The Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach will be held August 2-4, 2013 in Orlando, FL at the Renaissance Orlando at Seaworld. The PI of this research symposium is Bruce R. Korf, MD, PhD from University of Alabama at Birmingham;the co-chair is Alcino Silva, PhD, from UCLA. Lisa Schoyer, MFA is in charge of logistical arrangements for the meeting. This meeting will be held in conjunction with family forums of the CSFN, CFC International, Noonan Syndrome Support Group, and neurofibromatosis support groups. A group of developmental disorders is caused by dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. These syndromes, including Noonan, Noonan with multiple lentigines, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, have overlapping phenotypic features including facial dysmorphia, cardiovascular anomalies, musculoskeletal and cutaneous abnormalities, neurocognitive delay and cancer. Germ line mutations causing these disorders alter Ras/MAPK pathway proteins. 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) to meet individuals with Ras/MAPK syndromes and learn of their capacities and challenges;2) to learn how deleterious mutations in the Ras/MAPK pathway alter protein function and to explore possible opportunities for mutation-specific therapies, 3) to inspire clinicians and clinical researchers to consider outcomes-guided, syndrome-specific management;4) to 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) to 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 features of the RASopathies, basic biology of the RAS/MAPK pathway, animal models, treatment options, and clinical trials. We will also explore possible relationships with the NCATS TRND program and with CTSAs. On the final day, scientists and clinicians will meet with patient advocacy groups to discuss findings reported at the meeting. We will encourage participation of trainees and junior faculty through a Young Investigator platform session and a poster presentation session and provide travel funds for up two young investigators.
This grant application requests support for the scientific meeting entitled, International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Finding Our Way Back to the Bedside. This symposium will focus on recent molecular and clinical advances of Noonan, LEOPARD, Costello, and cardio-facio-cutaneous syndromes. The overall goal is to provide an open forum for clinicians, researchers, 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.