Autism research in Greenwood recognized
October 7, 2010
Three research studies conducted by the Greenwood Genetic Center and collaborators from across the globe have been published in prominent scientific journals.
The most recent work, a study linking genetic causes to autism spectrum disorder and intellectual disability, was released by Science Translational Medicine, a companion publication to the popular journal Science.
The three research studies led by Charles Schwartz, director of research at GGC, reviewed different facets of the link between intellectual disabilities and the X chromosome.
“These significant findings by Dr. Schwartz and our team of researchers are helping to better understand the causes of intellectual disability and autism,” said Roger E. Stevenson, Director of GGC. “The ultimate goal is to develop treatments and prevent genetic disabilities.”
Intellectual disability or mental retardation occurs in approximately 2% of the population, and the genetic causes are varied. More than 90 genes causing intellectual disability are located on the X chromosome, and the GGC has been directly involved in identifying nearly one third of those.
In the Science Translational Medicine report published Sept. 15, Schwartz and collaborators from Canada, the United Kingdom, Germany, Italy, Ireland, Australia and the United States identified mutations in the PTCHD1 gene in seven families with autism spectrum disorder and three families with intellectual disability. These findings suggest the involvement of this X-linked gene in approximately 1% of patients with autism spectrum disorder and/or intellectual disability.
In the Aug. 13 issue of the American Journal of Human Genetics, GGC researchers and their British and Australian collaborators found that very small duplications or deletions accounted for 10% of families they studied with X-linked intellectual disability. The search for such small duplications and deletions has now become a standard part of the diagnostic evaluation of individuals with these disorders.
Stevenson, Schwartz and Fatima Abidi also published a study in the May 16 issue of Nature Genetics, in collaboration with researchers from Australia, Thailand, the U.K. and the U.S. They identified a mutation in a gene called IQSEC2 on the X chromosome that is responsible for a form of X-linked intellectual disability without other physical or behavioral signs. A mutation in this gene was identified in four families, including the first family to be described with non‐syndromal X‐linked intellectual disability in 1971.
“Our recent studies highlight the critical role that genes on the X chromosome play in intellectual function,” said Schwartz. “We will continue focusing on identifying the responsible genes and collaborating with others to develop new strategies for the prevention of genetic disease and disability.”
The GGC comprises the Department of Medical Genetics at Self Regional Healthcare in Greenwood. Additionally, it’s work is enhanced by its collaboration with the South Carolina Department of Disabilities and Special Needs, which is responsible for providing care for intellectually disabled individuals in South Carolina.
Founded in 1974, the Greenwood Genetic Center is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, a team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.
