Chromosome 16p11.2 Deletion Study

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Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Chromosome 16p11.2 Study
  • Conditions studied: 16p11.2 deletion, a genetic copy number variation strongly associated with autism features
  • Purpose: The goal of this project is to convert skin cells from patients with 16p11.2 deletion into neurons and study the growth of these neurons in the lab to understand potential neurodevelopmental effects of this deletion and how they might be corrected.

Eligibility

  • Inclusion criteria: Individuals with 16p11.2 deletion, their parents and unaffected sibling/s

What is Involved?

  • Testing: We will ask for a skin punch biopsy from the affected individual and ideally an unaffected sibling. We might also ask for a blood sample from both biological parents. Both skin punch biopsies and blood draws will be done at UCSF, Parnassus campus by trained professionals in a clinical research center.
    You will be asked to answer two short questionnaires about your affected son/daughter and his/her healthy sibling. You will also be asked provide a brief family and medical history. You can complete the questionnaires in-person or over the phone with the study coordinator, or by yourself at home at your convenience.
  • Frequency of visits: 1 visit to UCSF Parnassus campus
  • Materials needed prior to evaluation: None
  • Costs: No costs will be charged for any of the study procedures. Parking will be validated at UCSF. Upon complete participation, each family member undergoing a skin punch biopsy will receive $100.

Contact Information

November 10, 2014