Lupo, Philip J 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.

Integrating Epidemiologic and Genomic Data to Elucidate the Genetic Overlap Between Congenital Anomalies and Pediatric Cancer

Huff, Chad DanielLupo, Philip J

In our prior work, we have identified multiple novel congenital anomaly-cancer associations by linking data from population-based birth-defects and cancer registries from four states. Here, we propose to expand this study to seven additional states to analyze a cohort representing >25 million live births and approximately 35% of the US population. We will also search for genetic mechanisms driving these associations through the analysis of whole-genome sequencing data in 20,000 children with congenital anomalies or pediatric cancer, including 2000 sequenced tumors.

Down Syndrome Publications​