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.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Melinda Bachini, chief patient officer at the Cholangiocarcinoma Foundation, about a new study detailing the burden on caregivers of people with cholangiocarcinoma.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kyle Bryant, director of the Ambassador Program at the Friedreich's Ataxia Research Alliance (FARA), and founder and director of rideATAXIA.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul Bolno, MD, the CEO of Wave Life Sciences, whose investigational therapy WVE-003 is a potential treatment for Huntington disease.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Chris Peetz, CEO of Mirum Pharmaceuticals, about the growing number of treatments for pruritis (severe itch), one of the worst symptoms associated with Alagille syndrome.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Belgian molecular biologist Thierry VandenDriessche, PhD, president of the local organizing committee of the European Society of Gene & Cell Therapy.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Brian O'Mahony, president of the Irish Haemophilia Society and one of the few hemophilia B patients in Europe to receive gene therapy.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Selene Capodarca. This Italian expert in pharmaceutical chemistry and technology, is the global study director for Enroll-HD, with 30,000 patients the world's largest observational study in Huntington disease.

Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Professor Claire Booth of University College London and cofounder of the AGORA Initiative, which aims to tackle the growing economic hurdles that prevent lifesaving gene therapies from reaching children who need them the most.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paul Bolno, MD, the CEO of Wave Life Sciences, whose investigational therapy WVE-006 is a potential treatment for the liver disease associated with alpha-1 antitrypsin disorder (AATD).

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Brazilian bleeding disorders expert Margareth Ozelo, who has been researching gene therapies for hemophilia for the past 25 years.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Rob Haselberg, a Dutch patient advocate for Huntington disease who is heatlhy now, but will develop HD later in life after having tested positive for the incurable, progressive illness.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Herwig Lange, MD, a neurologist who has been researching Huntington disease since 1969. Dr. Lange, a proponent of non-drug therapy to improve the lives of HD patients, is also president of the German Huntington Association.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cathleen Lutz, PhD, vice president of the Jackson Laboratory's Rare Disease Transactional Center in Bar Harbor, Maine. Dr. Lutz is leading efforts to implement the latest genomic editing techniques to address the actual genetic defect in Friedreich ataxia, with the goal of translating it to the clinic.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Heather Stefanski, MD, PhD, vice president of medical services at the National Marrow Donor Program / Be The Match. Previously, she was an associate professor of pediatrics at the University of Minnesota. Dr. Stefanski's research focuses on children with life-threatening blood and immune system disorders.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Astri Arnesen, president and CEO of the European Huntington Association (EHA), about current research trends and the potential for gene therapy to treat Huntington disease ahead of EHA's 2023 conference in Blankenberge, Belgium.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Derek de Winter, coordinating investigator of the DIONYSUS study, a Dutch-based international retrospective registry on hemolytic disease of the fetus and newborn (HDFN).

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Juan Valle, MB ChB, about his appointment as the Cholangiocarcinoma Foundation's first-ever chief medical officer and what it means for patients with the disease.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Paige Rivard, past president of the Prader-Willi Syndrome Association USA, on the extreme challenges faced by parents of children with this disease.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Lorenza Rimassa, MD, associate professor of medical oncology at Italy’s Humanitas University and Humanitas Research Hospital, about current research on treatment options for cholangiocarcinoma. 

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida who specializes in treating children with Prader-Willi syndrome and other causes of excessive weight gain in childhood.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Knox, MD, at the 25th World Congress on Gastrointestinal Cancer in Barcelona, Spain. Dr. Knox, considered Canada's top expert in cholangiocarcinoma, ia a professor of medicine at the University of Toronto, and a staff medical oncologist at the Princess Margaret Cancer Center.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Daniel Fischer, president and CEO of Tevard Biosciences, which is "Dravet" spelled backwards. Fischer and his business partner, Warren Lammert—both fathers of girls with Dravet syndrome—are developing technologies to modulate RNA function to treat rare and severe diseases that are usually not amenable to traditional gene thera...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Damon Race, CEO of GeneVentive Therapeutics. The North Carolina-based startup hopes to develop a universal gene therapy that will benefit hemophilia A and B patients with inhibitors.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Bonni Goldstein, MD, a Los Angeles-based pediatrician and medical cannabis specialist who has treated more than 18,000 patients, 80% of whom are children with various forms of epilepsy, including Dravet and Lennox-Gastaut syndromes.