Down syndrome consortium formed

NIH, Down syndrome groups to meet regularly for exchange of information, ideas

National Institutes of Health has joined with organizations interested in Down syndrome to form a consortium that will foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition.

"The idea is to have an open channel of communication between the NIH and those organizations intimately involved with Down syndrome," said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the agency that will chair the new consortium. "The consortium will allow NIH to inform the Down syndrome community of advances in the field, ongoing studies, and potential avenues for future research. In turn, those who work in Down syndrome research and patient care can share their experiences and ideas for potential research opportunities with NIH."

Down syndrome most frequently results from an extra copy of chromosome 21 in the body's cells. The chance of giving birth to a baby with Down syndrome increases as women age. Infants with Down syndrome have certain characteristic physical features, such as short stature and distinctive facial features. They are also more likely to have health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease. Because of its far reaching effects on an individual’s health, Dr. Maddox explained, Down syndrome warrants a comprehensive research effort by a wide array of scientific disciplines.

"A single, comprehensive forum will make the research effort to address Down syndrome more effective, minimizing duplication of effort and capitalizing on the knowledge of those with the greatest experience in the field," Dr. Maddox said.

A focus of the consortium will be the implementation of the NIH Down syndrome research plan, which set research goals for Down syndrome, based on previous research accomplishments and the need for research in areas in which evidence is lacking. The consortium will meet two to three times a year.

Individuals with Down syndrome and family members will be represented on the consortium, which will also include the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research, and representatives from prominent Down syndrome and pediatric organizations.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute’s Web site athttp://www.nichd.nih.gov/.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visitwww.nih.gov.

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