P436: Bridging the knowledge gap: Implementation and early performance of "Gene", an AI-powered assistant curated for the Angelman syndrome community
Abstract
Angelman syndrome (AS) is a neurogenetic disorder caused by an absence or reduction of functional UBE3A protein in the brain, commonly resulting in developmental and intellectual disabilities, limited or absent speech, seizures, and ataxia. Because the UBE3A gene is imprinted and only maternally expressed in neurons, the genetic mechanisms of AS are complex. The therapeutic landscape in AS is rapidly advancing with multiple potential treatment modalities in clinical trials.
Fields of Study & Subjects
Genetic Syndromes and Imprinting
Artificial Intelligence in Healthcare and Education
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103928–103928
- Publication date
- 1 January 2026
- Language
- EN