Actionable Mechanisms Driving Rare Disease

Explore cutting-edge research in rare disease mechanisms through this symposium session featuring three expert presentations on therapeutic targets and treatment approaches. Discover how somatic repeat expansion serves as a shared therapeutic target for repeat expansion disorders, learn about the functional and clinical impacts of CACNA1A de novo missense variants, and examine the broadened role of Survival of Motor Neuron protein in disease treatment. Gain insights from leading researchers Ricardo Mouro Pinto, Jen Pan, and Lee Rubin as they present their latest findings on actionable mechanisms that could drive new treatments for rare genetic diseases. Access comprehensive research presentations that bridge the gap between basic science discoveries and potential therapeutic applications for patients with rare conditions.