Analysis of Genetic Variation in Neurodevelopmental Disorders

Principal Investigator: Jonathan Pevsner

We propose to sequence genomic DNA from patients with neurodevelopmental disorders, including autism, to study the nature and extent of genetic variation. To do this, the PI’s laboratory will study genomic DNA samples from two repositories: the Simons Foundation Autism Research Initiative (Sfari) Simplex Collection ( and the Autism Genetic Resource Exchange (AGRE; Each of those two organizations has a policy of distributing DNA to the research community. All samples are deidentified. No participants will be contacted. DNA will be obtained; a set of genes (about 100 to 200) will be sequenced; and the resulting variants will be analyzed. The goal of the studies is to identify DNA variants in patients with neurodevelopmental disorders such as autism. The samples are for research use only. The research team will have no identifiable human subjects data.