The NICHD has a long history of conducting and supporting research on Down syndrome and related disorders. When the Institute was established in 1962, one of its primary charges was to encourage investigations on human development throughout the lifespan, with an emphasis on understanding intellectual and developmental disabilities, including Down syndrome.
Since then, researchers have explored the chromosomal causes of the syndrome, created animal models to test interventions, assessed long-term outcomes for people living with the syndrome, and addressed many other biomedical and behavioral topics.
The NIH published its revised plan—Down Syndrome Directions: NIH Research Plan on Down Syndrome (2014)—in November 2014. The NICHD is working to update the content on this page to reflect the revised Research Plan.
Many of the NICHD's goals for research on Down syndrome align with topic areas described in the NIH Research Plan on Down Syndrome (2007). The Institute played a lead role in developing the Research Plan as part of the trans-NIH Working Group on Down Syndrome, which aims to build on the existing research foundation and to coordinate Down syndrome research at the NIH. Some of the goals from the Research Plan are listed below.
In addition, the NICHD is a leading and active member of the Down Syndrome Consortium, a public-private partnership created to foster information exchange on biomedical and biobehavioral research on Down syndrome. The Consortium's activities include implementing the Research Plan and establishing a Down syndrome registry.
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