RASopathies

A class of developmental syndromes caused by mutations in the genes that encode protein components of the Ras/MAPK signaling pathway. These pathways include some of the following disorders: neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome and Noonan syndrome.

RASopathy Associated Traits California (RasCal) Study

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.

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)
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