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Landmark Study Seeks Participants with VCFS-Related Psychosis to Help Create Biobank of Human Neural Tissue to Develop Innovative Treatments

The Virtual Center for Velo-Cardio-Facial Syndrome collaborates with the Center for Precision Neuropsychiatry based in the Department of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons.

MANLIUS, N.Y. (OCTOBER 23, 2019) -- A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called ‘cerebral organoids’. Given that current medications used to treat VCFS- related psychosis are largely ineffective, researchers hope to discover novel and effective treatments for this condition by studying these cerebral organoids.


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. VCFS was first described in 1978 by Dr. Shprintzen and he was the first to report that psychosis is a common clinical feature of the syndrome.


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. It is the most common genetic multiple congenital anomaly syndrome and the most common genetic cause of psychosis. About one third of people with VCFS develop psychosis and 1-2% of all patients with schizophrenia have a 22q11.2 microdeletion.


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. Ultimately, their intent is to develop effective treatments for people at high genetic risk for developing psychiatric illness.


A 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. 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. Phlebotomists will visit the participants to draw the blood in the comfort of their homes or location of their choice.

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. contiguous states. VCFS patients who meet the requirements and want to participate in the study can register at or email  for further information.


Sander Markx, M.D., Assistant Professor of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons and Principal Investigator, has a long-standing interest in VCFS. “We need to reach a better understanding of what goes on in the developing brain that ultimately gives rise to the increased risk for psychosis in patients with this genetic condition,” he states. “Improved understanding will help us develop novel, more efficacious medications that target specific disease mechanisms so we can achieve better clinical outcomes with fewer side effects for our patients. We hope that our process will guide future treatment for mental and cognitive disorders and ultimately reveal basic biology of debilitating disorders, such as schizophrenia and autism.”


As Robert J. Shprintzen, Ph.D., President and Chairman of the Board at the Virtual Center for VCFS, observes, “This study is of significant importance for sufferers of VCFS all over the world. Although VCFS is the most common genetic cause of psychosis, and the genetic mutation that causes VCFS has been known for more than 25 years, so far treatments for these problems have largely been ineffective. We expect that our collaborative research with eminent colleagues at one of the most highly regarded psychiatric facilities in the world will translate to more effective patient care.”




Additional information about the blood draw

The blood sample from the subject and his/her relative will be used to develop iPSCs and organoids to better understand VCFS biology and responses to medications. For each case, it will be determined whether he/she suffers from a psychotic condition. Following this initial study, the team plans to run clinical trials of medications that show promise in the organoid response.


The study will use induced pluripotent stem cells (iPSCs) obtained from donor blood. White blood cells are reprogrammed to become stem cells, and those stem cells are grown into cerebral organoids, which will be exposed to drug libraries to determine how the brain tissue responds. This type of research, called translational research, yields results that could ultimately help lead to the identification and development of new treatments for this debilitating condition.




About The Virtual Center for Velo-Cardio-Facial Syndrome, Inc

The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is an open-access 501(c)3, internet-based charitable organization that provides personalized information to people whose lives have been touched by VCFS and who are seeking applicable research and clinical expertise regarding the management of the syndrome. There is no charge for this service, which is funded by voluntary donations.


About Velo-Cardio-Facial Syndrome

Velo-Cardio-Facial syndrome (VCFS) is the most common genetic multiple congenital anomaly disorder in humans. It is caused by a microdeletion of DNA from chromosome 22, typically encompassing approximately 40 genes. It is known by a number of other names, including DiGeorge syndrome, conotruncal anomalies face syndrome, Sedlačková syndrome, and more recently, 22q11.2 Deletion Syndrome. Approximately 200 distinct congenital anomalies and disorders are associated with VCFS. Recent data has shown that more than 1 in every 1000 pregnancies have the deletion from chromosome 22 that causes VCFS. Because so many problems can occur in people with VCFS, it is difficult to have all of the specialists with special knowledge of the syndrome needed for required diagnosis and management together in one location. The Virtual Center allows experts to spread knowledge and information pertinent to individual cases anywhere in the world, thereby sharing expertise and educating local practitioners at the same time.


Press contacts:

The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

Robert J. Shprintzen, Ph.D.


Tel: 315-559-4685



Fortress Strategic Communications for The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

Evan Bloom, CEO

Tel: 315-744-4912



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