Molecular genetics

Understanding the molecular basis of DNA repair is of fundamental interest, but it is equally important to apply this knowledge to the benefit of mankind.

The expertise gained from our studies on DNA base pairing was used in the emerging field of molecular genetics to develop new methods of mutation analysis. In collaboration with AstraZeneca we invented a novel fluorescence-based real-time PCR method for the identification of mutations in the human genome. This was one of the first successful technologies for rapid mutation detection and was patented, published (View paper) and marketed as "Scorpion Primers" by Qiagen, a spin-out from AstraZeneca working in the field of cancer diagnostics. Our publications on Scorpions have received around 450 citations but more importantly this technology has recently had a major impact in the clinic. Scorpions are now being used to detect mutations in oncogenes associated with drug response, providing an essential aid to doctors and drug companies in selecting safe and effective anti-cancer therapies (personalised medicine). This new approach ensures that treatment is geared to the individual patient and is modified as changes occur in the genetics of the cancer. It is likely to revolutionise cancer therapy.

I am also co-inventor of "HyBeacons", novel fluorogenic probes that utilise DNA melting temperature as a means of identifying mutations. HyBeacons, the result of collaboration with the Laboratory of the Government Chemist, have recently been licensed to an International Biotech company. They are being developed for the rapid diagnosis of bacterial infections and genetically-related diseases, and also for Forensic applications (View New Scientist article). We recently demonstrated that such methodology has potential for rapid human identification at crime scenes and in custody suites, with clear implications for crime prevention (View paper, View paper).

My research on genetic and biophysical analysis of DNA is based on the development of novel oligonucleotide analogues, a field in which I have a strong background (e.g. , and View paper). Collaboration with Philip Bartlett in Southampton in the field of DNA sequence analysis has taken this one step further, producing a new method for identifying mutations in the human genome using a combination of SERS detection and electrochemical DNA melting (View paper).