Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Pamela Gavin, the newly appointed CEO of the National Organization for Rare Disorders (NORD).Autor: Rare Care Podcast

I Care for Rare is a podcast for parents and families of people living with rare diseases. It’s co-hosted by Sherrilynne Starkie and Sandra Markus, the visionary behind the I Care for Rare campaign and its mission to create a collective voice for individuals, families, and caregivers living with rare diseases, inspired by her experience caring for …

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

Autor: Rare Care Podcast

Autor: Rare Care Podcast

The I Care for Rare podcast reveals the challenges faced by the families caring for people who have a rare health condition, In this episode we delve into the challenging world of rare diseases with Sandra Markus, founder of iCare4Rare, and Shaun Kehoe, a certified personal trainer with a remarkable journey of his own. Zach, Sandra’s adult son with…

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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, MD, of the Foundation for the National Institutes of Health (NIH) about the NIH's Bespoke Gene Therapy Consortium.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

I Care for Rare reveals the challenges faced by the families caring for people who have a rare health condition. In this episode of the I Care for Rare podcast host Sherrilynne Starkie and Sandra Markus, founder of I Care for Rare, welcome Carl Weatherall to the show. As father to Alyssa, a young woman who experiences hundreds of epileptic seizures…

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

In this episode of the I Care for Rare podcast hosts Sandra Markus and Sherrilynne Starkie interview Jen Schultz, a parent who is in the front lines of caring for a one-of-a-kind young woman. Her daughter Olivia is the only person in the world to be diagnosed with her rare disease. She has very complex needs and she and Jenn, as her carer, face man…

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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).Autor: Rare Care Podcast

In this episode of the I Care for Rare podcast hosts Sandra Markus and Sherrilynne Starkie interview Tammie Moretton, a parent who has journeyed the intricate road of caring for and raising a child with complex needs, and who sheds light on the challenges faced by such families in Canada. I Care for Rare is more than just a podcast; it's a social a…

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

Step into the world of rare diseases and learn about the challenges faced by families across Canada. In this inaugural episode of the I Care for Rare podcast host Sherrilynne Starkie welcomes Sandra Markus, the visionary behind the I Care for Rare campaign, to share her personal journey and the mission to create a collective voice for individuals, …

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 tran…

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 …

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.Autor: Rare Care Podcast

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).Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast

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 …

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 …

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.Autor: Rare Care Podcast

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.Autor: Rare Care Podcast