We use state-of-the-art laboratory and computational approaches to understand how mammalian genes are switched on and off during development and differentiation and how this goes awry in human genetic diseases.
Our laboratory is interested in the general question of how mammalian genes are switched on and off during lineage commitment and differentiation. We use the most recent genomics technologies and computational approaches to study both the entire genome and individual genes in detail. We study all aspects of gene expression including the key cis-regulatory elements (enhancers, promoters and insulators), the transcription factors and co-factors that bind them, the epigenetic modifications of chromatin and DNA, and the role of associated phenomena such as chromosome conformation and nuclear sub-compartmentalisation using state-of-the-art imaging techniques. These studies are performed both in cell systems and in model organisms as well as in material from human patients with various inherited and acquired, genetic and epigenetic abnormalities. The translational goal of our work is to develop new ways to modify gene expression during blood formation with the aim of manipulating gene expression and ameliorating the clinical phenotypes of patients with a variety of blood disorders.
Hemoglobin bart hydrops fetalis syndrome consortium