NDSS is at the forefront of supporting initiatives that advance the biomedical research field in Down syndrome. The organization is working with other national Down syndrome groups, biomedical and clinical researchers, 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.
A lack of research on individuals with Down syndrome who have numerous co-occurring and/or simultaneous psychiatric and medical conditions has been an impediment to the development of clinical and behavioral treatments and interventions. According to the NIH, at least one half of all children with Down syndrome also have one or more such conditions. During the early years of life and across their lifespan, these so-called “comorbid” conditions could have the potential to significantly affect cognitive function and overall health.
Down syndrome research could benefit significantly from the development of new tools and resources for measuring, for purposes of clinical outcomes, the differences in results related to co-occurring psychiatric or medical conditions and genetic differences among individuals. Authorizing NIH to develop classification and measurement tools for such conditions would significantly expedite ongoing efforts to develop effective treatments and interventions. Psychiatric and medical conditions that could benefit from NIH’s partnership in the development of such tools include Alzheimer’s disease, childhood leukemia, congenital heart disease, autism spectrum disorders, sleep apnea and epilepsy, to name a few.
Scientists have discovered that the majority of individuals with Down syndrome develop the pathology of Alzheimer’s disease while in the mid-40’s. 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, NIH recently published a new grant proposal to study biomarkers of Alzheimer’s disease in Down syndrome. The goal is 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.
Completion of the biomarkers study could take up to five years and cost more than $15 million, but NIH has only announced funding for the first year. Therefore, there is concern that future funding may not be sufficient to complete the study, or it could come at the expense of other high priority research investments in Down syndrome. This would be problematic, given that overall NIH funding for Down syndrome research-related projects, as well as investigator-driven research awards, has been stagnant in recent years.
It is important that NIH provide sufficient grant funding to complete the multi-year biomarkers study of Alzheimer’s disease in individuals with Down syndrome, and to ensure that future funding does not come at the expense of ongoing and other priority research investments. In addition, effectively exploring the link between Down syndrome and Alzheimer's requires collaboration and resources across the various institutes of the NIH. Until now, the National Institute of Child Health and Development (NICHD) has been the lead agency on investigator-driven research awards in the area of Down syndrome. A more collaborative approach between NICHD, the National Institute of Aging (NIA) and the National Institute of Neurological Disorders and Stroke (NINDS) would facilitate biomedical advances in understanding both Down syndrome and Alzheimer’s disease
Public Private Partnerships
In 2006, NICHD created the Down Syndrome Working Group consisting of scientists from across the 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, a comprehensive plan focused on genetic and neurobiological research relating to the cognitive effects associated with the condition. That plan was updated in December 2014 and includes a new section on “Down Syndrome and Aging,” which recognizes the link between Alzheimer’s disease and Down syndrome.
In an effort to foster communication and idea-sharing, the Down Syndrome Consortium was created in 2011 by NIH and consisting of individuals with Down syndrome and their families, national organizations interested in Down syndrome and pediatric and other groups. 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 will store 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.
Additional public-private partnerships between NIH and the Down syndrome community are necessary to advance research and improve health outcomes for individuals with Down syndrome. For example, the NIH Research Plan on Down Syndrome recognizes the need for a centralized brain, organ and tissue biobank for Down syndrome so that researchers have a sufficient sources of biological samples to better understand the factors that underlie dementia and other health and cognitive conditions associated with Down syndrome. However, given the scarce public and private funding for Down syndrome biomedical and clinical research, such a centralized repository will be difficult to develop without a collaborative partnership with NIH similar to DS Connect.
Page last updated: October 11, 2015