure to their first target disease, Birt-Hogg-Dubé Syndrome.
Host: Bruce Bloom, DDS, JD
Guest: David J. Kuter, MD
New drug therapies have just become available for the rare disease Idiopathic Thrombocytopenic Purpura or ITP. Join our guest Dr. David J. Kuter, director of hematology, at Massachusetts General Hospital in Boston to explain the development of romiplostim and other ITP drugs and what clinical impact they are having. Hosted by Dr. Bruce Bloom
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
Diagnosis of the genetic disorder Fragile X syndrome can be devastating for our young patients and their families, knowing that both the patient and their elders can be affected by this condition. Should we expand current screening measures for Fragile X? As clinicians, how do we guide patients and their families through this process of understanding their diagnosis? Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, joins host Dr. Mark Nolan Hill to talk about the nuances of this genetic condition.
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
We are rapidly learning more about the genetic disorder Fragile X syndrome, and a series of conditions related to Fragile X. We're also seeing great progress in promising therapies under investigation. How will these therapies, along with other treatment strategies, improve the lives of children and families affected by Fragile X and related conditions? Who should supervise care, and should treatment for children be coordinated with care of potentially affected relatives? Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, shares her expansive expertise on Fragile X syndrome and associated conditions with host Dr. Mark Nolan Hill. If a child is diagnosed with Fragile X, is genetic screening inevitably warranted for parents and grandparents?
Host: Mark Nolan Hill, MD
Guest: Randi Hagerman, MD
It's responsible for more than five percent of all cases of autism, and it's the most common cause of inherited mental retardation. But are we as familiar as we need to be with Fragile X syndrome, and a series of genetic conditions related to Fragile X? Host Dr. Mark Nolan Hill welcomes Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, for a stimulating conversation about our rapidly expanding knowledge of these genetic conditions. How do the signs and symptoms manifest in children, and how does Fragile X impact our elder generations?
Host: Michael Greenberg, MD
Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden death in young athletes. Joining host Dr. Michael Greenberg to discuss HCM is Dr. Martin Maron, director of the Hypertrophic Cardiomyopathy Center and co-director of cardiac MRI and CT at Tufts Medical Center. As an imaging specialist, Dr. Maron utilizes cardiac MRI and cardiac CT for the evaluation and treatment of patients. Discussing all aspects of HCM, Dr. Maron and Dr. Greenberg address this most common of all genetic cardiac diseases (occurring in 1/500 individuals), invasive and non-invasive treatment, and implications for HCM patients involved in sports.
Host: Maurice Pickard, MD
Guest: William Gahl, MD, PhD
Guest: Stephen Groft, PharmD
Some patients wait years for a definitive diagnosis. Using a combination of scientific resources and medical expertise at the National Institutes of Health (NIH), the Undiagnosed Diseases Program now provides a place for physicians to refer patients when a diagnosis eludes them. In this segment, host Dr. Maurice Pickard, speaks with Dr. William Gahl, director of the Undiagnosed Diseases Program, and Stephen Groft PharmD, director of the Office of Rare Diseases at the NIH, about program logistics and resources, and the referral process for doctors.
Host: Bruce Japsen
Guest: Jeffrey Aronin, MBA
It seems most drug-makers are making their biggest sales to doctors by pushing medicines for common conditions whether they be statins for cholesterol or proton pump inhibitors for heartburn. But drugs can actually take on blockbuster significance for specialized treatment groups where treatment options are limited. Jeffrey Aronin, president and CEO of Ovation Pharmaceuticals Inc. tells the Chicago Tribune's Bruce Japsen about his company's efforts to build blockbuster franchises by treating rare conditions.
Host: Bruce Japsen
Guest: Jeffrey Aronin, MBA
Not all drug companies are in pursuit of billion-dollar blockbuster drugs taken by millions of Americans. In fact, there are drugs treating rare conditions that wouldn't be sold on the market if not for a landmark piece of legislation known as the Orphan Drug Act, now 25 years old. Jeffrey Aronin, president and CEO of Ovation Pharmaceuticals Inc. tells the Chicago Tribune's Bruce Japsen about the silver anniversary of the Orphan Drug Act, its benefits and its future potential.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show improvement with enzyme therapy? What are the most common side effects? Join host Dr. Mark Nolan Hill for an interesting conversation with Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading experts on Hunter syndrome.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.
Host: Mark Nolan Hill, MD
Guest: Joseph Muenzer, MD
Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.
Host: Lauren Streicher, MD
Guest: Marla Mendelson, MD
Marfan Syndrome, an inherited connective tissue disorder, affects 1 in 10,000 to 1 in 20,000 individuals. Women with Marfan Syndrome have a wide range of abnormalities involving the lungs, skin, ocular, musculoskeletal and cardiovascular systems. Today we are joined by Dr. Marla A. Mendelson, an assistant professor of Medicine at Northwestern University’s Feinberg School of Medicine, and director of the Women’s Cardiology program of the Bluhm Cardiovascular Institute of Northwestern Memorial Hospital which has just opened a clinic devoted to the management of women with Marfan syndrome.
