Rosser, Tracie C PHD

Down syndrome (DS) is the most common genetic form of intellectual disability and is associated with an increased risk for many adverse health outcomes, including structural heart defects, sleep apnea, thyroid abnormalities, hearing and vision problems, and early-onset dementia. NIH’s INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project is funding a broad effort to collect data from a large group of people with DS across a range of ages and backgrounds to help researchers understand why individuals with DS are more likely to have these conditions, which will help guide treatments and interventions to improve their health and well-being. The INCLUDE Clinical Cohort Coordinating Center will play an important role in this effort by working with cohort collection sites to capture data from a wide range of health conditions and make sure these data are submitted to the INCLUDE Data Coordinating Center, where it will be accessible for researchers.

Down syndrome (DS) leads to a significant risk for structural birth defects and health conditions, all presenting with substantial variability in severity. We have obtained whole genome sequencing (WGS) on approximately 1700 probands with Down syndrome (DS) via three service awards. In this R03, we request funds to enrich the available phenotype data on this established DS-WGS cohort (KF-X01-DS-CHD dbGaP accession number phs002330) and harmonize these data with other resources to ensure maximum impact of this first-of-its kind genotype/phenotype investment in DS research.