Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Genomic hotspots of autism  

Evan Eichler and his colleagues have found that specific regions of the genome are more prone to genetic alterations — both spontaneous and inherited — than other areas, and that these changes are associated with a wide range of diseases, including autism. Eichler and his team are targeting approximately 1,000 regions of the human genome, termed "genomic hotspots" — fragile stretches of deoxyribonucleic acid (DNA) that they suspect are predisposed to deletions or duplications because they are susceptible to breakage. Data for the initial analyses will be drawn from the Simons Foundation Autism Research Initiative (SFARI) Simplex Collection. Hotspots with promising links to autism will then be tested in a larger group of children with and without the disorder to confirm that these events are truly disease causing, and to determine whether they also contribute to inherited forms of autism. Researchers will also collect and analyze samples from an additional 1,000 families with more broadly-defined autism spectrum disorders and developmental delay. The researchers hope to ascertain whether specific features of the disorders — such as developmental defects and behavioral problems — are associated with particular mutation events. Project Status


Funder Simons Foundation
Fiscal Year Funding $232,692.00
Project Number 137578
Principal Investigator Eichler, Evan
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution University of Washington
State/Country Washington
Web Link 1 Genomic hotspots of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genomic hotspots of autism | $588,027.00 | 2010 | 137578
Genomic hotspots of autism | $616,367.50 | 2011 | 137578
Genomic hotspots of autism | $261,032.50 | 2012 | 137578