Third International Meeting on the Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach
August 2-4, 2013
This year's symposium will again be held in conjunction with bi-annual family meetings for the Costello Syndrome Family Network (CSFN), CFC International, and Noonan Syndrome Community
A class of developmental disorders has been found to be associated with dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway, which, in aggregate, represents one of the largest groups of genetic syndromes This scientific conference will focus on four disorders associated with germline mutations in genes that encode proteins involved in the Ras/MAPK pathway: Noonan syndrome (NS), Costello syndrome (CS), cardio-facio-cutaneous syndrom e (CFC), and neurofibromatosis type 1 (NF1), which share phenotypic features including facial dysmorphia, cardiovascular anomalies, skeletal and cutaneous abnormalities, neurocognitive delays, and risk of malignancy. The ongoing elaboration of the genetic bases of the Ras/MAPK pathway syndromes is allowing basic science researchers and clinicians 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 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. Professionals will also participate in concurrent family advocacy meetings.
The objectives for this timely meeting include:
- To meet individuals with Ras/MAPK pathway syndromes and learn of their capacities and challenges, with a specific focus on desired outcomes of treatments.To understand how normal functioning within the Ras/MAPK pathway affects cellular homeostasis.
- To learn how deleterious mutations in the Ras/MAPK pathway alter protein function and to explore possible opportunities for mutation-specific therapies.
- To stimulate cross-talk between clinicians who provide care for individuals with Ras/MAPK pathway disorders and basic scientists who study this pathway.
- To identify candidate compounds that may be considered for clinical trials in Ras/MAPK pathway disorders.
- To understand infrastructure needs to develop preclinical testing and clinical trials for Ras/MAPK pathway disorders.
- To explore opportunities to collaborate with the NCATS TRND Program and with CTSAs at academic medical centers to further translational research on Ras/MAPK pathway disorders.
- To strengthen the commitment for the advocacy groups to join together for family meetings with research symposia (funded by R13 grants) as an integral part of the semi-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