Host: Maurice Pickard, MD
Guest: Richard King
In his book “My Maggie,” Chicago sports anchor Rich King writes a powerful, complex, and memorable love story about his childhood sweetheart and wife of 32 years. Diagnosed with hearing loss at the age of four, Maggie wore cumbersome hearing aids and felt the humiliation of being "different." Slowly, an insidious disease later diagnosed as Usher Syndrome robbed her of vision. But she soldiered on, having fought three different cancers, changed careers in the middle of her life and fought to realize her dreams. Maggie King confronted this progressive disease with courage and dignity throughout her career in nursing and later as a strong advocate for the disabled.
Host: Maurice Pickard, MD
Guest: Richard King
In his book “My Maggie,” Chicago sports anchor Rich King writes a powerful, complex, and memorable love story about his childhood sweetheart and wife of 32 years. Diagnosed with hearing loss at the age of four, Maggie wore cumbersome hearing aids and felt the humiliation of being "different." Slowly, an insidious disease later diagnosed as Usher Syndrome robbed her of vision. But she soldiered on, having fought three different cancers, changed careers in the middle of her life and fought to realize her dreams. Maggie King confronted this progressive disease with courage and dignity throughout her career in nursing and later as a strong advocate for the disabled.
Host: Michael Greenberg, MD
Guest: Hugh Rienhoff, MD
Dr. Michael Greenberg speaks with Dr. Hugh Rienhoff about www.mydaughtersdna.org, a website he created to help children with rare or difficult-to-diagnose genetic diseases find proper diagnoses and help.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his new research repurposing pharmaceutical and botanical medicines for diseases like Lupus and ALPS.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, a world-class laboratory and clinical researcher and an Instructor in the Department of Pediatrics, Division of Oncology, at the Children’s Hospital of Philadelphia discusses his research breakthrough in treating Autoimmune Lymphoproliferative Syndrome.
Host: Bruce Bloom, DDS, JD
Guest: David Teachey, MD
Dr. David Teachey, a practicing pediatric hematologist-oncologist, laboratory and clinical researcher, and instructor in the department of pediatrics, division of oncology, at the Children’s Hospital of Philadelphia, explains to host Bruce Bloom his breakthrough research that may resolve symptoms for children saddled with the rare genetic disorder, Autoimmune Lymphoproliferative Syndrome.
Host: Andrew Krakowski, MD
Guest: Bari Cunningham, MD
Imagine that you have a rare condition called Xeroderma Pigmentosum (XP) in which even the slightest amount of UV radiation from the Sun turns your skin to cancer; left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it.
Join Dr. Andrew Krakowski as he joins Dr. Bari Cuningham to discuss her remarkable journey through the wilderness of Guatemala to a small town where an autosomal recessive disease has dominated the local population and cast a shadow on life in this village. Then hear how a new day may be dawning for these special people thanks to a support team that is now championing their cause.
Host: Andrew Krakowski, MD
Guest: Bari Cunningham, MD
It's a rare condition in which even minimal amounts of UV radiation are deadly to the skin. Left untreated, a child will likely die before age 10. Sadly, xeroderma pigmentosum has devastated the local population of a small Guatemalan town. Dr. Bari Cunningham, associate professor of pediatric dermatology at the University of California, San Diego School of Medicine, talks with host Dr. Andrew Krakowski about a journey through the wilderness of Guatemala, where the autosomal recessive disease has cast a shadow on life in this village. But a new day may be dawning for these people, thanks to a support team that is now championing their cause.
Host: Andrew Krakowski, MD
Guest: Bari Cunningham, MD
Imagine that you have a rare condition called xeroderma pigmentosum (XP) in which even the slightest amount of UV radiation from the sun turns your skin to cancer. Left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it. Dr. Bari Cunningham, a pediatric dermatologic surgeon at Rady Children's Hospital of San Diego, journied through the wilderness of Guatemala to a small town where the autosomal recessive disease has dominated the local population and has cast a shadow on life in this simple village. In this segment hear about the fundamentals for the disease process, its prevalence both nationally and globally, and how experts approach XP patients in high- vs low-resource areas. Dr. Andrew Krakowski hosts.
Host: Larry Kaskel, MD
Guest: Elizabeth Tieman, MD
Work-life balance: how many of us can say we have it, let alone come close to having it? Board-certified radiologist Dr. Betsy Tieman is one healthcare professional who can say she achieved work-life balance by leaving private practice where she was working 14 hours a day to take advantage of locum tenens work, which also enabled her to train and compete in triathlons.