Participation

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• DCEG flyer for recruitment
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You may be eligible for the NCI RASopathies Study if you are:

• An individual who has a RASopathy syndrome (excluding NF1) – diagnosed by clinical evaluation or from a CLIA-approved genetic test that identifies one of the known mutations.
• A family member who has at least one first-degree relative  (such as a parent, child, or sibling), living or deceased, with a RASopathy syndrome. A family member can also submit information on behalf of a deceased family member who had a RASopathy syndrome, if they are the next-of-in or proxy of the individual.

Other extended family members may also be able to participate after appropriate genetic testing.

What is involved in the study?

All participants will provide medical and family history that will be reviewed by the study team. Selected participants may be invited to come to the National Institutes of Health (NIH) Clinical Center in Bethesda, Maryland, to obtain a complete health history interview, physical examination, and screening tests. All travel-related costs such as transportation, meals, and lodging will be covered by the study team and there is no charge for any of the medical visits or tests.

Selected participants will spend one week at the NIH to meet  with the research team. During the visit they will:

• Undergo a complete health history and undergo physical examination, blood tests, and imaging studies.
• Undergo specialist evaluations, which may include cardiology, endocrinology, oncology, and genetics.
• Be evaluated for RASopathy-related complications.
• Have the opportunity to meet with a genetic counselor.

Participants will receive a written summary of their evaluation and tests results from their visit at NIH.

About the National Institutes of Health and National Cancer Institute

The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the nation’s medical research agency that aims to make important discoveries that improve health and save lives. The NIH is made up of 27 different organizations called Institutes and Centers. Each has its own specific research agenda, usually focusing on particular diseases or body systems.

The National Cancer Institute (NCI) leads, conducts, and supports cancer research and training across the nation to advance scientific knowledge and help all people live longer, healthier lives.