Genome-wide Association Studies | CHOP Research Institute

Genome-wide Association Studies

The Goldmuntz Laboratory manages a cardiac biorepository of case and parental samples, all of which have congenital heart disease.

The Felix Lab aims to understand the pathobiology of leukemias with KMT2A (MLL) translocations in order to discover better treatments and preventative approaches.

Published on
Nov 19, 2019
Using eMERGE Network data, researchers identified genome-wide significant loci that might be biomarkers for risk of cardiovascular disease.

Dr. Cardinale's research is focused on understanding the mechanisms of gene expression and gene regulation in autoimmune diseases, including inflammatory bowel disease, type 1 diabetes, and systemic sclerosis. He uses data from large-scale genomic studies to identify disease-causing genetic variants and functionally explore the target genes of those variants.

cardinalec [at]

Dr. Felix uses molecular, biochemical, cellular and in vivo methods to investigate the pathobiology of leukemias with KMT2A (MLL) translocations. Leukemias with these translocations affect infants and young children or occur as a complication of type II topoisomerase (TOP2) poison chemotherapies used for anti-cancer treatment. She aims to develop better treatment and prevention approaches for these leukemias, which have a poor prognosis.

felix [at]
Published on
Jun 23, 2014
New research from The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania details how a diabetes-related gene functions on a biological pathway that affects the release of insulin.
Published on
Jun 11, 2014
After analyzing the DNA from thousands of patients, investigators from Children’s Hospital have uncovered several gene networks that may play important roles in autism.