RASopathy Associated Traits California (RasCal) Study

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Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: RASopathy Associated Traits California (RasCal) study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)
  • Purpose: We want to understand why some RASopathy associated features are different among affected people. In order to study this we will collect genetic information on RASopathy subjects and their family members. We will use this information to determine if there is a change at genetic locations other than the disease genes that may interact with a Ras-MAPK pathway mutation to contribute to the different risk that we see among subjects for developmental problems, cancer risk, muscle strength, and other features.

Eligibility

We are looking for families with someone affected by neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, or Noonan syndrome. The affected person, both biological parents and a healthy sibling can participate.

  • Inclusion criteria: neurofibromatosis type 1, Costello syndrome, cardio-facio-cutaneous syndrome, or Noonan syndrome. The affected person as well as both biological parents and a healthy sibling can participate, all ages
  • Exclusion criteria: Non-English speakers

What is Involved?

  • Testing: Saliva samples from all family members participating. Social behavior questionnaires to be filled out about the affected person and optionally for a healthy sibling.
  • Frequency of visits: 1 visit to the UCSF Parnassus campus is optional, we can also collect the saliva and questionnaire data via mail.
  • Materials needed prior to evaluation: None
  • Costs: No costs will be charged for any of the study procedures. Parking will be validated at UCSF.

Contact Information

November 10, 2014