The remit of my research is to improve outcome for patients with acute leukaemia through genetics in UK treatment trials, by characterisation of existing and discovery of novel genetic changes. I have over 30 years’ experience in planning and leading research activities of national/international repute in the area of cytogenetics/genetics of haematological malignancies. I was responsible for the initiation of a database for the cytogenetics of acute leukaemia in 1988, when the importance of chromosomal abnormalities in risk stratification for treatment was becoming evident. This has now developed into a large-scale collection of cytogenetic and genetic data, containing information on more than 28,000 UK patients, which is renowned to be one of the best leukaemia genetics research resources in the world. Some of the most recent analyses from these data have identified new cytogenetic-based risk categories in childhood and adult acute leukaemia, which have resulted in changes in clinical practice.
I have a passion for the development of new technologies. In the 1980’s, I pioneered studies on the scanning electron microscopy of metaphase chromosomes to provide increased resolution for detailed analysis at the structural level. The demand for images from these investigations continues to this day.
From studies on deletions of the long arm of chromosome 6 (6q) in acute leukaemia, I was one of the early pioneers of chromosome mapping using fluorescence in situ hybridisation (FISH)
I was responsible for the development of FISH for the detection of chromosomal abnormalities of prognostic significance in UK acute leukaemia clinical treatment trials. FISH is now used routinely in UK and has been adopted into trial protocols in Europe and internationally. This approach led to the discovery of novel chromosomal abnormalities for which modified treatment has significantly improved survival.
Within my group we provided early development of procedures for array-based comparative genomic hybridisation (aCGH) in acute leukaemia, which now is widely used for the detection of chromosomal imbalances, not only in leukaemia but a wide range of other cancers. Using this in association with other procedures, we have identified novel chromosomal abnormalities with potential as molecular targets for therapy. My current interests involve the application of next-generation sequencing to search for novel significant mutations in acute leukaemia, and understanding the mis-segregation mechanisms that result in complex genetic changes in this cancer. Understanding of the role of genetics in the improved survival of leukaemia patients is my ultimate aim.