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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Genotype to Phenotype Association in Autism Spectrum Disorders

Principal Investigator

Principal Investigator

Robinson, Elise Brooks

Description

Description

Autism spectrum disorders ASDs) are characterized by many differences in their presentation, severity, and comorbidities. ASDs have also been associated with several different types of genetic risk factors. The purpose of this project is to link differences in case presentation to differences in genetic architecture, with the ultimate goal of identifying more homogeneous groups of individuals with ASDs for research and treatment studies. We focus on two types of genetic variation that have been associated with ASDs. First, de novo variants, genetic variants that occur spontaneously and are not seen in an affected individual's parents. Second, inherited genetic risk for schizophrenia, bipolar disorder, and depressive disorders, psychiatric conditions that have been linked to ASDs through genetic or family history analyses. Using the Simons Simplex Collection SSC) data set, we will test whether behavioral and medical traits that are sometimes seen with ASDs predict: a) the rate of de novo variation in ASD cases and b) the role of inherited risk for psychiatric disease, assessed both through family history and directly measured genetic risk. We will also examine whether individuals with de novo mutations in genes that are particularly sensitive to mutation have average differences in case presentation. These analyses will capitalize on the SSC's unique combination of detailed medical and behavioral data, in conjunction with its advanced genetic profiling of its participants and their families. Taken together, the project aims to provide important clarification regarding diversity in ASDs and create a path towards more targeted research and treatment strategies.

Funder

Funder

Brain & Behavior Research Foundation

Fiscal Year Funding

Fiscal Year Funding

30000

Current Award Period

Current Award Period

2015-2017

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

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.

Project Link

Project Link

No link available.

Institution

Institution

Massachusetts General Hospital

State/Country

State/Country

Massachusetts

Project Number

Project Number

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Genotype to Phenotype Association in Autism Spectrum Disorders | 0 | 2014 |

 
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