Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
- Professor of Molecular Medicine
- ICH Development Bio & Cancer Prog
- Institute of Child Health
- Faculty of Pop Health Sciences
Our goal is to elucidate the genetic and developmental basis of congenital malformations. The majority of our work is focussed upon cardiovascular development, with additional interest in renal, brain and limb development. Previous and current work indicates that analysis of human congenital malformation can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11 causing DiGeorge syndrome is the greatest known genetic risk factor for schizophrenia. Clinical and diagnosis and prognosis can be improved, and in some cases there is the prospect of new therapeutic intervention. Three genes under investigation (Tbx1, Chd7 and Hira) have roles in control of transcription within progenitor or stem cell populations. Others, e.g. Semaphorins, Slits, and CXCL12 are involved in intercellular signalling.
The tools used include creation and analysis of models in mouse and zebrafish, and the use of cell line models such as modified embryonic stem cells and neural crest cells. We explore novel methods of imaging the phenotypes observed (in collaboration with UCL's CABI).
In humans, genetic approaches include high resolution, genome-wide, screens and sequencing, in particular making use of consanguineous families. We also collaborate across non-life science faculties via the CoMPLEX programme.
I manage two 4 year PhD programmes funded via the British Heart Foundation. One is run through UCL CoMPLEX and is specifically designed to bring non-life scientists and cardiovascular biologists together for innovative projects. The first year of this course is essentially the same as that for all CoMPLEX students.
The second is for more standard, biologically orientated PhDs. The first year is run alongside the UCL-ICH MRes scheme.
|1986||MD||Doctor of Medicine – Molecular Genetics||University of Manchester|
|1982||MB.ChB||Bachelor of Medicine, Bachelor of Surgery – Clinical Medicine||University of Manchester|
|1979||BSc Hons||Bachelor of Science (Honours) – Medical Biochemistry||University of Manchester|