Anya Revah-Politi, MS, CGC

During her eight years at the Institute for Genomic Medicine (IGM), Anya served as Lead Genetic Counselor and project manager for the Diagnostic Sequencing Study of Genetic Disorders, a research exome sequencing study aiming at identifying causative genomic variants in individuals with suspected genetic disease. In this role, she managed a team that enrolled over 1,500 families. Anya's responsibilities included developing an analysis strategy, variant interpretation, moderating result sign-out meetings for presentation of research result findings to healthcare providers, and coordinating confirmation of variants in the CLIA space. Through this work, she drove the team’s gene discovery and publication efforts, and participated in 15 publications describing new gene-disease associations, phenotype expansions, and novel disease mechanisms. Notably, her work on the GNB1 gene variants led to the publication of the GeneReview chapter for GNB1 Encephalopathy, where she served as the first author.

Additionally, Anya made substantial contributions to various other projects at the IGM, including The Genetics of Neurological, Neuropsychiatric and Neurodevelopmental Disorders Project, The Epilepsy Genetics Initiative, and other projects focused on identifying causal genomic variants in stillbirth, cerebral palsy, pregnancy and lactation-associated osteoporosis (PLO) and obsessive-compulsive disorder.

In her current role in the Department of Neurology, Anya is responsible for identifying patients with neurogenetic conditions who have genetic variants that are amenable to potential genetic therapy development. Patients with eligible genotypes and phenotypes can then be recruited into the Precision Neurotherapeutics Program, where Anya and the other members of the Precision Neurotherapeutics team work with therapeutic development partners to create N-of-1 therapies for individual patients.