Institute of Genetic Medicine

Complex Disease & Quantitative Genetics

Complex Disease and Quantitative Genetics

We aim to increase our understanding of the genetic basis of common complex diseases.

We want to develop new and innovative strategies for their:

  • prevention
  • prognosis
  • treatment

Our research

Research activities of this group encompass:

  • the identification of novel susceptibility genes
  • assessing how our genetic make-up and environment shape gene regulation through epigenetic mechanisms
  • developing statistical and analytical strategies for dealing with ever-increasing complexities of genomic data
  • assimilating this knowledge into the development and evaluation of new treatments

The latter involves the clinic and improvements in the quality of advice we can give to patients.

Our group

Group members work on a diverse range of common diseases, including:

  • cancer
  • mitochondrial disorders
  • Crohn's disease and ulcerative colitis
  • kidney disease
  • cardiovascular disease
  • obesity and type 2 diabetes


Our research utilises world class laboratory facilities within the Institute of Genetic Medicine.

It applies a spectrum of molecular genetics techniques. These couple with advanced bioinformatic and biostatistical capability.

The group adopts many approaches. These include:

  • conventional genetics (family and population-based studies)
  • transcriptomic applications
  • epigenomic applications
We deal with ever-increasing complexities of genomic data.
We deal with ever-increasing complexities of genomic data.

Key researchers

Professor John Burn - aspects of clinical genetics: heart malformation, cancer prevention and neurodegeneration
Professor Heather Cordell - development of statistical methodology for detection and characterisation of genetic factors in complex disease
Dr Joanna Elson - mtDNA variation, disease and evolution
Dr Mike Jackson - genome instability and the genetics of neuroblastoma
Professor Tim Goodship - genetics of atypical haemolytic uraemic
Dr John Mansfield - Crohn’s disease and ulcerative colitis
Professor Simon Pearce - autoimmune endocrine disease and subclinical hyperthyroidism
Dr Neil Rajan - dermatogenetics with an interest in inherited cutaneous tumour syndromes
Dr Mauro Santibanez-Koref - using allelic expression differences to ascertain cis-acting functional polymorphisms
Dr Ian Wilson - development of statistical methods for population genomic data
Dr Gavin Hudson - the role of the mtDNA variation in complex disease