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Hits:3700   Date: 6/19/2012
Agreement kicks off with studies by Mark McCarthy & David Buck on gene associations for diabetes, metabolic disease and heart attack
Population Genetics Cambridge, UK – 18th June, 2012 – 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 company has signed a collaboration agreement with the University of Oxford to provide university researchers with genetic analyses for hypothesis validation and biomarker discovery.
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.”
Please address all inquiries to:
Dr. Frank Massam
Chief Commercial Officer
Population Genetics Technologies
+44 (0) 1223 497359
Dr Clare Jones
Account Director
Alto Marketing
+44 (0) 1489 557672
About Population Genetics
Population Genetics Technologies Limited, on the Babraham Research Campus near Cambridge, UK, has developed novel approaches for genetic analyses and biomarker discovery, derived from the work of its co-founder, Nobel Laureate Sydney Brenner, on the rapid identification of genetic variants in large target populations. Working with researchers and clinicians the company uses its expertise and proprietary techniques to identify variation and trait association information which can then be used as a target for the development of clinical trials, diagnostics and treatment in humans as well as agronomic applications. www.populationgenetics.com
About the Wellcome Trust Centre for Human Genetics
The Wellcome Trust Centre for Human Genetics is a research institute of the University of Oxford, funded by the University, the Wellcome Trust and numerous other sponsors.  Our objective is to undertake research into the genetic basis of common conditions. Specifically, The Wellcome Trust Centre for Human Genetics aims to: identify the genes and DNA variants involved; understand how these DNA variants may contribute to risk of disease in the population; understand how such genetic factors contribute biologically to a disease process; and develop statistical and experimental tools to support these investigations. www.well.ox.ac.uk
About PROCARDIS
PROCARDIS is a European collaborative project to study the molecular genetic basis of coronary artery disease (CAD). Specifically Professors Hugh Watkins and Martin Farrall (University of Oxford) and Professor Anders Hamsten (Karolinkska Institute) are focussing on the role of rare variants in CAD susceptibility genes. www.procardis.org
About the National Institute for Health Research

The National Institute for Health Research (NIHR) provides the framework through which the research staff and research infrastructure of the NHS in England is positioned, maintained and managed as a national research facility. The NIHR provides the NHS with the support and infrastructure it needs to conduct first-class research funded by the Government and its partners alongside high-quality patient care, education and training. Its aim is to support outstanding individuals (both leaders and collaborators), working in world-class facilities (both NHS and university), conducting leading-edge research focused on the needs of patients. www.nihr.ac.uk