Cellular and molecular models for epigenetic studies of human disease

MCT Research Seminars –¬†20th September at 4.00pm

My research group focusses on understanding the models of genetic susceptibility to human disease, especially those affecting children. Primarily, we focus on the study of the epigenome, as a regulator of transcriptional activity that can mediate memory of prior events, whether developmental cues or environmental perturbations.

The research is facilitated by Einstein’s Center for Epigenomics, its Epigenomics Shared Facility and the Computational Epigenomics Group, where the development of the Wasp System software cyberecosystem is nurtured.

In essence, our research involves the targeting mechanisms of DNA methylation, the role of non-canonical nucleic acid structures and the heritability of chromatin states. We have been guided by our epigenomics studies to consider the broader possibility that mosaicism for cellular events is a much more common cause of human disease phenotypes than currently appreciated. We are therefore expanding our research interests to encompass genetic mosaicism, with an interest in isolated congenital malformations and covert chromosomal aneuploidy.