VCFS patients who meet the requirements and want to participate in the study can register at email for further information. While some of the study participants will come from a pool of cases currently registered at the Virtual Center, more may be needed: the study is open to interested parties diagnosed with VCFS who live in the 48 U.S. Phlebotomists will visit the participants to draw the blood in the comfort of their homes or location of their choice. In addition, the researchers will ask an unaffected first-degree family member of the donor (either same-sex sibling or same-sex parent) to contribute a blood sample to serve as a control subject. Ultimately, their intent is to develop effective treatments for people at high genetic risk for developing psychiatric illness.Ī total of 50 participants with VCFS who are genetically confirmed to have a 22q11.2 deletion and are diagnosed with a psychotic disorder will be asked to provide a small blood sample for this study.
The researchers hope to learn more about how psychosis develops, how better treatments might be identified for this condition, and why people with VCFS develop mental illness at such a high rate. About one-third of people with VCFS develop psychosis and 1-2% of all patients with schizophrenia have a 22q11.2 microdeletion. It is the most common genetic multiple congenital anomaly syndrome and the most common genetic cause of psychosis. VCFS, also known as DiGeorge syndrome, Shprintzen syndrome, and 22q11.2 Deletion Syndrome, is caused by a deletion of DNA from one copy of a specific region of chromosome 22 containing more than two dozen genes. Shprintzen and he was the first to report that psychosis is a common clinical feature of the syndrome.
The Center for Precision Neuropsychiatry, founded by Sander Markx, M.D., and based in the Department of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons, is collaborating in this research with the Virtual Center for Velo-Cardio-Facial Syndrome, founded by Robert J. Shprintzen, Ph.D., President and Chairman of the Board at the Virtual Center for Velo-Cardio-Facial Syndrome Pictured left to right: Sander Markx, M.D., Assistant Professor of Psychiatry at Columbia University Medical Center, and Robert J.
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