NDSS advocates to accelerate the discovery, development and delivery of life saving and life improving therapies for people with Down syndrome. Our efforts include supporting legislation as well as participating in key partnerships such as the NIH Down Syndrome Consortium.
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.
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.
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.
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.
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.
Update on December 13, 2016: The 21st Century Cures Act was signed into law by President Obama. Many thanks to all those who advocated for the passage of this legislation!
The 21st Century Cures Act (HR 34) is a package of bills that seek to modernize processes from the discovery of clues in basic science, to streamlining drug and medical device development, to utilizing the power of digital medicine and social media at the treatment delivery phase.
NDSS supports the 21st Century Cures Act because it will significantly benefit individuals with Down syndrome in a number of important ways:
- By helping to design more targeted clinical trials that can produce faster and more cost-effective results, the legislation would expedite the ability of Down syndrome researchers to translate recent discoveries about the genetic basis for cognitive and medical impairments associated with Down syndrome into real treatments and therapies
- For individuals with Down syndrome who live with co-occurring and secondary psychiatric and medical conditions (including childhood leukemia, congenital heart disease, autism spectrum disorders, sleep apnea and epilepsy, to name a few), the legislation removes barriers to research collaboration and promotes a concerted and coordinated interdisciplinary effort to examine their correlation and impact
- In seeking to remove barriers to collecting, analyzing and sharing research and clinical data, the legislation will help in developing a better understanding of the pathology of Alzheimer’s disease in adults with Down syndrome, and provide new insights into how best to treat all people with Alzheimer’s disease, not just those with Down syndrome
- By supporting increased partnerships among government agencies, such as NIH and the FDA, and private stakeholders, the legislation will provide significant new resources to support the research and clinical infrastructure needs for the Down syndrome scientific and research community
In 2013, NDSS established a restricted fund, the Down Syndrome Research Innovation & Discovery Fund, to support research and clinical infrastructure needs for the Down syndrome scientific and research community.
The NDSS Research Innovation & Discovery Fund supports funding priorities focused on advancing scientific and research needs of the Down syndrome research community. These include:
- Working with other national Down syndrome organizations, biomedical and clinical researchers, 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
- Supporting Down syndrome research advocacy efforts that highlight developments in the area of Down syndrome research and missing gaps
- Funding mechanisms focused on translational research and public-private partnerships for researchers to spur innovation and research infrastructure for Down syndrome
- Developing formalized partnerships with the Alzheimer’s community to continue engagement around the National Alzheimer’s Plan (NAPA), leverage public and private funding opportunities for Alzheimer’s in Down syndrome and educate and build additional support for this initiative among policymakers
To advise NDSS on the scope of the fund and its funding priorities, a steering committee was established consisting of individuals with expertise in the priorities identified in this charter. This includes clinical researchers, neuroscientists, geneticists and representatives of Down syndrome research organizations, public sector partners and pharmaceutical companies.
NDSS hosts an annual “Caring with Congress” fundraising event for Down syndrome research in Washington, DC. Members of the Congressional Task Force on Down Syndrome agree to serve as the honorary co-hosts for this event, the proceeds of which support the NDSS Research Innovation & Discovery Fund.
To learn more about ways to donate to the NDSS Research Innovation & Discovery Fund, please click here.