New NIH Grant Awards Boost Funding for Research on Down Syndrome



INCLUDE project aims to address conditions of Down syndrome and apply knowledge to larger population.

The National Institutes of Health has awarded approximately $35 million in new grants in fiscal year (FY) 2019 to advance research on Down syndrome through the Investigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome (INCLUDE) project. These awards bolster total funding for Down syndrome research in FY 2019 to an estimated $77 million. INCLUDE is a trans-NIH effort with participation from many NIH institutes and centers. Research funded by INCLUDE will investigate critical health and quality-of-life needs for individuals with Down syndrome, while at the same time explore co-occurring conditions with individuals who do not have Down syndrome.

“Individuals with Down syndrome are both affected by and protected against many of the conditions that afflict the general population,” said NIH Director Francis S. Collins, M.D., Ph.D. “By improving our understanding of the basic biological mechanisms of Down syndrome, and making clinical trials more accessible and specifically tailored to individuals with Down Syndrome, we expect that research from the INCLUDE project will benefit everyone.”

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 resembling 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.

The latest round of INCLUDE funding will support research to:

  • Study gene silencing to understand functions of genes on chromosome 21, particularly in brain development.
  • Investigate immune dysregulation in Down syndrome, which may explain the unique tumor spectrum found in individuals with Down syndrome; specifically, their resistance to solid tumors, but predisposition to leukemias.
  • Expand the Pediatric Cardiac Genomics Consortium for uncovering causes of congenital heart defects in individuals with and without Down syndrome.
  • Develop customized and improved cognitive and neurodevelopmental outcome measures in a cohort of young adults with Down syndrome, thus paving the way for meaningful clinical trials for these individuals.
  • Launch clinical studies to understand and protect against the unique cardiotoxicity observed in children with Down syndrome undergoing treatment for acute lymphoblastic leukemia.
  • Build a ‘trial-ready’ cohort of adults with Down syndrome and conducting a trial of an anti-amyloid therapeutic agent for Alzheimer’s disease tailored for these individuals.
  • Explore options for home-based evaluation for obstructive sleep apnea and conduct clinical trials to address sleep apnea outcomes in children with Down syndrome.

Additionally, work at several participating NIH institutes and centers will support the goals of the INCLUDE project:

  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is expanding their Pediatric Trials Network to ensure medications commonly used in children with Down syndrome are tailored to them.
  • NICHD also is launching a physician training program to raise awareness of the unique care needs for children with Down syndrome.
  • The National Institute on Aging is expanding the reach of the INCLUDE project through a study that will set the stage for testing a treatment for Alzheimer’s disease specifically for individuals with Down syndrome.
  • The National Heart, Lung, and Blood Institute will introduce a new training program for young investigators specifically on Down syndrome research as part of their Pediatric Heart Network.

Learn more about the INCLUDE project and individual research projects.

About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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Via New NIH grant awards boost funding for research on Down syndrome | National Institutes of Health (NIH)

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