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Chris Ponting Blogs

M.E./CFS Epidemiology and Genomics Alliance (MEGA)
United Kingdom

Oct 20, 2016 — 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.

"Multi-omics is the study of multiple genome-scale, often population-based, data sets and it lies at the heart of modern biomedical science. We are interested in carefully linking DNA variants to changes in molecules, processes, cells, organs and individuals. To do so we analyse high-throughput DNA, RNA abundance, DNA-binding, and phenotype (both human and model organism) data from primary tissues as well as from cell lines and single cells. One focus of our research is on genes that are not used to make protein – so called long noncoding RNAs – particularly those that modulate mitochondrial function in different cells and tissues. Other projects are investigating the biology of single cells, specifically neurons, glia and thymic epithelial cells.

CFS/ME researchers are in need of hypotheses about disease initiation and progression that are founded upon robust and reproducible data. Until then, it will be important first to apply the predictive power of population genetics, and then to generate experimentally testable hypotheses using functional genomics. Population genetics is key. This is because only it can provide definitive evidence on how susceptibility of CFS/ME is inherited which then should provide clues about what physiological processes have become dysfunctional and in what cells. Functional genomics – which includes multi-omics – is a toolkit used to investigate a wide-ranging set of hypotheses. I would be keen to apply my group’s long-standing computational and experimental experience in these areas to defining the molecular pathology of CFS/ME."


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