Genetics, PhD; MD – (Ph.D.)

PhD and MD supervision is normally available in the following areas:

Cancer genetics and genome instability: research includes a major clinical trial for chemoprevention of colon cancer; genetic analyses of neuroblastoma susceptibility; research into Wilms Tumour (a childhood kidney cancer) and studies on cell cycle regulation and genome instability.

Cardiovascular genetics and development: we use techniques of high-throughput genetic analyses to identify mechanisms whereby genetic variability between individuals contributes to the risk of developing cardiovascular disease. We also use mouse and zebrafish and stem cell models to understand the ways in which particular gene families' genetic and environmental factors are involved in the normal and abnormal development of the heart and blood vessels.

Complex disease and quantitative genetics: large-scale studies into the genetic basis of common diseases with complex genetic causes, for example autoimmune disease, complex cardiovascular traits and renal disorders, is a major theme. We are also developing novel statistical methods and tools for analysing this genetic data.

Developmental genetics: study of genes known (or suspected to be) involved in malformations found in newborn babies. These include genes involved in normal and abnormal development of the face, brain, heart, muscle and kidney system. Includes the use of knockout mice and zebrafish as laboratory models.

Gene expression and regulation in normal development and disease: research into how gene expression is controlled during development and misregulated in diseases, including the roles of transcription factors, RNA binding proteins and the signalling pathways that control these. Studies of early human brain development, including gene expression analysis, primary cell culture models and 3D visualisation and modelling.

Genetics of neurological disorders: Identification of genes that in isolation can cause neurological disorders, molecular mechanisms and treatment of neurometabolic disease, complex genetics of common neurological disorders including Parkinson's disease and Alzheimer's disease. The genetics of epilepsy.

Kidney genetics and development: kidney research focuses on atypical haemolytic uraemic syndrome (aHUS), vesicoureteric reflux (VUR), cystic renal disease and nephrolithiasis to study renal genetics. The discovery that aHUS is a disease ofcomplement dysregulation has led to a specific interest in complement genetics.

Mitochondrial disease: investigation of the role of mitochondria in human disease, nuclear-mitochondrial interactions in disease, the inheritance of mitochondrial DNA heteroplasmy, and mitochondrial function in stem cells.

Neuromuscular genetics: The Neuromuscular Research Group has a series of basic research programmes looking at the function of novel muscle proteins and their roles in pathogenesis. Recently developed translational research programmes are seeking therapeutic targets for various muscle diseases.

Stem cell biology: research on human embryonic stem (ES) cells, germline stem cells and somatic stem cells. ES cell research is aimed at understanding stem cell pluripotency, self-renewal, survival and epigenetic control of differentiation and development, including the functional analysis of genes involved in germline stem cell proliferation and differentiation. Somatic stem cell projects include programmes on umbilical cord blood stem cells, haematopoietic progenitors, and limbal stem cells.