The 40th Anniversary of the Discovery of Velo-Cardio-Facial Syndrome
06/30/2016 | 08:31am EDT
MANLIUS, N.Y., June 30, 2016 -- The summer of 2016 marks the 40(th) anniversary of the discovery of velo-cardio-facial syndrome (VCFS) by Robert J. Shprintzen, Ph.D., who in 1976 recognized a shared pattern of anomalies in clinical findings involving a dozen patients. This put America on the map as the global leader in the treatment of this common genetic multiple anomaly syndrome.
VCFS is both the most common genetic disorder causing congenital heart disease, palate abnormalities and the most significant genetic cause of psychosis. Recent data shows it is the most common multiple anomaly syndrome in humans, occurring in one of every 960 pregnancies.
"We made considerable inroads over the past 40 years, discovering its genetics leading to accurate diagnosis and new options for treatment," said Dr. Shprintzen, President and Chairman of the Board at The Virtual Center for Velo-Cardio-Facial Syndrome. "However, the treatment of psychosis associated with VCFS is hampered by expensive off-label drugs not covered by insurance."
The frequency of psychosis in VCFS makes it a target for study among geneticists and psychiatrists isolating candidate genes shown to contribute to the psychosis in VCFS. Medication targeting that gene action is available, but clinical trials have not been done. "It is time to shift research to clinical management of the psychiatric illness in VCFS," adds Dr. Shprintzen.
There are approximately 200,000 people in the United States with VCFS and about 30% of cases are not accurately diagnosed. This impacts their quality of life and will likely affect long-term outcomes.
About The VCVCFS
The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is a non-profit, 501(c)(3) charitable corporation providing global support and advises to VCFS patients, their families, primary care doctors, clinicians and specialists. It is an interdisciplinary program of experts that is independent of any institution, supported solely by donations, that does not charge people who receive their service. The idea is to bring information and advice vital to good care for people with VCFS, but instead of having people travel to a center that may be far from them, we bring our center to them via the Internet and video conferencing.
For Further Information:
Robert J. Shprintzen, Ph.D.