The largest genetic study ever reveals a ‘trove’ of data that could lead scientists to treatments for heart disease and cancer

The largest genetic study ever reveals a ‘trove’ of data that could lead scientists to treatments for heart disease and cancer

By Emily Craig, Deputy Health Editor at Mailonline

00:01 November 30, 2023, updated 00:34 November 30, 2023

  • The UK Biobank has published whole genome sequencing data for half a million people
  • The researchers said it gives “the most detailed picture of human health that exists.”



Scientists have released the largest ever collection of patient genetic data, which could lead to new tests and treatments, in a “huge milestone for medical research”.

The UK Biobank has published whole genome sequencing data for half a million people.

The researchers said it provides “the most detailed picture of human health that exists” and prepares them Using the “ultimate toolbox” to make new discoveries about how diseases develop.

Whole genome sequencing analyzes the entire human genome – a unique genetic code made up of three billion building blocks.

Among other things, the data can enable researchers to look at personal risks for common diseases, better understand genetic diseases, and develop new and better medicines.

Pictured: The UK Biobank, which has unveiled new data that provides “the most detailed picture of human health that exists”, scientists said.
Among other things, the data can enable researchers to look at personal risks for common diseases, better understand genetic diseases, and develop new and better drugs (stock image)

Professor Naomi Allen, chief scientist at the UK Biobank, said the release of the data means that “within a few years we may see new and more effective medicines for diseases such as heart disease, type 2 diabetes and rare genetic diseases (Huntington’s disease, motor disease). ) and cancers.

“It may also lead to more targeted healthcare, as your genetic makeup can help determine whether you are more or less likely to benefit from a particular treatment, or get side effects,” she added.

“These data will also allow precise identification of individuals at high genetic risk for disease, leading to interventions for targeted screening and early diagnosis of the disease or the introduction of targeted preventive measures.”

According to Professor Allen: “These data, combined with a wealth of data on lifestyle, environment, biomarkers and health outcomes, means that the UK Biobank provides the most detailed picture of human health that exists, providing researchers with the ultimate toolkit to achieve the above findings.” -Far-reaching links and discoveries about possible disease development.’

What is a genome?

Your genome is the instructions for your formation and maintenance. It is written in a chemical code called DNA. All living organisms – plants, bacteria, viruses, and animals – have a genome.

Your genome is 3.2 billion letters of your DNA. It contains about 20,000 genes.

Genes are the instructions for making the proteins that make up our bodies – from the keratin in hair and nails to the antibody proteins that fight infection.

Genes make up about one to five percent of your genome.

The rest of the DNA, found between genes, was called “junk” DNA. He didn’t think it was important.

But scientists have found that “junk” DNA regulates genes and the genome.

Genomics looks at the entire genome — including “junk” DNA — to understand how it affects health.

Learning more about genomes can help determine the cause of genetic diseases.

Source: Genomics England

After five years, more than 350,000 hours of genome sequencing, and more than £200 million of investment, the UK Biobank has released the largest single set of sequencing data in the world.

Professor Sir Rory Collins, principal investigator at UK Biobank, said: “This is a real treasure trove for accredited scientists doing health research, and I expect it will have transformative results for diagnostics, treatments and cures around the world.”

Founded 20 years ago, the UK Biobank charity has employed half a million people to create a comprehensive source of health data.

It is used by researchers around the world, from academia, business, government and philanthropy, for scientific discoveries that improve human health.

The addition of sequence data to the database follows a series of developments made using the UK Biobank’s extensive biomedical database.

This includes finding genes associated with protection against obesity and type 2 diabetes, which could lead to the development of new drugs.

It also involves identifying people at very high genetic risk of developing diseases such as heart disease, breast cancer and prostate cancer, which may aid screening.

This project was funded by Wellcome, UKRI and four biopharmaceutical companies – Amgen, AstraZeneca, GSK and Johnson and Johnson.

In return for the investment, the UK Biobank is giving exclusive access to the data for nine months to industry members of the consortium.

In this way, commercial companies invest heavily to enhance the pool of health data that is then available for approved research around the world.

The new data – and the rest of the de-identified data in the UK Biobank – are now available globally to approved researchers on the UK Biobank Research Analysis Platform.

(Marks for translation)

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