VCU EXPERT ALERT: National Down Syndrome Awareness Month – Oct. 1-31

By Sathya Achia Abraham

Virginia Commonwealth University has an expert available for comment regarding mosaic Down syndrome, a less common form of the chromosomal disorder.

Colleen Jackson-Cook, Ph.D, a professor in the Department of Pathology and Human Genetics at the VCU School of Medicine, and leading researcher of mosaic Down syndrome (MDS), is available to discuss topics ranging from MDS research to adult care issues such as the need for housing opportunities and lack of facilities; job opportunities for individuals with Down syndrome; and the importance of family support.

For more than 17 years, Jackson-Cook, who is the director of the VCU Cytogenetics Laboratories, has investigated MDS, and more recently, the link between chromosome changes and aging. She has established an international registry of individuals with MDS and currently heads the largest international study of its kind. Jackson-Cook was among the key organizers of the 2007 International Mosaic Down Syndrome Association conference held in Richmond last spring.

In the United States, Down syndrome, which occurs when an individual has three, instead of two copies of chromosome 21, affects one in 800 newborns. As a result of the additional genetic material, individuals with Down syndrome experience developmental difficulties. MDS affects 2 percent to 4 percent of all people who have Down syndrome.

Understanding chromosomal sorting can help researchers gain insight into Alzheimer's disease and age-related disorders, such as cancer, Parkinson disease, ulcerative colitis, and several other conditions. Individuals with Down syndrome experience advanced aging.