A recent CACNA1A-focused issue of the Community Resonance Foundation’s Rare Awareness Radio ENCORES series highlights the work of UNC School of Medicine researcher Dr. Sam Young, whose lab in the Center for Molecular Medicine is helping to move the field closer to disease-modifying therapies for rare neurologic conditions. The ENCORES series brings together perspectives from researchers, clinicians, and families to translate complex science into accessible, community-informed insights.
At UNC Chapel Hill, Dr. Young is leading translational research aimed at addressing the root cause of CACNA1A-related disorders. His work focuses on developing innovative gene therapy strategies to restore function to the CACNA1A gene, which plays a critical role in neuronal signaling. Because CACNA1A is too large for commonly used delivery systems such as AAV vectors, his team is exploring alternative viral platforms that can carry the full gene and support long-term expression in key brain cells.
“We do not accept the world for the way it is,” Young says. “We chose to make the world the way it should be.”
While still in early stages, this research represents an important step toward therapies that could prevent neurodegeneration and improve outcomes for children affected by CACNA1A-related conditions—advancing UNC Children’s ongoing commitment to rare disease research and innovation.