Velo-Cardio-Facial Syndrome Research Institute
July 2002, research may continue under the Harvard Medical School IRB pending
Description of VCFS Research Project:
MOLECULAR ASPECTS OF THE VELO-CARDIO-FACIAL SYNDROME
In the molecular biology laboratories of Dr. Raju Kucherlapati, Dr. Arthur Skoultchi and Dr. Bernice Morrow at The Albert Einstein College of Medicine efforts to examine the molecular basis of a pair of related human genetic disorders: velo-cardio facial (VCFS) and DiGeorge (DGS) syndromes have been conducted for the past six years. Individuals affected by these disorders have several developmental defects including cardiac anomalies and psychiatric phenotypes. The individuals have a characteristic deletion of a part of human chromosome 22 and it is believed that the presence of a single copy of a gene(s) in this region (haploinsufficiency) causes the disorder. We are utilizing a combination of genetic and molecular biological approaches to identify the gene(s) responsible for these disorders. Rosalie Goldberg a genetic counselor at The Albert Einstein College of Medicine will be happy to answer your questions.
Identification of genes for this disorder provides a unique opportunity to understand the molecular basis for the clinical findings of VCFS and DGS and to gain insight into normal human embryonic development. We have constructed a physical and genetic map of 22q11. By genotyping large numbers of VCFS/DGS patients with genetic markers that have been integrated within the physical map, we have been able to define their deletions. We have isolated several genes within the smallest region of deletion overlap, termed the critical region for VCFS/DGS. A major effort in the lab is to determine the pattern of expression of each gene during embryonic/fetal development as well as in adult tissues.
A second goal is to identify the gene(s) that lead to about 30% susceptibility to the psychiatric disorders and 95% learning disabilities in patients. Seventeen percent of patients with the physical characteristics of VCFS/DGS do not have detectable deletions. We are interested in these subjects to look for smaller deletions or mutations.
The contributions of blood samples from families is essential to our effort to find the gene/genes. Each subject is asked to sign an informed consent and to donate 10 ccs of blood.]
March 4, 1998
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