The leading human rights organization for all individuals with Down syndrome.

National Down Syndrome Society
8 E 41st Street, 8th Floor
New York New York 10017
800-221-4602
[email protected] 

Down Syndrome Research and Funding

Overview

NDSS is at the forefront of supporting initiatives that advance biomedical research on Down syndrome. NDSS works with other national Down syndrome groups, biomedical and clinical researchers, the National Institutes of Health (NIH) and local service providers to cooperatively develop the infrastructure for sustainable and continuous multi-institutional and state-of-the-art trials to develop, validate, refine and deliver new treatments and therapies to people with Down syndrome. In addition, NDSS has developed formalized partnerships with the Alzheimer’s community to continue engagement around the National Alzheimer’s Plan, promoting research opportunities, both public and private, for Alzheimer’s in Down syndrome, and educating and building support for this initiative among policymakers.

NIH Research Plan on Down Syndrome

In 2006, the National Institute of Child Health and Human Development created the Down Syndrome Working Group consisting of scientists from across NIH to coordinate ongoing research and identify new research efforts. Working with the overall Down syndrome community, the Working Group in 2007 created and published the NIH Research Plan on Down Syndrome, an 80-page scientific plan that outlines Down syndrome research goals and objectives for the NIH Institutes. The plan was developed by the NIH Down Syndrome Working Group, which includes representatives from 11 NIH Institutes, Centers and Offices. The Group consulted with the scientific, family, and advocacy communities in drafting the plan, which was updated in December 2014 with a new section on “Down Syndrome and Aging,” which recognizes the link between Alzheimer’s disease and Down syndrome.

In September 2011, NIH joined with NDSS and other organizations interested in Down syndrome to form the NIH Down Syndrome Consortium to foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition. The consortium is focused on the implementation of the NIH Research Plan on Down Syndrome. One of its first activities was to create a Down syndrome registry, now called DS-Connect®: The Down Syndrome Registry. Launched by NIH in 2014, the registry stores detailed information about people with Down syndrome who wish to participate in studies by doctors and scientists seeking to develop new and effective educational, behavioral and drug treatments. The NIH Down Syndrome Consortium meets two to three times a year.

NDSS commends NIH for developing the Research Plan on Down Syndrome and supporting a number of initiatives outlined in the plan. However, much more needs to be done to fulfill the objectives outlined in the plan. This includes expanding cross-institute collaboration to address the persistent challenges that impede the development of clinical and behavioral treatments across the lifespan of people with Down syndrome. Currently, Down syndrome research is primarily the purview of the National Institute of Child Health and Human Development. However, Down syndrome is no longer a childhood condition. Some individuals with Down syndrome are living to be nearly 80 years old, and there is much to learn from and about the medical and behavioral conditions that are associated with Down syndrome.  

Co-Occurring Conditions 

People with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses. Quality educational programs, a stimulating home environment, good health care and positive support from family, friends and the community enable people with Down syndrome to lead fulfilling and productive lives. 

At the same time, people with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions. Many of them also have secondary neurobiological, behavioral and psychological conditions, such as autism spectrum disorders. NDSS is working with policymakers and the research community to bring about increased NIH funding for research into these co-occurring conditions so that people with Down syndrome can live more fulfilling lives. This includes attending college and going to work, participating in decisions that affect them, having meaningful relationships, voting and contributing to society in many wonderful ways. 

In addition to improving the quality of life for people with Down syndrome, funding studies into many of the coexisting conditions in Down syndrome, such as Alzheimer’s disease, autism spectrum disorders and congenital heart disease, will provide new insights into how best to treat all people with those conditions, not just those with Down syndrome. The same holds true for studying conditions that are rare in people with Down syndrome, such as solid tumors.

Alzheimer’s Connection

Scientists have discovered that the majority of individuals with Down syndrome develop the pathology of Alzheimer’s disease while in the mid-40s. They believe that studying Alzheimer’s in Down syndrome will provide new insights into how best to treat all people with Alzheimer's disease, not just those with Down syndrome. In fact, the Department of Health and Human Service’s National Plan to Address Alzheimer’s Disease underscores the relationship between Down syndrome and Alzheimer’s disease by recognizing the need to improve access to long-term services and supports for individuals with Down syndrome. In addition, the five-year study of biomarkers of Alzheimer’s disease in Down syndrome, funded by NIH, will help to identify the progression of Alzheimer's disease over the life-span of adults with Down syndrome using clinical, cognitive, imaging, genetic and biochemical indicators. Further, understanding the disease process in people with Down syndrome could help in the discovery of new drugs and other treatments for others with or on the path to Alzheimer’s disease.

Additional Research Priorities

NIH received a $2 billion increase in funding in both fiscal years 2016 and 2017. In addition, the 21st Century Cures Act enacted by Congress as the end of 2016 provided more than $4 billion in additional funding for the NIH spread over five years. As a result of these funding increases, NDSS is urging NIH to increase its focus and commitment to Down syndrome research.

For example, Down syndrome researchers and health care providers would benefit significantly from NIH support for a longitudinal study of people with Down syndrome across the lifespan to gather natural history data and to determine the effects of pharmaceutical and behavioral interventions. Researchers could also benefit from NIH assistance in setting up one or more brain and tissue biorepositories for Down syndrome to systematically collect, store and distribute brain and tissue samples to Down syndrome researchers. Further, more resources are needed to address the behavior health needs of people with Down syndrome, including those with autism spectrum disorders, with the goal of providing support to those with such conditions.

For More Information

For more information, contact NDSS at [email protected].


EXTERNAL RESOURCES

Page last updated: May 12, 2017

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