Edinburgh Research Explorer

Prof Chris Ponting

Chair of Medical Bioinformatics

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Professor Chris Ponting is Chair of Medical Bioinformatics and a Principal Investigator at the MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine. Chris started his research in particle physics before moving via biophysics to bioinformatics and genomics. Aside from one year at the National Centre for Biotechnology Information (NIH, Bethesda, MD), he pursued his research at the University of Oxford before moving to Edinburgh in 2016. His research group has made substantial contributions to protein science, evolutionary biology, genetics and genomics. Early in his career he discovered many important protein domain families. He then provided the first evolutionary analyses for mammalian genomes whilst leading protein analysis teams for the human and mouse genome sequencing projects. More recently, his research established that 8.2% of the human genome is constrained, and thus is likely functional.


Chris has been on Editorial Boards of Genome Research, Genome Biology, Human Molecular Genetics, Annual Review of Genomics and Human Genetics, and Trends in Genetics, and was a Senior Editor of eLife until 2015. He served as Program Committee member for the CSHL Biology of Genomes, American Society of Human Genetics and Genome Science conferences. He has been Head of the UK Node of ELIXIR since its inception, Chairs EMBL-EBI’s External Training Advisory Group and founded CGAT (www.cgat.org), an MRC-funded training centre. Professor Ponting is a Fellow of the Academy of Medical Sciences and a Member of the European Molecular Biology Organisation.

Research Interests

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. 


Our current research projects are three-fold:

(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. Our computational and evolutionary studies are forcing a reconsideration of the extent and importance of transcribed noncoding DNA in the human genome.

(2) Disease genomics. We use RNA-Seq and ChIP-Seq approaches at the human population level to explore the genetic control of expression and its contribution to disease susceptibility.

(3) Single cell genomics. Together with the Sanger-EBI Single Cell Genomics Centre, 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 (WT Strategic Award with Prof Georg Hollander).

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.


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