A new centre will aim to identify thge molecular mechanisms linking genetics and disease. Image The UKRI's MRC has awarded £5 million Professor Kenneth Baillie and team to establish the EMMC, which will aim to identify the molecular mechanisms linking genetic associations and disease. EMMC is a targeted molQTL discovery programme with the vision generate quantitative, disease-relevant, functional genomic data to take genetic associations past the evidentiary threshold for therapeutic testing in patients. EMMC is led by scientists from across the University of Edinburgh including the Centre for Inflammation Research, Roslin Institute, Centre for Clinical Brain Sciences, Centre for Genomic and Experimental Medicine, MRC Human Genetics Unit, and the Baillie Gifford Pandemic Science Hub. There is a critical gap in translation of genetic associations into therapeutic insights: molecular mechanisms. Finding molecular quantitative trait loci (molQTL) can fill this gap. molQTL are genetic regions that affect a molecular event such as how much of a given RNA or protein is expressed. Finding disease-relevant molQTL requires us to look in the right cells and states. EMMC will do this by examining single cells of several disease-relevant human tissues (brain, lung, blood and skin) in a number of states or perturbations to identify the molecular consequences of variation at genetic loci associated with human diseases. Publication date 25 Mar, 2024
