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Genetic insights from 50,000 people to target new health treatments


Genetic insights from 50,000 people to target new health treatments

A treasure trove of genomic data on 50,000 people will pave the way for massive steps in understanding how the genetics and life-style factors contribute to the development of conditions like diabetes and arthritis.

This information will help in the development of new targeted treatments and prevention strategies.

The £4.8 million government funding will allow the data to be examined by medical experts. The information includes the whole genome sequencing of 50,000 volunteers for the UK Biobank: a powerful resource to help scientists discover why some people develop diseases and others do not.

The investment from UK Research and Innovation (UKRI), is part of the government’s Industrial Strategy Challenge Fund (ISCF), and will pay for the  storage, and sharing of this huge data depository, which is the equivalent size of 500 billion pages of standard text. 

The project dwarfs existing UK Biobank storage and processing facilities and highlights the importance of high-tech information technology systems to deliver health research in the future.

The amount of data is extraordinary. Adding genetic information to the physical and clinical information for the participants will increase the total amount of data held by around 50 fold. Adding the complete genetic information for the the first 50,000 volunteers’ information is just the first phase what will eventually see the complete genetic make up of all 500,000 participants become available. Each participant’s data is anonymous so no one can be identified via their information.

Science Minister Chris Skidmore said: “This new facility will open up the structures of 50,000 people’s DNA to UK scientists, helping to keep our world-leading experts at the pinnacle of what is game-changing research.

“Genomic medicine has the potential to completely change the way medical experts treat every single one of us as patients in the future, adapting our care to a specific personal health plan based on our genes.

“This investment is part of our modern Industrial Strategy and will help put the UK at the forefront of the data revolution, not only to create the treatments of the future but also to create and support the highly skilled jobs of tomorrow.”

Professor Fiona Watt, Executive Chair of the Medical Research Council, one of the founding funders of UK Biobank, said: “The study of this genomic data will be of immense value to researchers, informing future methods of targeting and preventing a wide range of diseases.

“This investment illustrates how the Industrial Strategy Challenge Fund is driving improvements in our use of data and catalysing improved diagnoses and treatments for patients.”

UK Biobank samples are being sequenced by the Wellcome Sanger Institute, Cambridge. The sequencing began last year with ISCF funding of £30 million for the complete genomes of 50,000 UK Biobank volunteers. The data are due to be released in 2020. This ‘vanguard’ phase is intended to prepare for the whole genome sequencing of the remaining 450,000 participant samples over the next two to three years.

This work will ensure that the genomic data are of the highest quality to support large-scale health research.  New systems will be developed so that researchers can work with the genetic information in a secure, manageable and scalable way.  

Researchers will be able to look for common genetic differences that may be linked to disease, and investigate the impact of lifestyle, environment and other diseases. The funding will cover the cost of essential core informatics and processing provided by Seven Bridges, an international bioinformatics solutions company with offices in London.

Storage will be provided by the Cambridge-based European Bioinformatics Institute (EMBL-EBI). This award will allow EMBL-EBI to distribute the first 50,000 human genomes from UK Biobank through its data resource, the European Genome-phenome Archive.

Thomas Keane, Team Leader at EMBL-EBI, said: "The European Genome-phenome Archive is delighted to continue our collaboration with UK Biobank to enable access to the exomes and genomes that will contribute to a raft of new discoveries in human disease."

Bill Moss, Chief Executive Officer, Seven Bridges, commented: “Seven Bridges is proud to have been selected as the core informatics supplier offering bioinformatics and scientific expertise with the highest levels of data security required to process and analyse the massive amounts of data generated.”

Dr Mark Effingham, UK Biobank Chief Operating Officer, said the resource was increasingly harnessing informatics to make sure it provides the best data it can to researchers around the world. 

“Whichever way you look at it, the whole genome sequencing of UK Biobank participants is generating lots and lots of important health data,” he said. “This will provide new leads and insights for research into a very wide range of common and complex diseases.

“The scale is mind-boggling. The UK is leading health scientists into a new era of research, and these data are lighting our way.”

He added: “Technology allows us to do lots of things we couldn’t have considered ten years ago. But we’re also banging on its door, pushing the upper limits of what is possible and creating a demand that’s driving IT innovation.”

UK Biobank is a research resource following the health of its 500,000 participants who joined the study between 2006-2010. Information provided by participants is made available to approved health scientists in a way that does not identify the individuals concerned. It was established through the funds and vision of the UK Medical Research Council (MRC) and the Wellcome Trust.

More than 10,000 researchers have registered to use UK Biobank from 68 countries, and 1,000 projects are under way. Around three-quarters of registrations are now from overseas.

The new capacity will also be used to store and make available for research millions of images of the body’s internal organs generated by UK Biobank’s world-leading MRI scanning project. More than 35,000 participants have already undergone brain, heart, body and bone scanning, with the goal of securing 100,000 within the next few years. The combination of lifestyle, genetics and imaging data creates a powerful resource for research.

In supporting UK Biobank, ISCF is investing in the skills and infrastructure that puts the UK in pole position in health research globally. It recently invested £45 million in the European Bioinformatics Institute in Cambridge to increase the centre’s computing capacity and aims to ensure the UK remains globally competitive in the life sciences.

Notes for editors

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