Research on lifelong disorders, such as Down syndrome, has been a fundamental part of the NICHD’s mission since the Institute was established 45 years ago. To build on this research foundation and coordinate Down syndrome research the NIH created its Working Group on Down Syndrome. Down syndrome is the most common genetic cause of intellectual and developmental disability and occurs in one out of 800 births in the United States.
The Group’s purpose is to coordinate and advance ongoing NIH-supported research, to take advantage of emerging scientific opportunities, and to set the stage for future research collaborations. The Working Group is led by the NICHD and includes the NIH Office of the Director, the National Cancer Institute, the National Heart, Lung, and Blood Institute, the National Institute on Aging (NIA), the National Institute of Allergy and Infectious Diseases, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders, the National Institute on Drug Abuse, and the National Institute of Dental and Craniofacial Research.
These Institutes either have ongoing projects or had past research projects that relate to specific aspects of Down syndrome. For instance, adult individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by patients with Alzheimer disease. The NIA has been studying aging in Down syndrome, not only to determine how to address the symptoms associated with aging in this population, but also as a possible bridge to learning more about Alzheimer disease.
Throughout 2007, the Working Group met with members of the scientific community and with representatives from national organizations that focus on Down syndrome to discuss research successes, gaps in knowledge, and the needs of the community. From these meetings, the Working Group developed its Research Plan on Down Syndrome, which was recently released to Congress and to the public.
The Plan not only describes knowledge gaps and research needs, but it also outlines short- medium- and long-term goals for the NIH to advance the research field related to Down syndrome. Having such a plan will help to ensure that resources are used effectively, that there is no duplication of efforts, and that collaboration becomes standard practice for these agencies and organizations.
In addition, this trans-NIH Working Group and resulting Research Plan on Down Syndrome is becoming an important framework for research efforts on other diseases that include health issues relevant to multiple NIH Institutes. For example, the NICHD recently held a meeting of the Fragile X Working Group and representatives from national organizations that focus on Fragile X syndrome, currently a leading cause of inherited intellectual and developmental disability, to discuss future efforts and collaboration to create a similar plan on Fragile X syndrome and its related conditions.
For more information about Down syndrome and the NIH Working Group on Down Syndrome, select one of the links below:
Originally Posted: January 22, 2008
All NICHD Spotlights