'Extraordinary' genetic data study released

'Extraordinary' genetic data study released

A ground-breaking paper celebrating the release of the genetic data of 500,000 people has been published today (11 October).

The data is already being used for hundreds of research projects on a wide range of illnesses including cancer, heart disease, diabetes, stroke, osteoporosis and schizophrenia.

Funded primarily by UK Research and Innovation’s (UKRI) Medical Research Council 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.

The paper, released today in the journal Nature, celebrates this research triumph, which is a culmination of several years' work carried out by a consortium of genetics experts.

UKRI Chief Executive Professor Sir Mark Walport said: "UK Biobank is one of the largest and most comprehensive studies of population health in the world. Genetic variation helps to explain important differences between people in health and disease. This largest ever investigation of the genetic basis of brain structure and function will provide unrivalled insights into neurodegenerative and psychological disorders, including Parkinson's and Alzheimer's diseases, depression and schizophrenia.

"The scale of this study is quite extraordinary, looking at over 3000 different measures of brain structure and function in 10000 Biobank volunteers who have had MRI brain scans, and finding over 100 areas of the human genome that influence these. None of this could be achieved without the generosity and trust of the half million participants in UK Biobank, and the global leadership of the outstanding team that runs it and makes the data globally available. The data from UK Biobank is fuelling a new era of genetic medicine. The NHS will be amongst the leading beneficiaries."

Professor Rory Collins, UK Biobank Principal Investigator, said that UK Biobank is enabling novel genetic health research worldwide. Almost 1,000 genetics-based research projects have so far been submitted to UK Biobank, with many more planned.

"Thanks to the vision of UK Biobank's funders, the altruism of the study participants and the contributions of a large number of scientists who have helped us along the way, UK Biobank is coming of age as a force in health research," Professor Collins said.

In a second paper released today, researchers report on a pioneering study that combined 10,000 UK Biobank MR brain images with genetics data from all 500,000 participants.

The team found a genetic link for some of the most fundamental processes that allow us to think, act and function, from the size of the parts of the central nervous system that control sight, hearing, speech, emotions and actions, to the integrity of the communications channels between them and the strength of the signals within. The results will provide a huge impetus to new research for a wide range of degenerative and psychiatric disorders and ultimately improve treatments.

 “We have had a tantalising glimpse of what could be,” said Professor Steve Smith, University of Oxford, who led the study. “These game-changing data stored within the UK Biobank resource, and growing in size and value all the time, will revolutionise our understanding of complex brain disorders.”

With 20,000 more participants already scanned and 70,000 still to go UK Biobank would transform understanding. In particular, the researchers studied 3,144 different measures of brain structure and function, resulting in the discovery of more than 100 areas of the human genome that influence the brain.

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.

The Medical Research Council (MRC) improves the health of people in the UK – and around the world – by supporting excellent science and training the very best scientists. The MRC is one of the nine organisations that make up UKRI.

Read more on the MRC website

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