Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Tim Aitman Research Group

Diagnosis of rare recessive disease by exome sequencing

Professor Tim Aitman - Director: CGEM, Chair of Molecular Pathology and Genetics

Director: Centre for Genomic & Experimental Medicine

Section Head: Genomic Medicine

Research in a Nutshell

The Aitman lab’s research combines the use of classical genetics with modern cutting edge genome technologies such as whole-genome-sequencing and epigenome analysis to unravel the genetics of both common and rare human disorders. These include common syndromes of insulin resistance that predispose to diabetes and heart disease, and autoimmune diseases such as systemic lupus. The combined use of linkage analysis and microarray-based expression profiling led to identification of genes predisposing to insulin resistance (Cd36) systemic lupus (Fcgr3) and cardiac hypertrophy (Ogn). The Aitman lab also led the sequencing and the first evolutionary analysis of rat genomes, identifying artificial selection pressures underlying any disease phenotype.

In the clinical setting, the group has used next generation sequencing to detect the genetic basis of NHS patients with a range of rare diseases including familial hypercholesterolaemia, Ehlers Danlos Syndrome, nephrotic syndrome, thoracic aortic aneurysm and motor neurone disease.

In collaboration with the CRUK Edinburgh Centre, the Genome Medicine Group is developing new methods for analysis of cell-free DNA, for diagnosis and stratification of cancer. Integrated use of high throughput sequencing and digital droplet PCR, for analysis of somatic mutations and epimutations specific to breast, ovarian and colorectal cancer, will aim to provide enhanced diagnostic molecular markers in early and late-stage cancer.

Research Programme


The Aitman group


Professor Tim Aitman  Group Leader
Adam Jackson Research Manager

Louise Pert

PA to Tim Aitman and Centre Administrator
Martyna Adamowicz Senior Postdoctoral Scientist
Sophie Marion de Procé Postdoctoral Scientist

Prasun Dutta

Postdoctoral Scientist
Sophie Warlow Research Assistant
Lara Carey Research Assistant




  • Professors Siddharthan Chandran and Colin Smith, University of Edinburgh
  • Professors Margaret Frame, Charlie Gourley and Dr Olga Oikonomidou, University of Edinburgh
  • Professor Mary Porteous, NHS Lothian and University of Edinburgh
  • Professor John Mullins, University of Edinburgh
  • Professors Josef Penninger, Institute of Molecular Biotechnology, Vienna and Michael Schneider, Imperial College, London
  • Professors Andrew Biankin, University of Glasgow and Zofia Miedzybrodzka, University of Aberdeen
  • Professors Mark Arends and Simon Herrington, University of Edinburgh
  • Professor Colin Semple, University of Edinburgh

Partners and Funders

  • Medical Research Council (MRC)
  • Scottish Chief Scientist Office (CSO)
  • European Research Council (ERC)
  • CRUK Edinburgh Centre
  • AstraZeneca
  • Illumina
  • Biogen

Scientific Themes

Genetics, genomics and epigenetics of common and rare diseases

Technology Expertise

Whole genome, transcriptome and epigenome sequencing, genome informatics, biomarker discovery