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

Genetic basis of autism  

Dr. Wigler and his colleagues have identified spontaneous, non-inherited copy-number variations — duplications or deletions of chunks of deoxyribonucleic acid (DNA) — as an important risk factor for autism. The researchers are expanding on their previous findings with the goal of identifying more autism-linked mutations and gaining new insights into the heritability of the disorder. The researchers plan to greatly increase their study population, collecting data on copy-number variations from 1,500 families with one affected child (from the Simons Simplex Collection), 800 families with more than one affected child (from the Autism Genetic Resource Exchange (AGRE)), and 1,000 control individuals. From this data, they aim to use comparative genomic hybridization (CGH) to identify spontaneous genetic defects that are linked to autism. They also plan to assess other factors that can influence the risk of autism, such as gender and inherited genetic variations. The researchers plan to compare the genetic data with clinical data to determine whether specific defects tend to cause similar symptoms. They may also use animal models in collaboration with other laboratories to test the effects of the autism-related genetic variations on behavior and neural circuitry. Project Status


Funder Simons Foundation
Fiscal Year Funding $6,380,871.50
Project Number SF51
Principal Investigator Wigler, Michael
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 Cold Spring Harbor Laboratory
State/Country New York
Web Link 1 Genetic basis of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Determining the genetic basis of autism by hi-resolution analysis of copy number | $340,440.00 | 2008 | R01MH076431-04
Determining the genetic basis of autism by high-resolution analysis of copy number | $351,639.00 | 2009 | 5R01MH076431-05
Genetic basis of autism | $6,625,251.00 | 2010 | SF51
Genetic basis of autism | $6,175,430.00 | 2008 | Project number unavailable
Genetic basis of autism | $3,332,094.50 | 2011 | SF51
Genetic basis of autism | $0.00 | 2012 | SF51
Novel models to define the genetic basis of autism | $545,463.00 | 2009 | SF41
Novel models to define the genetic basis of autism | $289,633.00 | 2010 | SF41
Novel models to define the genetic basis of autism | $800,694.00 | 2008 | Project number unavailable
Understanding the genetic basis of autism | $6,557,422.00 | 2012 | 235988