We conduct spatial epigenetics and 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 territories and Genome integrity
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
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
Cornelia de Lange Syndrome
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
Spatial Organization of the epigenome
The emerging view is that interactions between regulatory elements and promoters are insulated within extensive self-interacting units termed topologically associated domains (TADs), which are further positioned in the nucleus to spatially segregate active and
