Our laboratory studies the spatial organization of the genome, with implications for gene regulation, genome integrity, and diseases such as cancer, aging, and neurodegenerative disorders. We use Drosophila and mammals in combination with cellular, molecular, genetic, and computational tools to elucidate how chromosomes are functionally organized in 3-D space and time. We also develop and utilize new technologies that use fluorescent in situ hybridization (FISH) to interrogate chromosome positioning at single-cell resolution. These include a pipeline for high-throughput FISH (Hi-FISH), and a new type of probe, called Oligopaints, which reduces the cost and increases the resolution of FISH.

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