Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes.

摘要

Autism is an extremely common and heterogeneous neurodevelopmental disorder. While genetic factors are known to play a critical role in the etiologies of autism, the underlying genes and mechanisms remain unknown in approximately 70-75% of cases. Advances in technology and our understanding of the causes of autism are occurring at a rapid pace, affecting standards for clinical patient care. The purpose of the central Ohio registry for autism (CORA) is to develop a comprehensive autism registry for genetic and other studies for military and civilian families in central Ohio. Congressionally- supported funding for the project was secured, beginning in late 2009 (total $2.77 million, September 30, 2009-December 31, 2012). The specific aims of the project are to support (1) development of the CORA registry; (2) expansion of diagnostic and treatment services for WPAFB families through a collaboration with Dayton Children's Medical Center (DCMC); (3) molecular studies to identify novel autism susceptibility genes; and (4) cost and satisfaction analyses for the military services components in Aim 2.