Research overview

We have been studying molecular genomic (epigenetic) mechanisms of mammalian phenotypes for many years, developing genome-wide assays and analytical approaches to facilitate this work.

Our current work moves from DNA methylation and histone states to transcription factors, cell signalling, and the interaction with DNA sequence variation in the non-coding genome.

Current projects

• Identification of functional non-coding variants (FNCVs) in CD4+ T lymphocytes from a large human cohort, using molecular QTL and ChromBPNet studies
• Identification of FNCVs using a novel analytical approach testing DNA methylation data from long-read sequencing
• Identification of the role of SOX10 as a master regulator of transdifferentiation trajectories that form myofibroblasts
• New insights into the effects of endocrine-disrupting chemicals in adipogenesis
• A polycreodism mechanism for osteoporosis due to FNCV effects on non-canonical Wnt signaling during mesenchymal stem cell differentiation
• The dysregulatory properties of de novo variants in glutamatergic neurons in individuals with neurodevelopmental disorders.

New York Center for Rare Diseases (NYCRD) research

• Novel analytical approaches to enhance phenotyping of rare disease patients
• Development of innovative DNA sequence variant analytical techniques
• CRISPR editing in stem cells to introduce and test disease-causing variants
• As part of our ADREI work, to identify FNCVs in thoracic aortic aneurysm tissue