Systematic Multi-Omic Deconvolution of Clinical Heterogeneity in Down Syndrome

A large-scale multi-omic study of 356 individuals with Down syndrome examined how trisomy 21 impacts gene expression, proteins, metabolites, and immune function across 100 clinical phenotypes. The research identified specific molecular signatures associated with major comorbidities like obesity, congenital heart defects, seizures, and gastrointestinal conditions, revealing immune dysregulation as a key driver of diverse clinical presentations and supporting personalized medicine approaches.