The DISC2 grant, from the California Institute for Regenerative Medicine (CIRM) and funded through The Quest Awards Program, promotes the development of stem cell and gene therapies.
Segal will receive $1.36 million to work on finding a treatment for Angelman syndrome, a rare neurogenetic condition. This disease, which affects around one in 15,000 births in the U.S., is caused by loss of ubiquitin ligase E3A (UBE3A) gene expression in the brain. It leads to severe developmental delay, loss of control of bodily movements, and epilepsy.
Currently, there are no treatments for Angelman syndrome. Segal and his team are researching AAV9-Cas13 gene therapy that will deliver a targetable RNA nuclease (Cas13) to the brain to safely and permanently restore expression of UBE3A deficient in the neurons of the central nervous system.
“This therapy uses a first-of-its-kind mechanism to bring much-needed new treatments that could directly benefit around 2,500 children and families living with Angelman syndrome in California and many more globally,” Segal said.
Segal is a member of the UC Davis Genome Center and a faculty member at the UC Davis MIND Institute. He also holds joint appointments in the Departments of Biochemistry and Molecular Medicine and Pharmacology.