Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

University Of California, San Francisco, San Francisco CA

Investigators

Linked publications & trials

Abstract

DESCRIPTION (provided by applicant): Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back, will be held on August 1-2, 2009 in Berkeley, CA at the Doubletree Hotel and Executive Meeting Center at the Berkeley Marina. The principal investigator and chair of this research symposium is Dr. Katherine A. Rauen, M.D., Ph.D., from the University of California, San Francisco. Ms. Elizabeth Schoyer, past-President of the Costello Syndrome Family Network (CSFN) serves as Co- Chair. This meeting will be held in conjunction with the biannual family meetings of the CSFN, CFC International, Noonan Syndrome Support Group, and the neurofibromatosis support groups. A class of developmental disorders caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway has emerged. Four of these syndromes, including Noonan, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, all have overlapping phenotypic features characterized by distinctive facial features, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay, and cancer. The germline mutations associated with these disorders are in genes that encode proteins of the Ras/MAPK pathway. For the first time, a solid foundation for the study of these genetic syndromes will allow basic science researchers and clinicians to begin to understand their pathogenesis. This, in turn, will lead to better medical management and possible therapy. The overall goal of this symposium is to provide an open forum for researchers, clinicians and physician-scientists, trainees and families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed towards therapy and best practices for individuals with these syndromes. Formalization of basic science and clinical research through this symposium will also provide insight into the cause and progression of cancer, as well as the understanding of how this critical signal transduction pathway is involved in the regulation of normal human development. Some basic objectives of the meeting are 1) meet individuals with Ras/MAPK syndromes and learn of their capacities, 2) learn how causative mutations alter protein function and how this alteration may contribute to the pathogenesis, 3) inspire clinicians and clinical researchers to consider syndrome specific management of clinical issues, 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 therapy for individuals. PUBLIC HEALTH RELEVANCE: This application requests support for the scientific meeting entitled, "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back". This symposium will focus on recent molecular and clinical advances of Noonan, Costello, neurofibromatosis 1, and cardio-facio-cutaneous syndromes. The overall goal is to provide an open forum for researchers, clinicians, physician-scientists, trainees, and affected families to share and discuss basic science, clinical knowledge and patient issues setting forth a solid framework for future research, translational applications directed towards therapy, and best practices for individuals with these syndromes.