Rare Care Podcast

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, interiews Josh Disbrow, CEO of Aytu Bio, 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, 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, talks with Meredith 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 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 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 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.