Translation Award supports new technology to accelerate genome studies
14 October 2010
Genetic studies that sift the entire human genome for disease-predisposing genes have emerged as a powerful tool, but they are expensive to perform and so are often limited to large, well-funded laboratories or consortia. Also, they will often only pick up the common versions of a gene that increase the risk of a disease and not the more rare versions. To detect rare variants, very large numbers of well characterised individuals need to be studied, which drives up the cost of such studies even more.
PopGenTech has developed a new technology that will dramatically reduce the costs of performing large-scale population studies, while allowing the detection and characterisation of rare genetic variations that are associated with disease. The Translation Award from the Wellcome Trust will be used to validate this technology by screening patients with Alzheimer’s disease for specific genes that were identified in recent large-scale, genome-wide analyses by Cardiff University and its collaborators.
The new study will use DNA samples from populations of patients with Alzheimer’s, selected by scientists led by Professor Julie Williams at the Cardiff University MRC Centre for Neuropsychiatric Genetics and Genomics. The work will focus on genetic regions that involve pathways believed to have an influence on the pathology of the disease.
As well as validating the technology, the results are expected to reveal new information on previously undetected rare genetic variants. Such rare variants could not only suggest possible targets for the development of future therapies but could potentially provide additional biomarkers for diagnosing predisposition to the disease and, when appropriate, guiding treatment strategies.
Commenting on the award Mel Kronick, President and CEO of PopGenTech said, "We are grateful to the Wellcome Trust for this award and excited about working with Professor Julie Williams and her team to elucidate the involvement of rare allelic variants in the development and progression of this important disease. We are very happy to be applying our proprietary technologies to studies that, until now, have been virtually impossible in most labs for reasons of time and cost. Following as it does a recent UK National Health Service award for the study of breast cancer, this study further illustrates the benefit that our approaches can bring to clinical and pharmacogenetic research programmes."
Ted Bianco, Director of Technology Transfer at the Wellcome Trust, added: "PopGenTech's technologies have the potential to greatly reduce the cost of large-scale genetic studies, making them a more feasible option for more laboratories. We are pleased to support this project and we hope that it will help to accelerate discovery in this important area of research, to ultimately improve our understanding of the genetics of disease."
If the study proves successful, it is hoped that the technology will make a significant impact on the future of personalised medicine, by accelerating the discovery and identification of biomarkers that could aid diagnosis and inform treatment strategies for a range of inherited diseases.
Image courtesy of the Sanger Institute/ Wellcome Images