International Meeting on Genetic Syndromes of the Ras/MAPK Pathway

Icahn School Of Medicine At Mount Sinai, New York NY

Investigators

Abstract

DESCRIPTION (provided by applicant): International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Finding Our Way Back to the Bedside will be held on July 22-24, 2011 in Chicago, IL at the Westin O'Hare. The PI and Co-Chair of this research symposium is Bruce D. Gelb, MD from the Mount Sinai School of Medicine. Amy Roberts, MD from Harvard Medical School and Ms. Lisa Schoyer, past-President of the Costello Syndrome Family Network (CSFN) serve as Co-Chairs. This meeting will be held in conjunction with family meetings of the CSFN, CFC International, Noonan Syndrome Support Group, and neurofibromatosis support groups. A class of developmental disorders caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway has emerged. These syndromes, including Noonan, LEOPARD, Costello, cardio-facio-cutaneous and neurofibromatosis , have overlapping phenotypic features including facial dysmorphia, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay and cancer. Germline mutations causing these disorders alter Ras/MAPK pathway proteins. The elaboration of the genetic bases of these syndromes is allowing researchers to explore their pathogeneses. Our ultimate goals are to develop better medical management and establish novel therapies. The overall goal of this symposium is to provide a forum for clinicians, researchers, trainees and affected families to share and discuss basic science and clinical issues in order to set forth a framework for future research, translational applications directed towards therapy and best clinical practices for Ras/MAPK pathway syndromes. Some objectives of the meeting are to 1) meet individuals with Ras/MAPK syndromes and learn of their capacities and challenges, 2) learn how causative mutations alter protein function and how this contributes to disease pathogenesis, 3) inspire clinicians and clinical researchers to consider outcomes-guided, syndrome-specific management, 4) inspire basic science researchers in Ras and related fields to apply their basic science knowledge to the clinical aspects of Ras/MAPK syndromes and 5) continue formal discussion in the application of Ras/MAPK pathway inhibitors as possible systemic therapies. We will achieve these goals through formal presentations on clinical pathways and networks as well as on the molecular pathogeneses of the RASopathies, basic biology of the RAS pathway, animal models, treatment options and a discussion of clinical trials. We will use working groups on the final day to establish clear agendas for future pre-clinical and clinical research consortia. Finally, we will encourage participation of trainees and junior faculty through a Young Investigator Competition and a poster presentation session.