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New Phenome Centre will Decipher Roles of Nature and Nurture in Human Health

Published: Wednesday, June 05, 2013
Last Updated: Thursday, June 06, 2013
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The MRC-NIHR Phenome Centre will examine around one hundred thousand blood and urine samples every year, putting the UK at the forefront of a revolution in health and medical research.

The facility will analyse phenomes - the biological results of people's genes and environment - to help determine the causes of disease and indicate how treatments can be tailored for individual patients.

The centre will enable scientists to better understand and tackle diseases that are triggered by environment as well as genetic causes, and increase the potential to develop strategies for their prevention and treatment.

Ongoing genomics research is helping scientists to understand why some people develop diseases, but most common diseases are influenced by both genetic and environmental factors, such as diet and lifestyle. Studying the phenome will help determine how the environment and genes combine to affect biochemical processes that lead to disease.

The new centre, a collaboration between Imperial College London, King's College London, and analytical technology companies the Waters Corporation and Bruker Biospin, is funded by the Medical Research Council (MRC) and the National Institute for Health Research (NIHR). It is based at Imperial where its director is Professor Jeremy Nicholson, head of the Department of Surgery and Cancer.

Professor Nicholson said: "The sequencing of the human genome generated a lot of excitement among scientists and the public, but studying our genes has revealed less than we had hoped about common diseases such as cancer, diabetes and heart disease. By studying the phenome we can examine the effects of our genes, our lifestyle and our environment. What we discover about the causes of disease can be used to inform healthcare."

The MRC-NIHR Phenome Centre uses millions of pounds worth of nuclear magnetic resonance and mass spectrometry technology to give the most accurate readings to date of the exact chemical make-up of people's blood and urine. The equipment measures the chemicals, such as fats, sugars, vitamins and hormones, produced by our bodies as well as those that come from our food, drink and medicines, and the air we breathe. It can even detect the different types of bacteria naturally occurring in the gut, which can influence our health.

The new centre will provide a service to researchers throughout the UK, offering fast, efficient and high-quality analysis of people's phenomes.

"This technology is already in use in medical research but only on a small-scale. With the creation of this new facility, it will now be possible to get a complete and accurate biological read-out of thousands of individuals," said Professor Frank Kelly, Co-Investigator at the Centre and Director of Analytical and Environmental Sciences Division at King's College London.

"The ability to study the phenome on an industrial scale means we can pick apart the complex circumstances, genetic and environmental, that cause conditions like cancer, diabetes and heart disease."

Professor Paul Elliott, Co-Investigator at the Centre and Head of the Department of Epidemiology and Biostatistics at Imperial, said: "The MRC-NIHR Phenome Centre offers an unprecedented opportunity to apply nuclear magnetic resonance and mass spectrometry on a large scale to unlock information on genes, environment and lifestyle contained in stored blood and urine samples from thousands of people whose long-term health is being monitored."

Professor Nicholson added: "It will also allow us to see how individual patients respond to different treatments over time. For example, we could quickly discern whether a cancer patient is responding to chemotherapy and if not, switch to a different treatment, without wasting valuable time. And the data we gather will mean that, ultimately, we will be able to predict which treatments will work for which patients, based on their phenome."

One of the first projects to benefit from the technology is a study of blood pressure, a major risk factor for heart disease. The GRAPHIC study, led by Professor Nilesh Samani of the University of Leicester, was set up to investigate the genetics of high blood pressure. Blood and urine samples which have already been taken from 2,000 volunteers will now be tested at the MRC-NIHR Phenome Centre.

Professor Samani will work with staff from the centre to examine the types and levels of chemicals present in the samples. This can then be compared with existing data on the volunteers' blood pressure, their genetic make-up and information about their lifestyles. By discovering which chemicals relate to higher or lower blood pressure, researchers hope to gain the best understanding yet of this complex condition.

"We are very excited by this project. We already know that high blood pressure is partly caused by genes and partly by lifestyle and environmental factors, but we really don't understand how these interact at the protein and molecular level to raise blood pressure. This research will identify key changes in the phenome that correlate with blood pressure and help to identify mechanisms that we can target to develop better treatments," said Professor Samani, British Heart Foundation Professor of Cardiology at the University of Leicester and Director of the NIHR Leicester Cardiovascular Biomedical Research Unit.

The centre has secured funding of £10 million from the MRC and NIHR for its first five years.

Chief Medical Officer, Professor Dame Sally C Davies said: "The unprecedented capacity of the centre will allow health researchers a brand new window into how our genes interact with the environment, catalysing advances in diagnosis, treatment and personalised healthcare. This globally unique facility will also facilitate collaborative research with the life sciences industry and therefore has the potential to contribute to the nation's growth. It's a win-win situation for us all."

During its first five years, the centre will also test the thousands of samples already stored by researchers working at the NIHR's Biomedical Research Centres and Units.  The Centres and Units are collaborations between leading NHS hospitals and universities that focus on ensuring that patients benefit from the most promising medical research.

Professor Sir John Savill FRS, MRC Chief Executive said: "The UK has an extremely strong life sciences capability and world-class expertise in this area of research which applies the latest techniques in measuring the chemistry of the human body to valuable patient and subject cohort groups. The MRC-NIHR Phenome Centre is a superb national resource in a strong partnership with industry, unlocking a great deal of potential in UK bioscience and will ultimately result in huge benefits for patients."

Thanks to donations of additional equipment from Waters and Bruker, the centre will also include a state-of-the-art international training facility. This will enable students, scientists and doctors from around the world to gain hands-on experience of using analytical technology to study the human phenome.

Art Caputo, President of the Waters Division at Waters Corporation, said: "Waters is proud to be part of this first-of-a-kind research centre and the opportunity to work with such distinguished partners. Our mission at Waters is to advance science to constantly push the boundaries of what's possible. We fully expect this centre will do just that, multiplying our understanding of disease, setting the standard for this field of research and continually helping us to improve the health of populations around the world. There are no limits to the breakthroughs in health we might see as a result of work here at the NIHR-MRC Phenome Centre and hopefully in the near future in affiliated centres across the world, too."

Dr Manfred Spraul, Director of Applied NMR Business Development at Bruker BioSpin GmbH, said: "We are pleased that Bruker's cutting-edge NMR solutions can provide the fully automatic analysis capabilities required to help drive the centre's huge screening programme. Establishing a high throughput system was the first step in bringing NMR inside a healthcare environment, providing large scale epidemiology screening at the same time. Now we are very excited to see our technology impacting the wider field, enabling the personalised phenotyping that will help provide ever more accurate diagnoses and drive new drug development and targeted treatment."

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