Prof Chris Ponting is Chair of Medical Bioinformatics and a Principal Investigator at the MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine.
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 non-coding 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.
ME/CFS 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 ME/CFS 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 ME/CFS.