Simons Variation in Individuals Project

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Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: The Simons Foundation
  • Recruiting?: Yes
  • Official study title: Simons Variations in Individuals Project
  • Conditions studied: Genetic mutations likely to be involved in ASD and other neurodevelopmental disorders. Currently we are investigating only copy number variations of 16p11.2.
  • Purpose: The purpose of this project is to characterize the clinical and behavior features associated with specific genetic mutations likely to be involved in ASD or other neurodevelopmental disorders. Currently Simons VIP is focused on 16p11.2 deletions and duplications, the most common genetic disorder associated with ASD. The end goal of our project is to develop science-based solutions and targeted treatments to improve the lives of individuals with genetic and developmental differences.

Eligibility

  • Inclusion criteria:
    • Any individual with a documented 16p11.2 deletion or duplication bound by the following coordinates, chromosome 16: 29.0 Mb to 30.3 Mb
    • Willingness to travel to one of the Simons VIP study sites (i.e.: Boston, Houston, or Seattle) for a 2-3 day clinical evaluation.
    • Minors who have at least one parent who wishes to participate
  • Exclusion criteria:
    • Additional known genetic mutations that have known cognitive or behavioral effects
    • Deletion or duplication of 16p11.2 larger than the 1.3Mb interval
    • Individuals (and/or parents) who do not speak English fluently

What is Involved?

  • Testing: Telephone interview, blood draw (for genetic testing), neurological and physical examination, cognitive testing and questionnaires. Some individuals may be asked to participate in a separate functional imaging study, which will include brain MRI and MEG scans.
  • Frequency of visits: For clinical and structural imaging phase of study, participants travel to study sites for one trip consisting of 2-3 visits (6-8 hours/visit); for functional imaging phase of study, participants will travel to study site for one trip consisting of 2 or 3 visits (2-4 hours/visit)
  • Materials needed prior to evaluation: Documentation (lab report) of 16p11.2 deletion or duplication
  • Costs: There is no cost for participation. All travel expenses will be reimbursed and a food allowance will also be provided.

Contact Information

Enrollment Coordinator and Genetic Counselors: