MRC Clinician Scientist and Honorary Consultant Haematologist
I am a clinician scientist with a specialist interest in haemopoietic stem cell transplantation, genome editing, genomics and bioinformatics. I studied medicine at Oxford University before going on to complete specialist training in haematology and intensive care medicine in London. At present I have an MRC Clinician Scientist Fellowship and I am setting up a group at the Weatherall Institute of Molecular Medicine. In addition, I am an honorary consultant haematologist with the allogeneic transplant service in Oxford.
My research focuses on developing novel next generation sequencing-based methods for interrogating how the genome functions and leveraging this to develop methods of genome editing bone marrow derived stem cells. I have a particular interest in developing methods that allow the physical structure of DNA in the nucleus to be defined. With Jim Hughes and Doug Higgs I developed the Capture-C method. This technique lead to insights into how genes are controlled and I was awarded the RDM Graduate Prize for this project. I am also interested in using genome editing of bone marrow derived stem cells to treat disease. In particular, I am using my previous expertise in bioinformatics to and high throughput sequencing to develop new ways of defining off target effects from genome editing.
An integrated platform to systematically identify causal variants and genes for polygenic human traits
Downes D. et al, (2019)
Single cell analysis of bone marrow derived CD34+ cells from children with sickle cell disease and thalassemia.
Hua P. et al, (2019), Blood
The bipartite TAD organization of the X-inactivation center ensures opposing developmental regulation of Tsix and Xist.
van Bemmel JG. et al, (2019), Nat Genet, 51, 1024 - 1034
Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains.
Oudelaar AM. et al, (2018), Nat Genet, 50, 1744 - 1751
Expression of the Human Alpha-Globin Cluster in the Absence of the Major Regulatory Element Mcs-R2
Badat M. et al, (2018), BLOOD, 132