Genetic Contributions to ASD Study

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Who we are

We are a group of doctors and scientists from the Program in Genomics, Division of Developmental Medicine, Division of Genetics and Department of Neurology at Boston Children's Hospital. We are working towards gaining a better understanding of autism spectrum disorders (ASD).

Currently, we do not know exactly what causes children to develop an autism spectrum disorder. Previous research suggests that there are both genetic and environmental factors which play a role in the development of this condition.

We hope that information gained from this study will lead to a better understanding of this condition as well as new ways of diagnosing and treating ASD.

Study eligibility

To take part in this study, you must be:

  • 18 months of age or older
  • a child or adult with a diagnosis of autism, pervasive developmental disorder or Asperger’s syndrome
  • a family member of a person with ASD

About participation

Your involvement would include:

  • Providing medical and family history information
  • Giving us a small sample of blood or saliva to use for genetic studies

About enrollment

  • No cost to participate
  • No travel required

Participation options:

  • From home
  • Through your doctor
  • At Children’s Hospital Boston for a research visit


Contact us at 617-355-9152 or toll-free at 866-982-5827.

About study results

We are comparing different families’ samples and medical information to learn how genetic and environmental factors may play a role in ASD.

As this is a research study, individual results will not be reported to families. 

Families are welcome to call us at any time to inquire about the overall progress of this research.


  • All the information you tell us is confidential.
  • Your involvement and any study results will not be part of your medical record.
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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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