Health and Wellness

World’s largest proteins study ‘invaluable’ for understanding disease – experts

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The world’s largest study of proteins circulating the human body will begin in the UK this month, with the aim of pinpointing how diseases develop and paving the way for simple blood tests to detect the likes of cancer and dementia years before they are diagnosed by doctors.

The UK Biobank Pharma Proteomics Project could be a “crucial piece in the jigsaw puzzle for scientists”, experts suggest, with the potential to transform healthcare by the end of the decade.

It will allow researchers to determine how genes, lifestyle and environment cause illness through changes in protein levels in the blood.

There is also the possibility for blood tests to be created to diagnose autoimmune conditions such as multiple sclerosis and Crohn’s disease faster and more accurately.

Proteomics is the large-scale study of proteins, analysing their role in disease and how their structure and function cause illnesses.

This new project is an expansion of a revolutionary pilot programme which published data on almost 3,000 proteins from blood samples of 54,000 UK Biobank participants.

The pilot data has already allowed researchers to identify elevated proteins in patients who go on to develop dementia up to a decade before diagnosis, and seven years before the diagnosis of certain cancers.

Professor Sir Rory Collins, principal investigator and chief executive of UK Biobank, said: “The data collected in the study will allow scientists around the world to conduct health-related research, exploring how lifestyle, environment and genetics lead through proteins to some people developing particular diseases, while others do not.

“That will allow us to identify who it is, who’s likely to develop disease well before they do, and we can then look at ways in which to prevent those conditions before they develop.”

The scaled-up project – backed by a consortium of 14 pharmaceutical firms – will aim to measure up to 5,400 proteins from 600,000 blood samples.

This includes samples taken 15 to 20 years ago, when the UK Biobank study started, from 500,000 people in their early 40s to late 60s, as well as second samples taken from 100,000 UK Biobank volunteers 10 to 15 years later.

Professor Naomi Allen, chief scientist at UK Biobank, said: “This is hugely valuable, because it will enable researchers to see how changes in protein levels within individuals over mid to late-life influence the development of a whole range of different diseases.

“It will accelerate research into the causes of disease and the development of new treatments that target specific proteins associated with those diseases.”

Speaking of the pilot, Prof Allen added: “Having data on protein levels gives us a much more complete picture of how genes, lifestyle, exposure to environment cause disease through changes in proteins.

“So it adds a crucial piece in the jigsaw puzzle for scientists to figure out how disease develops, and gives us firm clues on what we can do to prevent and treat it.

“The pilot data is already showing that specific proteins are elevated in those who go on to develop many different types of cancers up to seven years before a clinical diagnosis is made. And for dementia, up to 10 years before clinical diagnosis is made.

“It really might be possible to develop simple blood tests that can detect disease much earlier than currently exists.

“For example, in the case of dementia, you can imagine that if we had a blood test that measures this handful of proteins that are specifically elevated in those who will later go on to develop Alzheimer’s disease, they would then benefit from taking new drugs that are on the market and specifically designed to treat early stage disease.

“Data from the pilot study has shown that specific proteins are substantially elevated in individuals with autoimmune conditions like multiple sclerosis and Crohn’s disease and so on.

“So you can see how a simple blood test could be used to complement existing diagnostic measures in order to diagnose these types of diseases more accurately and perhaps more quickly.”

Prof Allen said evidence from the pilot has also highlighted how some drugs can be repurposed to treat other conditions.

“Some proteins that are known to be important for immunity are related to developing a range of psychiatric conditions like schizophrenia, depression, bipolar disorder and so on,” she added.

“And given there are drugs already available that specifically target some of these proteins that are used for other conditions, it presents a real opportunity for repurposing those existing drugs for these neuropsychiatric conditions.

“The same has been shown for some chemotherapy drugs, in that some proteins associated with specific cancers already map onto existing chemotherapy drugs that are used for other cancer types.”

It is understood tens of millions of pounds in investment is being provided by the group of pharma firms, which includes the likes of Johnson & Johnson, AstraZeneca, Pfizer and GSK.

The funding will initially support scientists to measure protein levels from 300,000 samples – expected to take about 12 months – with this data made available to UK Biobank approved researchers in staggered releases from 2026.

Dr Chris Whelan, director of neuroscience, data science and digital health at Johnson & Johnson innovative medicine and Pharma Proteomics Project lead, said: “We’re hoping, as further groups see the value of this project, that we will get funding to do all 600,000 and I’m quite confident that we will reach that goal.”

The full dataset is expected to be added to the UK Biobank Research Analysis Platform by 2027.

“I’d anticipate that by the end of this decade, you’ll see transformations in healthcare and in how drug development is conducted,” Dr Whelan added.

Sir Rory said: “The data will be invaluable. The value of the data is infinite.”

Dr Whelan also said technology has supported the expansion of the project.

“They’re now making it possible for us to conduct proteomics across 600,000 samples in a similar time frame to the pilot project, but at a lower cost and at lower efficiency,” Dr Whelan said.

“A lot of that is being enabled by advances in robotics. So we’re going to use advanced robotics this time around, and that will lead to greater efficiency, faster turnaround times less chances of human error.”

He added that some academics are also “combining advanced artificial intelligence with the proteomic data to develop powerful new disease prediction tests”, including blood tests for complex illnesses such as dementia.

Science minister Lord Patrick Vallance hailed the plan as having the “potential to unlock a new era of possibilities”.

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