Washington DC- The National Institutes of Health has awarded $22.2 million in supplemental funding to bolster support for Down syndrome research ranging from basic to clinical. The investment is part of the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down SyndromE) project, which was launched in June 2018 in response to a Congressional directive to develop a new trans-NIH initiative to investigate critical health and quality-of-life needs for individuals with Down syndrome. With these additional awards, NIH funding for Down syndrome research will total an estimated $59 million in fiscal year (FY) 2018, with further support anticipated in FY2019, pending availability of funds.

“We have a unique opportunity to improve health outcomes for those with Down syndrome by increasing their inclusion in research,” said NIH Director Francis S. Collins, M.D., Ph.D. “People with Down syndrome are at risk for many of the same conditions as the general public such as Alzheimer’s disease, sleep apnea, heart disease, and autism, and it is my hope that this effort will provide meaningful insights to find treatments that benefit both populations.”

INCLUDE’s research strategy is distinct in that it seeks to improve the health of people with Down syndrome, while simultaneously investigating the risk and resilience factors for common diseases shared with individuals who do not have Down syndrome. Projects that received additional funding fell within three major research areas identified in theINCLUDE Research Plan:

  • conduct targeted high-risk, high-reward basic science studies
  • develop a large study population to fully characterize condition traits at different ages of development and study co-existing conditions
  • establish a clinical trials network for testing therapies for co-occurring conditions in the Down syndrome population, and expanding existing clinical trial infrastructure to better accommodate individuals with Down syndrome

Down syndrome is associated with intellectual and physical challenges resulting from the presence of an extra, full or partial, chromosome 21. Individuals with Down syndrome experience various rates of cognitive disability and in later years, dementia, which resembles Alzheimer’s disease, as well as hearing loss, congenital heart defects, and sleep apnea. Autism and epilepsy are prevalent in the population, as are autoimmune disorders such as celiac disease. However, individuals with Down syndrome infrequently develop solid tumors, such as breast or prostate cancer, or have heart attacks, despite having multiple risk factors, such as obesity and type 1 diabetes. Understanding the molecular basis for why some of these conditions occur and others do not will inform how to approach medical treatment for individuals with Down syndrome, and for individuals who do not have Down syndrome but share these co-occurring conditions.