The Center for Genomic and Phenomic Studies in Autism involves the University of Southern California (USC), Autism Genetic Resource Exchange (AGRE), MIND Institute/University of California (UC) – Davis, University of Michigan, Childrens Hospital Los Angeles (CHLA), and E.K. Shriver Center/University of Massachusetts Medical School.
The Center brings together a distinguished multidisciplinary team of investigators with considerable expertise in the genomics and phenomics of autism in multiplex pedigrees, including nationwide family ascertainment and screening, high throughput diagnostics, state-of-the-art clinical evaluation and structural interviewing, cognitive and behavioral evaluations, 3D craniofacial morphology, cytogenetics, DNA microarrays, immunology, structural brain imaging, electrophysiology, and environmental risk assessment.
Our research team has considerable experience in coordinating and widely distributing to the scientific community phenomic and genomic information in autism. We have identified over 1,400 pedigrees with two or more affected children, for which comprehensive clinical data, DNA and cell lines are currently distributed through AGRE and the NIMH Human Genetics Initiative.
The Center utilizes a nationwide ascertainment strategy with a demonstrated record of success and collects state-of-the-art high-throughput phenotypic information and blood from a new ethnically diverse sample of 1,500 multiplex autism pedigrees that are shared with the National Database for Autism Research (NDAR) and the NIMH Human Genetics Initiative. High-throughput phenomics conducted on affected children include state-of-the-art clinical instrumentation and structural interviews to assess behavioral, social, cognitive/intellectual, language/communicative and adaptive functioning. Cytogenetic and baseline environmental risk assessments are also made. Pilot studies in a subset of 625 autistic children in California are conducted to identify robust endophenotypes using state-of-the-art technologies for 3D craniofacial morphology, structural brain imaging, DNA microarrays, immunological assays, auditory evoked potentials and other psychophysiological measures, and air quality assessments.
The ultimate goal of our Center is to facilitate genetic and environmental studies on autism, thereby improving diagnosis, accelerating our understanding of its etiology and pathophysiology, and facilitating discovery of new therapeutics.