Mission and History

RASopathies are a group of genetic syndromes that may be as common as 1:1000. The syndromes RASopathies Network focuses on include: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS).

Our mission is to advance research to improve the quality of life for RASopathies families 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:

  • Ensuring all diverse stakeholders are represented, heard and included
  • Raising Awareness of the RASopathies
  • Connecting and fostering collaboration among those affected and those researching and treating RASopathies through such mechanisms as:
    • Convening biennial symposia to bring families, clinicians and researchers together
    • Developing a discussion forum for professionals to foster collaborative research efforts
    • Providing user-friendly information resource to support families diagnosed with a RASopathy
    • Maintaining a contact disease registry to facilitate natural history studies, to share information and research on these RASopathies
  • Fundraising for research to benefit RASopathies syndromes

History

In 2009, the leadership of the Costello Syndrome Family Network (CSFN), CFC International and the Noonan Syndrome Support Group (no longer extant) asked Lisa Schoyer to build a parent-led nonprofit to interface between the family organizations and researchers.

Researchers also pointed out that, due to their need to chase funds, staying focused on the RASopathies would be hard to do without a unifying effort. This request came during an ad hoc meeting at the 2009 American Society of the Human Genetics (ASHG) meeting.  At the meeting, clinical researchers, molecular researchers and family leaders also voted to name the syndromes “RASopathies”, a term that would hopefully guide professionals to look at the whole person in front of them by focusing on the molecular rather than by a group of individual medical specialties. This gave Lisa the name under which to incorporate and apply for non-profit status.

In the same year, Katherine A. (Kate) Rauen, MD, PhD, and Lisa Schoyer went on to chair and co-chair, respectively, the First International RASopathies Symposium in Berkeley, CA.

In 2010, RASopathies Network was incorporated.