Toronto - October 29, 2001: Canadian Genetic Diseases Network scientists, Dr. Lap-Chee Tsui and Dr. Stephen Scherer at The Hospital for Sick Children and the University of Toronto are senior authors on new research that identifies a genetic basis for Williams-Beuren Syndrome (WBS) and points to a new genetic mechanism for disease. The work is published as a research letter in the November issue of the prestigious scientific journal Nature Genetics.

WBS is a genetic condition (estimated to occur in one in 20,000 people worldwide) with abnormalities that include congenital vascular and heart disease, growth deficiency, mental retardation, unique cognitive profile, and a characteristic personality. The research supports the theory that the DNA in the genome of any two individuals is 99.9% identical in content; however, this new discovery suggests that in some cases, the flipping of words or sentences within each individual’s genetic dictionary (or genome) can contribute to his or her unique characteristics, and also influences offspring. In this case, an inversion on chromosome 7 is involved in WBS.

Said Dr. Scherer, “It is possible that the phenomena of chromosome imbalances may also be found in other neuropsychiatric conditions such as autism and schizophrenia, or perhaps even in some behavioral traits that all of us have.”

Dr. Lucy Osborne, lead author on the paper and an assistant professor in the Departments of Medicine and Molecular and Medical Genetics at the University of Toronto, said “Our findings have large implications for the diagnosis of this disorder and corresponding genetic counseling.”