The National Institute of Neurological Disorders and Stroke (NINDS) awarded $705,715 to Boston Children's Hospital under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) program for a multiomic investigation of sudden unexplained pediatric deaths. Initiated February 1, 2026, and extending through December 31, 2030, this project builds upon the recipient's existing Program on Sudden Unexpected Death in Pediatrics (SUDP) by integrating additional phenotypic and genetic data from the NIH/CDC Sudden Death in the Young (SDY) Registry. The research employs deep phenotyping, whole genome sequencing, metabolomic analysis, and polygenic risk scoring to identify molecular underpinnings and genetic susceptibilities in sudden and unexpected deaths in individuals aged 0-20 years, including Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death in Childhood (SUDC).
The project utilizes a multidisciplinary approach modeled after undiagnosed disease programs to identify previously unrecognized genetic conditions contributing to SUDP and SDY. Building on prior proof-of-concept findings demonstrating genetically based susceptibilities in 11% of SUDP cases, the research investigates neurodevelopmental, epilepsy-related, cardiac, metabolic, and respiratory factors with genetic bases. Through comprehensive genomic analysis and family engagement, the investigation aims to identify Mendelian disorders and assess genetic risk using polygenic scores for phenotypes relevant to sudden unexplained pediatric deaths, addressing a condition responsible for nearly one in ten deaths in U.S. children.