Mount Sinai researchers awarded NIH grant to advance understanding of Down syndrome
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 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
The Mount Sinai Health System is New York City’s largest integrated delivery system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai’s vision is to produce the safest care, the highest quality, the highest satisfaction, the best access and the best value of any health system in the nation. The Health System includes approximately 7,480 primary and specialty care physicians; 11 joint-venture ambulatory surgery centers; more than 410 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report’s “Best Medical Schools”, aligned with a U.S. News & World Report’s “Honor Roll” Hospital, No. 12 in the nation for National Institutes of Health funding, and among the top 10 most innovative research institutions as ranked by the journal Nature in its Nature Innovation Index. This reflects a special level of excellence in education, clinical practice, and research. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report’s “Honor Roll” of top U.S. hospitals; it is one of the nation’s top 20 hospitals in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Geriatrics, Gynecology, Nephrology, Neurology/Neurosurgery, and Orthopedics in the 2019-2020 “Best Hospitals” issue. Mount Sinai’s Kravis Children’s Hospital also is ranked nationally in five out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked 12th nationally for Ophthalmology, Mount Sinai St. Luke’s and Mount Sinai West are ranked 23rd nationally for Nephrology and 25th for Diabetes/Endocrinology, and Mount Sinai South Nassau is ranked 35th nationally for Urology. Mount Sinai Beth Israel, Mount Sinai St. Luke’s, Mount Sinai West, and Mount Sinai South Nassau are ranked regionally.
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