Velocardiofacial Syndrome (VCFS) Research Study
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Velocardiofacial syndrome (VCFS) and the Brain
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Small deletion syndromes are caused by the loss of a stretch of genes from one of the two chromosomes they are located on during germ cell development. They offer a unique opportunity to study how relatively pronounced changes in the effects of relatively few genes lead to disturbances in brain function.
The most common such condition, Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems. It is caused by the absence of a number of genes on chromosome 22.
We are recruiting participants with 22q11.2 syndrome to come to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures.
To find out if you qualify or for more information, please call (301) 496-5645 or email at nimhcore@mail.nih.gov.
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