4th International RASopathies Symposium - ¿
DESCRIPTION (provided by applicant): The 4th International RASopathies Symposium will be held July 17-19, 2015 at the Seattle Doubletree Airport Hotel, chaired by David Stevenson, MD from the University of Utah and Brigitte Widemann, MD from the National Cancer Institute. This meeting will be held in conjunction with family meetings of the CSFN, CFC International, Noonan Syndrome Foundation, and neurofibromatosis support groups (CTF and NF Network). The logistical arrangements and overall management will be overseen by leaders of the RASopathy Network, with oversight by Lisa Schoyer, MFA (PI) and Lisa Schill (co-investigator). The RAS/MAPK pathway is an important biologic pathway with broad developmental impact. Alterations of this transduction pathway result in changes in proliferation and differentiation of multiple cell types. The pathway is critical for cancer biology as somatic pathway mutations are observed in approximately 30% of malignancies. Over recent years there has been a dramatic increase in identification of germline mutations in genes within the RAS/MAPK pathway that can cause developmental disorders that are now known as RASopathies. The RASopathies represent one of the largest groups of genetic syndromes (prevalence ~1/1000). These syndromes include neurofibromatosis type 1 (NF1), Noonan, Noonan syndrome with multiple lentigines (i.e. LEOPARD), Costello, cardio-facio-cutaneous (CFC), and Legius syndromes. These syndromes have varying overlapping phenotypic features including cancer, facial dysmorphia, neurocognitive impairment, pain, and cardiovascular, musculoskeletal, gastrointestinal, and cutaneous abnormalities. Elaboration of the genetic bases of these syndromes is allowing researchers to explore their pathogeneses with hope for translation of information across syndromes and to the general population - given the broad impact of this pathway. This symposium will provide a forum for clinicians, researchers, trainees and affected families to share and discuss basic science and clinical issues to set forth a framework for future
research, translational applications directed towards therapy, and best clinical practices for Ras/MAPK pathway syndromes. Our goals are to develop better medical management and novel therapies, and the proposed 3 day symposium will help us achieve our goals and objectives. The meeting is unique because it will be held in conjunction with family advocacy meetings for RASopathy family/patient support groups (e.g. Costello Syndrome Family Network, CFC International, NF Network, Children's Tumor Foundation, Noonan Syndrome Foundation. Integration of scientists, families, and pharmaceutical companies is explicit in the program agenda. Family members and affected individuals will be able to meet scientists and provide a more open line of communication.
