This NIH sponsored symposium-- Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back -- is chaired by Katherine A. Rauen, MD, PhD of the University of California San Francisco and by Lisa Schoyer, BA, MFA of the Costello Syndrome Family Network (CSFN). NIH funding institutions include National Institute of Child Health and Human Development (NICHD) and the Office of Rare Diseases Research (ORDR).
In an unprecedented forum, 6 advocacy groups will come together in conjunction with the research symposium and hold their annual family conference; these groups include the Costello Syndrome Family Network, the International Costello Syndrome Support Group, CFC International, the Noonan Syndrome Support Group, and the neurofibromatosis support groups, NF Inc. and the Children's Tumor Foundation.
A class of developmental disorders has emerged caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. Together, these disorders represent one of the largest groups of inherited genetic syndromes. The focus of this scientific conference will be on four syndromes of the pathway, Noonan syndrome (NS), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC) and neurofibromatosis 1 (NF1) which share phenotypic features including distinctive facial dysmorphia, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay and cancer.
The germline mutations associated with these disorders alter genes that encode proteins of the Ras/MAPK pathway. Recent molecular advances for these syndromes including gene discoveries that cause CS, NS and CFC have established the direction for clinical research and future therapeutic options for this population of patients. A solid foundation for the study of the genetic bases of the Ras/MAPK pathway 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.
Aims of Symposium
The overall goal of this symposium is to provide an open forum for researchers, clinicians, physician-scientists, trainees and affected persons/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 Ras/MAPK pathway syndromes.
In the past, a handful of professionals attended advocacy family meetings with some giving formal lectures to the families, but there has not been a dedicated forum for the formal presentation of basic science or clinical research, with goals of sharing current on-going research and for the development of further collaboration.
The objectives for this timely and topical meeting include:
- To meet individuals with Ras/MAPK pathway syndromes and learn of their capacities.
- To understand how normal functioning within the Ras/MAPK pathway affects cellular homeostasis.
- To learn how causative mutations in the Ras/MAPK pathway alter protein function and how this alteration may contribute to the pathogenesis of these syndromes.
- To inspire clinicians and clinical researchers to consider syndrome specific management of clinical issues.
- To inspire basic science researchers studying the Ras/MAPK pathway and related fields to apply their basic science knowledge to the clinical aspects of these syndromes.
- To understand the current state of Ras/MAPK pathway inhibitors.
- To begin a formal discussion in the application of Ras pathway inhibitors as possible systemic therapy for individuals with these syndromes, bringing together both academicians and private industry.
- To inspire discussion of other possible therapeutic modalities.
- To work towards possible clinical trials for NS, CS and CFC.
- To inaugurate a commitment for the advocacy groups, CSFN, CFC International, NSSG, NF Inc. and CTF to join together for family meetings with research symposia (funded by R13 grants) as an integral part to the bi-annual family conferences.
- To publish the meeting information comprising current clinical and basic science research related to Ras/MAPK pathway syndromes in both the scientific and lay public venues.
A promotional flyer [ PDF ] is available for distribution.