MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Chris Ponting Research Group

Computational and Disease Genomics

Section Head: Biomedical Genomics

Professor Chris Ponting - Section Head: Biomedical Genomics, Chair of Medical Bioinformatics
Professor Chris Ponting - Section Head: Biomedical Genomics, Chair of Medical Bioinformatics

Research in a Nutshell 

The challenge in genomics is to identify DNA changes that predispose individuals to common disease; the challenge in genetics is to determine how these changes alter gene expression programmes; and, the challenge in cell biology is to find out how these altered programmes affect development, cells and organs. Our research uses cutting-edge technologies and analytical approaches in genomics, transcriptomics, and cell biology to trace the causal links from DNA change to physiological outcome. This research is thus positioned at the intersection between disease genomics, computational biology and experimental determination of molecular mechanism.   

We are currently pursuing three research projects:

  1. Disease genomics. We use functional genomics approaches at the human population level to explore the causal chain linking DNA sequence variation with altered transcription factor binding, and thereon with changes in gene expression levels. Our intent is to use newly developed technological and analytical approaches to add one last link in the chain, namely how genetic control of expression contributes to complex disease susceptibility. This research is part of MRC Core funding.
  2. ME/CFS Genetics. Funded by MRC and NIHR, we are part of DecodeME, the world’s biggest genetic study of the causes of ME/CFS. This project is a co-production between academics, people with ME and carers. We also are investigating whether people with ME differ in their T-cell repertoire from healthy controls (funded by Action for M.E. and the Scottish Government’s Chief Scientist’s Office).
  3. lncRNAs. We are funded by a Wellcome Investigator Award to investigate the molecular mechanisms of long noncoding RNAs (lncRNAs) in modulating mitochondrial function. More specifically, we use computational and experimental approaches to study many lncRNAs which, through their direct binding to microRNAs, modulate the abundance of transcripts encoding key mitochondrial proteins. We have shown that by altering the levels of these transcripts we can change catalytic rates in the oxidative phosphorylation pathway.
  4. Single cell genomics. With Prof Georg Hollander, we are undertaking transcriptomic analysis of single thymic epithelial cells to discover how they express nearly all protein-coding genes.


Research Programme

Chris Ponting group 4.2019


Professor Chris Ponting Group Leader

Øyvind Almelid

Research Fellow
Jeanette Baran-Gale Research Fellow
Talitha Bromwich Research Fellow

Neil Clark

Research Fellow
Joshua Dibble PhD Student
Louise Docherty Research Fellow
Olympia Gianfrancesco Research Fellow
Cath Heath Research Fellow
Abel Jansma  PhD Student

Yan Lee

PhD Student
Stephanie MacMaster Research Assistant
Lucy Martin Research Fellow

Sebastian Rogatti Granados

Research Assistant

Luis Sanchez-Pulido

Research Fellow

Tamara Sirey

Investigator Scientist

Claire Smillie

Research Fellow
Pin Tong Research Fellow




  • Professor Georg Hollander, University of Oxford
  • Dr Ava Khamseh & Dr Sjoerd Beentjes, University of Edinburgh

Partners and Funders

  • MRC
  • Wellcome
  • NIHR
  • Action for ME/ Chief Scientist's Office, Scotland

Scientific Themes

Population genomics, long non-coding RNA mechanism, molecular mechanisms in complex disease.

Technology Expertise

Single cell biology