My research career has been devoted to human molecular genetics, with a particular interest in the molecular genetics of epithelial diseases including cystic fibrosis (CF) and aspects of epithelial cell biology relevant to cancer. My group is one of the very few worldwide that, over the past many years, has remained funded and committed to elucidating the mechanisms that confer tissue-specific and temporal regulation on the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which when mutated causes Cystic Fibrosis.
In work that is summarized here, we made substantial advances in determining the mechanisms of regulation of CFTR and are now using this information to develop new therapeutic approaches for CF. Our latest work builds on our knowledge of CFTR regulation, to focus on transcriptional networks that coordinate gene expression genome-wide in primary human epithelial cells from airway and male genital ducts. We are applying state-of-art genomics technologies and functional assays to examine the cellular pathways regulated by several epithelial transcription factors. Of particular interest is the role of these proteins in epithelial disorders and how SNPs associated with disease phenotypes may impact transcription factor function.