New genetic data offers unprecedented resource for health research

11/03/2019

New genetic data offers unprecedented resource for health research

New genetic data from 50,000 people has today (11 March) become available for health researchers, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery.

The new tranche of UK Biobank exome sequence data is available for the global health research community, consistent with the founding principles of UK Biobank – a major national resource for health research, funded primarily by UK Research and Innovation’s Medical Research Council (MRC) and the Wellcome Trust.

UK Biobank recruited 500,000 people aged between 40-69 years in 2006-2010 from across the country to take part in this project. They have undergone measures, provided blood, urine and saliva samples for future analysis, detailed information about themselves and agreed to have their health followed.

Over many years this will build into a powerful resource to help scientists discover why some people develop particular diseases and others do not.

This latest data was generated at the Regeneron Genetics Center through a collaboration between UK Biobank, Regeneron (US) and GSK (UK) and are linked to detailed health records, imaging and other health-related data.

The data is available for the global health research community to use. It follows a brief exclusive research period for Regeneron and GSK. Additional tranches of data will similarly be released over the next two years.

All sequencing and analyses activities are undertaken on a de-identified basis, with the utmost consideration and respect for participant privacy and confidentiality principles.

Regeneron is also leading a consortium of biopharma companies (including Abbvie, Alnylam, AstraZeneca, Bristol-Myers Squibb, Biogen, Pfizer and Takeda) to complete exome sequencing of the remaining 450,000 UK Biobank participants by 2020. In addition, GSK has committed a £40 million investment to initiatives, such as UK Biobank, that harness advances in genetic research in the development of new medicines.

This major enhancement to UK Biobank would have been unimaginable when the study began recruiting participants in 2006. It makes it one of the most important studies of population health in the world. The initiative represents huge leverage of the public and charity investment that has supported UK Biobank up to this point; the costs of such a project would have been prohibitive had UK Biobank had to raise the funding itself.

Professor Fiona Watt, Executive Chair of MRC, says: “UK Biobank was established to do science in new ways. Industry has led the way on this exome sequencing project and the fruits of that work mean UK Biobank can now deliver important genetic data that would otherwise not be available to researchers.”

The exome makes up 1-2% of a human genome and contains the protein-coding genes. It is this area that scientists believe has most relevance for discovering genetic variants that may inform the discovery and development of new and improved medicines. The exome sequencing work supports other UK Biobank genetics analyses under way, including whole genome sequencing of 50,000 participants funded by UK Research and Innovation as part of the Industrial Strategy Challenge Fund.

Further information

UK Biobank is a major national resource for health research, with the aim of improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. Read more on the MRC website.


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