Medical Genetics

BIOGRAPHY

Qualifications:

BSc (1st Hons), MB ChB (Hons), MD, FRCP, FMedSci

Research:

My research interests are centred around using human genetic disorders to understand molecular mechanisms of human disease. Thus by determining the genetic basis of rare single gene disorders it is possible to gain insights into the molecular basis of more common non-inherited diseases and ultimately, to develop targeted therapeutic interventions. Current research interests include familial cancer syndromes (e.g. von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, familial renal cell carcinoma and inherited susceptibility to phaeochromocytoma), genomic imprinting and epigenetics (Beckwith-Widemann syndrome and epigenetics of human cancer) and the identification of functional investigation of autosomal recessive disease genes (see National Autozygosity Mapping Resource).