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 IDDs, 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.
Many of the NICHD's goals for research on Down syndrome align with topic areas described in the NIH Research Plan on Down Syndrome. 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.
- Causes, pathophysiology, and disease progression. Topics include aging and Down syndrome, the effect of cellular and molecular processes on symptoms, and cognitive functioning in model mice.
- Diagnosis, screening, and functional measures. Goals in this area include improved characterization of Down syndrome phenotypes, investigation of measures of cognitive function throughout the lifespan, and better linkage between human and mouse studies.
- Treatment. This topic area includes testing orphan drugs, measuring the impact of early intervention on cognitive development, and using Alzheimer's disease research to inform potential therapeutics.
- Comorbid medical and psychiatric conditions. Research explores treatment and management of such conditions as leukemia, congenital heart disease, and dementia.
- Living with Down syndrome. Studies cover a broad range of issues, such as tracking real-world outcomes for families living with Down syndrome, health disparities in access to care, and interventions for transitional stages.
- Research infrastructure. Efforts include promoting the inclusion of people with Down syndrome in a range of NIH-sponsored clinical trials, building tissue and brain banks, and improving availability of animal models.
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.