Two leading research groups at the University of Oxford will use Population Genetics Technologies to enable studies on gene variants associated with myocardial infarction, diabetes and metabolic disease.
The first two Oxford studies to exploit this agreement are led by Mark McCarthy, Robert Turner Professor of Diabetes at the Oxford Centre for Diabetes, Endocrinology and Metabolism, and David Buck, Head of High Throughput Genomics at the Wellcome Trust Centre for Human Genetics (WTCHG).
The McCarthy group will work in partnership with Population Genetics on a population study of 74 exons from 12 genes across a population of 1000 genomic DNA samples to identify genetic associations with diabetes and metabolic disease, using the company’s GenomePooling™ technology.
The studies will also inform a wider initiative led by the National Institute for Health Research (NIHR) to establish an NIHR BioResource of volunteers willing to participate in research that will map genotype to phenotype.
The Buck group, in collaboration with PROCARDIS, will use Population Genetics’ Reflex™ workflow to interrogate 3000 samples and identify genetic variants of candidate genes associated with myocardial infarction.
Based on the work of one of the company’s founders, Nobel Laureate Sydney Brenner, GenomePooling™ allows multiple genes and discontiguous regions of DNA, such as those identified by genome-wide association studies, to be simultaneously sequenced across entire populations quickly and cost-effectively while still being queriable down to the level of the individual.
Reflex™ also focuses on large populations but is used where the target is a single large contiguous region such as a whole gene.
Commented Mark McCarthy: “Population Genetics gives us an efficient way to validate hypotheses through identification of variants in candidate genes associated with common human diseases. This partnership will make a valuable difference in our ability to progress our studies towards clinical application.”
Alan Schafer, CEO of Population Genetics, said: “We are pleased by the recognition given to our capability and to our enabling technologies, demonstrated in the formation of the partnerships with researchers as esteemed as Mark McCarthy and David Buck. We look forward to providing key capability to them and to others at the University of Oxford that will help advance genetic research towards clinical application.”