A new sequencing facility in Cambridge will decode 100 complete human genomes per year, a task that took an international consortium years to accomplish just a decade ago. This matters because faster, cheaper genetic sequencing is transforming medicine. The Eastern Sequence and Informatics Hub (EASIH)—a collaboration between the University of Cambridge, the European Bioinformatics Institute, the Babraham Institute, and the NHS—will provide sequencing services to over 100 researchers across 16 institutions. The consortium has secured over £4.6 million in funding and resources, with a further £2.6 million requested from the MRC. If successful, EASIH will directly support NHS clinical genetics services in diagnosing inherited diseases such as breast cancer. It will also assist the NHS in tissue typing for stem cell transplants—a critical step that currently limits transplantation success. By coordinating with other MRC sequencing hubs across the UK, the facility aims to achieve economies of scale in a rapidly moving field, bringing benefits directly to patients through improved diagnosis and treatment of genetic diseases.
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The development of even faster and less expensive ways of decoding genetic material and information, so called high throughput sequencing (HTS). HTS is transforming our understanding of how organisms work, from bacteria to humans, and how certain diseases are strongly inherited. Only a few years ago, an international consortium was able to produce a first draft of the human genome sequence after many years of effort, but now it will be possible for the proposed sequencing facility in Cambridge, the Eastern Sequence and Informatics Hub (EASIH), to resequence 100 human genomes in a year. EASIH is a consortium of collaborators from three leading academic research institutions in the Cambridge region: the University of Cambridge, the European Bioinformatics Institute and the Babraham Institute, working together with the National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre. The main HTS facility of EASIH will be housed in the Department of Medical Genetics in the newly-opened Addenbrooke?s Treatment Centre in the centre of the Cambridge Biomedical Campus. These four organisations have put together over #4.6M worth of funding and resources towards establishment and operation of EASIH, underpinning a bid to the MRC for a further #2.6M. We will be providing sequencing services to over 100 researchers in 16 different institutions within the Eastern region and beyond, within the context of a sustainable business plan. Our technologies and approaches, in collaboration with several biotechnology companies, in particular, Applied Biosystems and Roche-454, will help the NHS in tissue typing, which is an essential part of transplantation of stem cells, and in NHS clinical genetics services in the diagnosis of inherited diseases such as breast cancer. EASIH will be collaborating with the NHS National Blood Service (Colindale, London), the NHS Blood and Transplant Centre (Cambridge), and the NHS East Anglian Medical Genetics Service and Tissue Typing Laboratory in Cambridge to achieve these aims that will hopefully bring benefits directly to patients in the future. We will co-ordinate with the other MRC sequencing Hubs across the UK to work together on matters of national and international importance in the life sciences and in the diagnosis and treatment of disease, as well as seeking further economies of scale and synergies in this rapidly moving field.
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