Identifying Sequence Variants Related to the Core Behavioral Domains of Autism

Rutgers University

Project Description

Using clinical data and DNA from families from NJ, this project will search for specific genetic changes that increase risk for autism spectrum disorders.

Autism has been described as causing symptoms in three main areas: language impairments, social impairments, and rigid or repetitive behaviors. Symptoms in each of these areas appear to come from different genetic influences, and it is common to find relatives of people with autism who may have some difficulties with one or another of these areas. Since the overall genetics of autism are very complex, we have chosen a strategy that focuses on the genetics of the individual symptom components as a way to increase our power to find genes related to autism. We have previously recruited a set of families from New Jersey who have an individual with autism and at least one other family member who has a history of language learning difficulties. We conducted extensive language and behavioral testing on all family members as part of our study and also collected blood samples that were used to extract genetic material, or DNA.

Using the testing data and genetic data we obtained from the DNA, we were able to identify five locations in the DNA where genes contributing to autism risk are located. We are already working to identify the specific genes that are responsible for the language difficulties in our study families. However, our study also identified two locations related to social impairments and one location related to rigid or repetitive behaviors in our families. The goal of this project is to identify the specific changes in the genes that are responsible for the difficulties in these areas in our study families. We are also very interested in understanding how these different genetic changes can interact to produce different specific symptoms in different people. Identifying these changes and understanding how they interact will help us understand what causes autism and may provide ideas for the development of new treatments responsible for the difficulties in these areas in our study families. We will do this by examine the DNA in these locations more carefully through DNA sequencing.

We are also very interested in understanding how these different genetic changes can interact to produce different specific symptoms in different people. Identifying these changes and understanding how they interact will help us understand what causes autism and may provide ideas for the development of new treatments.


Selection Criteria

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No Recruitment resources
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Team Members

Linda Brzustowicz
Principal Investigator
brzustowicz@biology.rutgers.edu

Judy Flax
Co-Investigator
flax@dls.rutgers.edu
(848) 445-1224

Contact Info

brzustowicz@biology.rutgers.edu
(848) 445-3331
145 Bevier Road
Piscataway, NJ 08854

Links