Chou, Stella T MD

Children's Hospital of Philadelphia


Understanding the complexity of gene dosage imbalance in Down syndrome

Chou, Stella T

The overall theme is to produce novel, medically relevant knowledge that advances our understanding of gene dosage imbalance in Down syndrome (DS), with a particular interest in DS-associated leukemia. The studies proposed have innovative solutions to major challenges that have been identified in the field, and will provide a comprehensive and comparative view of genome-wide transcriptome and chromatin architecture using isogenic DS induced pluripotent stem cells that differ only by copy number of HSA21 or specific candidate genes.