This grant application requests support for an international symposium entitled, """"""""Cardiofaciocutaneous Syndrome and Noonan Syndrome Scientific Meeting 2005"""""""". The meeting will be held April 2006, Basking Ridge, NJ. The meeting is co-directed by Amy Roberts, M.D. of Harvard Medical School and Bruce Gelb, M.D. of Mount Sinai Medical School. Organizational assistance will be provided by the presidents of two nonprofit foundations that support families, educate the public and medical professionals, and facilitate research on two rare genetic disorders, Cardiofaciocutaneous (CFC) syndrome and Noonan syndrome. These two diagnoses have cardiovascular features in common including valvar pulmonary stenosis and hypertrophic cardiomyopathy. Particular facial features and developmental issues distinguish the two but the diagnoses are frequently confused. Great advances have been made in the understanding of the molecular genetics of Noonan syndrome. Significant progress still needs to be made to better understand the connection between the molecular genetic advances and the pathogenesis of the disorder, particularly the cardiovascular manifestations. The molecular defect responsible for CFC syndrome is not known. This meeting will review progress in genetics, cellular and molecular biology, and hematologic problems in Noonan syndrome, and the diagnosis and natural history of the cardiovascular manifestations of both disorders. The overall goal of the meeting is to provide a forum for investigators to discuss relevant advances in protein tyrosine phosphorylase biology with regard to cardiovascular development and myeloproliferative disorders and for clinically oriented researchers, CFC International, and TNSSG to jointly plan for future research and translational applications. The participants are expected to represent a broad spectrum of individuals with varying expertise including practicing clinicians, physician-scientists, basic science investigators, and lay leaders, all of whom share an interest in CFC and Noonan syndrome.
The specific aim of the meeting is to provide a forum for exchange of ideas between the basic and clinical sciences that is essential for timely, relevant translational research. Broad based clinical and research presentations will guide researchers to the most important clinical questions and will guide clinicians to set best practice standards for data collection and clinical care. Special attention will be paid to the involvement of young investigators, trainees, and scientists and clinicians from underrepresented communities. Cardiovascular malformations represent the largest group of infant deaths caused by birth defect. The proposed efforts are expected to provide a window into the questions that must be answered to better understand the pathogenesis of cardiovascular and myeloproliferative disorders.
