We conduct chromosome dynamics research within the Department of Genetics and Epigenetics Institute at the University of Pennsylvania School of Medicine. Our primary goals are to understand how the structure and position of chromosomes within the nucleus is established and inherited across cell divisions, and how dysfunctional organization contributes to genome instability and disease.
Our Research
Chromosome Folding
The major feature that stands out in the nucleus of all metazoan genomes are the chromosome territories (CTs), which have nonrandom radial positions that are conserved through evolution. We are using our custom Oligopaint FISH probes to identify signatures of chromosome arrangement
SMC Complexes and Disease
Cornelia de Lange Syndrome (CdLS) is a developmental disorder characterized by congenital abnormalities, intellectual disability, and multi-system clinical symptoms including congenital heart disease. The disorder typically manifests due to mutations in
High-throughput FISH-based screening
Although chromosome interactions are a fundamental aspect of nuclear organization little is known about how they are established, regulated, and inherited across cell divisions. To address this gap, we developed a fully automated FISH-based imaging
