Edinburgh Research Explorer

Chris Ponting

Chair of Medical Bioinformatics

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Willingness to take PhD students: Yes

Disease-causal DNA variants; ME/CFS genetics; machine learning; thymus single cell biology

Education/Academic qualification

1988Doctor of Philosophy (PhD), University of Oxford
1986Master of Science, University of British Columbia
1983Bachelor of Arts, University of Oxford

Area of Expertise

Research expertiseFunctional genomics, ME/CFS


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 the Editorial Boards of Genome Research, Genome Biology, Human Molecular Genetics, Annual Review of Genomics and Human Genetics, Trends in Genetics, and eLife. He served as Program Committee member for the CSHL Biology of Genomes, American Society of Human Genetics and Genome Science conferences, and on the Wellcome Science Panel (2018- ). He was the founding Director of CGAT (www.cgat.org), an MRC-funded training centre, and leads the Edinburgh Cross-Disciplinary Fellowship programme (xdf.training). Professor Ponting is a Fellow of the Academy of Medical Sciences, Fellow of the Royal Society of Edinburgh and 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 thus sits at the intersection between disease genomics, computational biology and experimental determination of molecular mechanism. 

Our current research projects are four-fold:

(1) ME/CFS. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a chronic disease associated with high levels of disability and poor quality of life. It affects an estimated 250,000 people in the UK, who often face stigma because of misconceptions. Despite its high cost to patients, the economy and the NHS, we know less about the causes of ME/CFS and how to treat it effectively than we do about many rarer and less disabling diseases. Chris Ponting is the Principal Investigator of the DecodeME genetics study (https://www.decodeme.org.uk/) which is recruiting 20,000 people with ME.

(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) lncRNAs. Funded by a Wellcome Investigator Award we 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.

(4) Single cell genomics. With Prof Georg Hollander, Jeanette Baran-Gale is developing new analytical and experimental approaches for understanding the biology of single thymic epithelial cells.

The group also includes Luis Sanchez-Pulido who has substantial expertise in the prediction of molecular function and structure from the identification of very divergent homologues.

Highlighted research outputs

  1. Hexa-Longin domain scaffolds for inter-Rab signalling

    Research output: Contribution to journalArticle

  2. G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

    Research output: Contribution to journalArticle

  3. A transcriptomic atlas of mouse neocortical layers

    Research output: Contribution to journalArticle

  4. Initial sequencing and analysis of the human genome

    Research output: Contribution to journalArticle

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