International Symposium Cardiofaciocutaneous Syndrome and Noonan Syndrome
Scientific Meeting 2006
Bolger Center, Potomac, Maryland
Evening of November 17 through noon on November 19, 2006
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 and CFC syndrome in the
last few years. Significant progress still needs to be made to better understand the connection
between the molecular genetic advances and the pathogenesis of the disorders, particularly the
cardiovascular manifestations.
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 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.
If you have questions please contact Rebecca Rehm: rrehm@partners.org or 617-525-4566
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