Research Interests

Decipher Project

I work as part of Core Software Services at the Sanger Institute where I have research interests in the Decipher project which investigates pathological variants in rare chromosomal disorders. I am also part of the Deciphering Developmental Disorders Study that is affiliated with the Decipher project. Prior to this I was a research scientist working in the Departments of Medical Genetics and Clinical Biochemistry at the University of Cambridge where I had two major research interests.

Receptor Tyrosine Kinase Signal Transduction

My research interests centred on the molecular and cell biology of the signalling events generated by the tyrosine kinase receptors for insulin, insulin-like growth factor-I and epidermal growth factor. For all receptors to achieve their biological effects, following ligand binding, two considerations are imperative, the duration of each step in the activation process and the correct subsequent subcellular localisation of the intracellular signalling elements. Following binding of their cognate ligands, activated receptors are internalised into endosomes. It may be within endosomes that the duration of the signal generated and much of the specificity is realised, since receptor deactivation (as defined by ligand dissociation and subsequent degradation by proteases, as well as receptor dephosphorylation by protein-tyrosine phosphatases) is initiated here and in many cases also completed.

Autosomal Dominant Polycystic Kidney Disease

My research interests centred on the molecular and cell biology of the signalling events and function of polycystin 1 and 2 in the common genetic condition autosomal dominant polycystic kidney disease (ADPKD). This disease affects approximately one in 600 people worldwide resulting in bilateral renal tubular cyst formation and eventually renal failure. Polycystin 1 mutations account for 85% of all ADPKD cases and is an eleven membrane spanning protein of 4302 amino acids of as yet unknown function. Polycystin 2 is a 968 amino acid protein having 6 membrane spanning domains. Again its function is not known.

Personal Interests

Some of my spare time is spent researching the history of All Saints' church Wickhambrook. I enjoy theatre, playing guitar and am keenly interested by the county of Suffolk; its countryside and buildings. My profile at Delicious gives a few more hints on my likes.

Last Modified Sunday 27 December 2015