- Consultant Physician
The regulation of gene expression during erythropoiesis
Our laboratory is interested in the general question of how mammalian genes are switched on and off during lineage commitment and differentiation. We study genes (e.g. globin) in detail and also study gene expression using genome wide analyses. 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 imaging techniques. These studies are performed both in cell systems and in model organisms as well as in human patients with various inherited and acquired genetic and epigenetic abnormalities. The translational goal of this 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.
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Scott C. et al, (2022), British journal of haematology
The eha research roadmap: normal hematopoiesis
Jaffredo T. et al, (2021), HemaSphere, 5
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
Bozhilov YK. et al, (2021), Nature Communications, 12
Publisher Correction: The relationship between genome structure and function.
Oudelaar AM. and Higgs DR., (2021), Nat Rev Genet
Testing the super-enhancer concept.
Blobel GA. et al, (2021), Nature reviews. Genetics