Epigenetic mechanisms of human disease
We have been studying epigenetic mechanisms of mammalian phenotypes for many years, developing genome-wide assays and analytical approaches to facilitate this work. Recently, we have re-evaluated how these studies should be performed, now moving towards the Second-Generation Epigenome-wide Association Study as our preferred approach.
The modest changes in DNA methylation associated with phenotypes has prompted us to consider the possibility that mosaic subpopulations of cells can mediate human phenotypes. We are increasingly involved in studies to test for mosaicism in human phenotypes, with our new MAD-seq approach designed to reveal chromosomal events.
The patient population of the Bronx highlights the challenges and opportunities involved with providing clinical genetic services to very diverse people. Our upcoming involvement in the CSER2 program will be focused on the development of visual interfaces that allow intuitive exploration of these complex genomic data.
Cancer field defects
We have published studies in both cervical carcinoma and hepatocellular carcinoma that reveal the same pattern of acquisition of DNA methylation and polycomb silencing in pre-malignant lesions. We would like to pursue this further with the idea that this offers a means of chemoprevention in these at-risk individuals.
We have an interest in data visualisation, summarised in this presentation, that led us to develop the open-source Pcaso tool. Our eventual goal is to develop an Open Genomics Visualization Initiative that brings together people with an interest in this topic to work in a virtual collaborative environment.