RASopathies are a group of genetic syndromes that may be as common as 1:1000. The RASopathy syndromes include: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS).
Our mission is to advance research of the RASopathies by bringing together families, clinicians and scientists.
RASopathiesNet is the product of RASopathies Network USA, a 501c3 Non-Profit, and the RASopathies Network UK.
Our goal is to grow a community of practice around RASopathies research. This includes:
- Convening biennial symposia to bring families, clinicians and researchers together
- Developing a discussion forum for professionals to foster collaborative research efforts
- Developing and maintaining family-friendly informational resources, including a bibliography for lay and professional audiences.
- Researching the development and implementation of a family/patient-driven disease registry
In 2010, a year after the first RASopathies symposium (Berkeley, CA), a RASopathies meeting was convened during the American Society of Human Genetics in Hawaii. There, the concept of a network to help maintain focus on the RASopathies was created. Among the first orders of business was to name this group of syndromes. Researchers, clinicians and family advocacy leadership voted to name this group of syndromes the RASopathies.
[~information to come~]