Skin Cell to Stem Cell RasCal Study


Study Director: Lauren A. Weiss, PhD

Sponsor: NIH

Recruiting?: Yes

Official study title: Skin cell to stem cell 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: The study will be looking at the effects of subject genetic changes on different types of cells that we can study in the laboratory, all from a small skin sample. We believe that this study will expand our knowledge about RASopathies and hope this knowledge could be used to develop new and better treatments in the future.


We are looking for families with someone affected by neurofibromatosis type 1, Costello syndrome, cardio-facio-cutaneous syndrome or Noonan syndrome. The affected person 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

What is Involved?

Testing: The sample will be obtained by a procedure called skin punch biopsy in which numbing medicine is injected under the skin on the surface of the forearm. Then, a 3 or 4 mm biopsy is obtained. It is a simple, safe procedure causing little discomfort to the subject and only a small scar. We will also ask a parent or caregiver to answer brief social behavior and medical history questionnaires.

Frequency of visits: 1 visit to the UCSF Parnassus campus is essential

Materials needed prior to evaluation: None

Costs: No costs will be charged for any of the study procedures. To compensate for the time and effort in helping others, each participant will be paid $100 for completed participation (providing the skin punch biopsy sample and completion of all age appropriate testing and questionnaires). Your transportation to San Francisco and UCSF will also be paid.

Contact Information

Coordinator: Dina Bseiso – [email protected], (415) 476-6988