• Press Release

Mount Sinai Researchers Awarded $3.2 Million NIH Grant to Advance Understanding of Down Syndrome

INCLUDE project aims to address conditions and apply knowledge to larger population

  • New York, NY
  • (October 22, 2019)

Mount Sinai researchers have been awarded a $3.2 million grant from the National Institutes of Health (NIH) to pursue a deeper understanding of Down syndrome, the most common genetic cause of intellectual and developmental disabilities in children and young adults, affecting more than 200,000 individuals in the United States.

In addition to cognitive problems, individuals with Down syndrome often have cardiac and gastrointestinal abnormalities, as well as immunity-related defects, including increased susceptibility to an array of infectious diseases and to autoimmune diseases. These immune defects may contribute to the disease, but how and why is not well understood. Researchers at the Icahn School of Medicine at Mount Sinai hypothesize that type I interferons or IFN-Is, the cytokines or proteins important in cell signaling, that play a key role in the antiviral response but can also be detrimental to human health, may be important to the molecular mechanism underlying these immune defects.

The grant is part of the Investigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome (INCLUDE) project, which has awarded a total of $35 million in new grants this year for Down research to many NIH institutes and centers across the country. Research funded by INCLUDE will investigate critical health and quality-of-life needs for individuals with Down syndrome, while at the same time exploring co-occurring conditions with individuals who do not have 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 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.

"This research will allow us to generate information on how to advance treatment of Down syndrome as it pertains to inflammatory and other co-occurring conditions,” said principal investigator Dusan Bogunovic, PhD, Associate Professor of Microbiology, and Pediatrics, at the Icahn School of Medicine at Mount Sinai and a faculty member of The Mindich Child Health and Development Institute at Mount Sinai. “The INCLUDE project will help transform how we understand inflammation as a contributor to disease progression and improve our understanding of the molecular mechanism of Down syndrome.”

“We are excited about this study because we think it could provide insights on how to prevent or minimize intellectual disabilities in people with Down syndrome,” said Kristen Brennand, PhD, Associate Professor of Neuroscience, Genetics and Genomic Sciences, and Psychiatry, at the Icahn School of Medicine at Mount Sinai and co-investigator. “It’s a new application of our lab’s expertise, and an exciting new collaboration with Dusan—our first collective foray into the impact of inflammation on neurodevelopment.”

Learn more about the INCLUDE project and individual research projects.

About the Mount Sinai Health System

Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with more than 43,000 employees working across eight hospitals, over 400 outpatient practices, nearly 300 labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time — discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.

Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 7,300 primary and specialty care physicians; 13 joint-venture outpatient surgery centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and more than 30 affiliated community health centers. We are consistently ranked by U.S. News & World Report's Best Hospitals, receiving high "Honor Roll" status, and are highly ranked: No. 1 in Geriatrics and top 20 in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Neurology/Neurosurgery, Orthopedics, Pulmonology/Lung Surgery, Rehabilitation, and Urology. New York Eye and Ear Infirmary of Mount Sinai is ranked No. 12 in Ophthalmology. U.S. News & World Report’s “Best Children’s Hospitals” ranks Mount Sinai Kravis Children's Hospital among the country’s best in several pediatric specialties.

For more information, visit https://www.mountsinai.org or find Mount Sinai on Facebook, Twitter and YouTube.

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