RARECast

Joseph La Barge, CEO of Apertura, about its platform technologies, how they work, and the potential for next-generation gene therapies to transcend the limits of first-generation AAV therapies.

Amanda Malakoff, executive director of the Rare Disease Company Coalition, discusses the policy landscape for rare disease therapies, unfinished business from the recent passage of a lean Prescription Drug User Fee Act, and policy priorities for 2023.

Ovid CEO Jeremy Levin and Angelman Syndrome Foundation CEO Amanda Moore discuss the LADDER database, Ovid’s decision to contribute its data to it, and why the two believe other drug developers should take similar steps to share their data with patients and researchers to advance the understanding of rare diseases.

Jack Johnson, co-founder of the Fabry Support and Information Group, discusses his experience with the condition, his journey into advocacy, and a recent externally-led Patient-Focused Drug Development meeting to help regulators and drug developers understand the need for new therapies to address the challenges of living with the disease.

Kyowa Kirin Vice President of Public Affairs Lauren Walrath and Co-Leader of the Immune Cell Regulation and Targeting Program at the Sidney Kimmel Cancer Center at Jefferson Health Pierluigi Porcu, discuss cancer cutaneous T-cell lymphoma, the disparities in care and outcomes for African Americans with the condition, and what they are doing to address that.

Tomi Pastinen, director of the Genomic Medicine Center at Children’s Mercy Kansas City, discusses the Genomic Answers for Kids program, how new sequencing technology is allowing it to diagnose rare disease patients who previously were undiagnosable, and how it has the potential to alter the diagnostic odyssey for patients with rare, genetic diseases.

Gabriele Brambilla, CEO and co-founder of Alira Health, about how Health Storylines platform to provide patients with greater control over their own health, how it is using the technology to drive decentralized clinical trials and the integration of real-world evidence in the drug development process, and the potential to leverage the platform to answer research questions outside of a traditional clinical study.

Charlene Son Rigby, who will take the helm of Global Genes following its merger with RARE-X, discusses the integration of the two organizations, the convergence of her personal and professional lives, and how the combination of the two organization will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments.

Founder of CureSPG50 Terry Pirovolakis and associate professor at UT Southwestern Medical Center Steven Gray discuss ultra-rare neurodevelopmental condition SPG50, the work to develop and advance an experimental gene therapy for the condition into the clinic, and why Pirovolakis says his work is not yet done.

Matt Hay, U.S. Director of advocacy for NF1 at Alexion, discusses his own journey as someone living with a rare disease, neurofibromatosis, and how his experience led him to become a patient advocate within the biopharmaceutical industry.