Jacola, Lisa M PHD

INCLUDE Grants​

Down Syndrome Early Childhood Omics, Deep Phenotyping, and Epidemiology in Texas: DECODE IT Cohort

Agopian, A JJacola, Lisa MLupo, Philip JRabin, Karen RRasmussen, Sonja Ann

Children with Down syndrome (DS) have a higher burden of many co-occurring conditions including 1) structural birth defects, which are associated with significant morbidity and mortality; 2) abnormal hematopoiesis, which includes a 20-fold increased risk of acute leukemia; and 3) neurodevelopmental disorders, which significantly impact functional independence and quality of life. Important gaps in knowledge limit health supervision guidelines and targets for intervention. In this application, we seek to address these gaps by leveraging the Texas Birth Defects Registry, one of the world’s largest and most diverse population-based active birth defects surveillance systems, to develop the Down syndrome Early Childhood Omics, Deep phenotyping, and Epidemiology In Texas: DECODE IT Cohort to include >1,000 children with DS, representing a diverse population historically excluded from DS research.