Down Syndrome study on dbGaP (1,152 participants)

phs002983 — INCLUDE: Genetic Underpinnings of the Multifactorial Phenotype of Trisomy    21 Patients Unveiled by Multi-Omics Approaches

The <a href="https://www.nih.gov/include-project">INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project</a> is an NIH-wide collaboration that seeks to improve health and quality-of-life for people with Down syndrome. The <a href="https://includedcc.org/">INCLUDE Project Data Coordinating Center</a> and partners created the INCLUDE Data Hub, a centralized data resource that allows access to large-scale clinical and multi-omics datasets specific to Down syndrome and supports collaborative, cloud-based analysis to accelerate scientific discoveries related to Down syndrome and its co-occurring conditions.Down syndrome (DS) is the most common chromosomal abnormality in livebirths with an incidence of 1 in 700 in the US. To better understand the pathophysiology of DS, this proposal will generate and analyze sequence data on 777 pediatric DS patients from the Children's Hospital of Philadelphia (CHOP), as well as 321 mothers and 148 fathers. We anticipate that the information derived from this deeply-phenotyped cohort will allow for improved understanding of the pathophysiology and molecular mechanisms underlying DS-associated comorbidities, which may inform on new practices for treatment or innovative future therapies.