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

Rapid characterization of balanced genomic rearrangements contributing to autism  

This is an individual National Research Service Award for post-doctoral research training, which provides support for promising Fellowship Applicants with the potential to become productive, independent investigators in scientific health-related research fields. The heritability of autism and related neurodevelopmental disorders is high, but contributing genetic risk factors remain uncertain. The true incidence of genomic rearrangements in these patient groups could be substantially underestimated due to technological limitations. Novel methods for rapid screening, including advanced sequencing techniques, are therefore needed. These studies could facilitate new diagnostic classifications that account for individual genomic events, explain a meaningful proportion of disease variance that is currently unknown, and help elucidate causative pathways. Project Status


Funder National Institutes of Health
Fiscal Year Funding $49,343.00
Project Number 1F32MH087123-01
Principal Investigator Talkowski, Michael
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.
Federal or Private? Federal
Institution Massachusetts General Hospital
State/Country Massachusetts
Web Link 1 Rapid characterization of balanced genomic rearrangements contributing to autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A