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. lncRNAs. We have been funded by a Wellcome Trust 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.
  2. 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 funded as part of MRC Core funding.
  3. Single cell genomics. Together with Thierry Voet of the Sanger-EBI Single Cell Genomics Centre, of which Ponting is a founding member, we are developing new analytical and experimental approaches for understanding the biology of single cells. One application of this technology is the transcriptomic analysis of single thymic epithelial cells (Wellcome Trust Strategic Award jointly held with Prof Georg Hollander, Oxford). The ability to sequence, using G&T-Seq, both the DNA and RNA from the same single cell now allows genotype-phenotype relations to be inferred for each cell from among a heterogeneous mixture of cells. This will be most useful when tracing the transcriptional consequences of mutations introduced across cancer cell lineages.

The group also contains substantial expertise in the prediction of molecular function and structure from the identification of very divergent homologues, and is interested in enhancing training capacity and capability in the UK and Europe.


Research Programme


C.Ponting group



Professor Chris Ponting Group Leader
Jeanette Baran-Gale Research Fellow

Oscar Bedoya Reina

Research Fellow

Neil Clark

Research Fellow

Yan Lee

PhD Student
Katie Nicoll Baines Research Fellow

Sebastian Rogatti Granados

Research Assistant

Luis Sanchez-Pulido

Research Fellow

Tamara Sirey

Investigator Scientist

Claire Smillie

Research Fellow




  • Professor Malcolm Dunlop & Dr Susan Farrington, University of Edinburgh 
  • Professor Neil Henderson, University of Edinburgh
  • Professors John Marioni & Thierry Voet, Wellcome Trust Sanger Institute 
  • Professor Georg Hollander, University of Oxford

Partners and Funders

Scientific Themes

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

Technology Expertise

Single cell biology