RARECast

P.J. Brooks, deputy director of the Office for Rare Diseases Research at NCATS, discusses the newly created Bespoke Gene Therapy Consortium, why it is looking beyond the translational science challenges of gene therapies to include manufacturing and regulation, and how it hopes to accelerate the development of gene therapies for rare diseases.

Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, discusses his organization’s collaboration with Pacific Biosciences to use long-read whole genome sequencing to diagnose patients with rare diseases, how the technology differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.

Marius George Linguraru, who led a Children's National Hospital research team that developed digital biometric analysis software to help diagnose rare disease patients, discusses the diagnostic tool he developed, how it works, and a deal with a newly formed company to commercialize the technology.

Jonathan Cotliar, chief medical officer of Science 37, discusses the move toward decentralized clinical trials, how technology is changing the types of data that can be gathered, and how it is forever reshaping clinical studies.

Tom Frohlich, chief operating officer of Chinook Therapeutics, about rare kidney diseases, the company’s lead therapeutic candidate atrasentan for IgA nephropathy, and the company’s plans for commercialization.

James Dahlman, associate professor in the Department of Biomedical Engineering at Georgia Tech and Emory University, discusses the delivery challenges of genetic medicines, how nanoparticles compare to viral vectors, and what it takes to develop new vectors that can deliver genetic medicines to where they need to go.

Arthur Suckow, co-founder and CEO of DTx Pharma, discusses the delivery challenge of RNA therapies, how DTx’s platform technology addresses these, and how a $100 million financing from earlier this year will be used to fuel its growth.

Bill Sibold, executive vice president of Sanofi Genzyme and president of Sanofi North America, discusses the company’s Humanitarian Aid Program, how it works; and how it overcomes the regulatory, infrastructure, and medical challenges of delivering these treatments to patients around the globe.

Ashley Walker, an XLMTM patient advocate, discusses her own rare disease journey ahead of an externally-led XLMTM Patient-Focused Drug Development meeting, what life with the progressive neuromuscular condition is like, and her hopes that new treatments are not far away.

James Doyle, CEO of Modelis, discusses the use of model systems, how his company creates genetic avatars of patients; and how it works with rare disease drug developers, patient organizations, and patients to identify candidates for repurposing.