Five institutes at the National Institutes of Health (NIH) and three private autism organizations have formed a consortium to pursue their common goal of understanding a devastating disorder. This public-private partnership has funded five grants – including one to Cold Spring Harbor Laboratory – to identify genes that may contribute to the development of autism and Autism Spectrum Disorders. The National Institute of Mental Health will administer the $10.8 million over the next five years.
At Cold Spring Harbor Laboratory, Dr. Jonathan Sebat’s project entitled, “Determining the Genetic Basis of Autism by High-Resolution Analysis of Copy Number,” will capitalize on the recent discovery of the existence and extent of the high variability of the human genome. Dr. Sebat will examine gene sequence data in order to identify genes and other genomic elements that have either been deleted (micro deletions) or repeated (some many times over). These extensive gene alterations may contribute to the range of Autism Spectrum Disorders.
Autism is a neurodevelopmental disorder that causes severe and pervasive impairment in thinking, feeling, language, and the ability to relate to others. In an average year, one to six new cases of autism arise per 1,000 children. Experts believe that as high as 90 percent of the variance in the disorder is due to hereditary factors, and research suggests a strong interaction between environmental factors and multiple unknown genes. As researchers gain a better understanding of the genes responsible for autism, they may be better able to distinguish between the different variants of the disorder and to develop targeted therapies and interventions to treat them.
The other grants were awarded to researchers at Rutgers University, the University of Medicine and Dentistry of New Jersey, the Robert Wood Johnson Medical School, the University of Iowa, and Emory University. The participating NIH institutes are The National Institute of Child Health and Human Development (NICHD), The National Institute on Deafness and Other Communication Disorders (NIDCD), The National Institute of Environmental Health Sciences (NIEHS), The National Institute of Mental Health (NIMH), and The National Institute of Neurological Disorders and Stroke (NINDS). The voluntary organizations contributing funds are Cure Autism Now (CAN), National Alliance for Autism Research (NAAR), and the Southwest Autism Research & Resource Center (SARRC). For more information, visit www.nimh.nih.gov.
Cold Spring Harbor Laboratory is a private, non-profit basic research institution. Under the leadership of Dr. Bruce Stillman, a member of the National Academy of Sciences and a Fellow of the Royal Society (London), more than 330 scientists at the Laboratory conduct groundbreaking research in cancer, neurobiology, plant genetics, and bioinformatics. Cold Spring Harbor Laboratory is one of eight National Cancer Institute-designated basic research centers in the U.S. and the only such center in the tri-state area.
For more information, visit www.cshl.edu.