‘The most detailed picture of human health that exists’: Biggest ever gene study unlocks ‘treasure trove’ of data that could lead scientists to cures for heart disease and cancer

By William On Nov 30, 2023

Scientists have released the largest ever set of patient genetic data that could drive new tests, treatments and cures, in a “momentous milestone for medical research.”

UK Biobank published whole genome sequencing data from half a million people.

Researchers said it provides “the most detailed picture of human health available” and equips them with the ‘ultimate toolbox’ to make new discoveries about how diseases develop.

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

The data could, among other things, enable researchers to look at personal risk for common diseases, better understand genetic diseases and develop new and better medicines.

Pictured: UK Biobank, which has unveiled new data that provides ‘the most detailed picture of human health available’, say scientists

The data could, among other things, allow researchers to look at personal risk for common diseases, better understand genetic diseases and develop new and better medicines (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 drugs against diseases such as heart disease, type 2 diabetes, rare genetic diseases (Huntington’s, motor diseases) . neuron disease) and cancer’.

She added: ‘It could also lead to more targeted healthcare, where your genetic makeup can help determine whether you are more or less likely to benefit from a particular treatment, or suffer side effects.

‘These data will also enable accurate identification of individuals at high genetic risk for disease, leading to interventions for targeted screening and early disease diagnosis or for introducing targeted preventive measures.’

According to Prof. Allen: ‘These data, together with the wealth of data on lifestyle, environment, biomarkers and health outcomes, mean that UK Biobank provides the most detailed picture of human health available, giving researchers the ultimate toolbox to sooner – accessible links and discoveries about the development of diseases possible.’

WHAT IS A GENOME?

Your genome is the instructions for creating and maintaining you. It is written in a chemical code called DNA. All living things – plants, bacteria, viruses and animals – have a genome.

Your genome consists of all 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 fingernails to the antibody proteins that fight infections.

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

The rest of the DNA, between the genes, used to be called ‘junk’ DNA. It was not considered important.

But scientists discovered that ‘junk’ DNA regulates genes and the genome.

Genomics looks at the entire genome – including ‘junk’ DNA – to understand how it can affect health.

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

Source: Genomics England

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

Professor Sir Rory Collins, Principal Investigator at UK Biobank, said: ‘This is a veritable treasure trove for recognized scientists conducting health research, and I expect it will deliver transformative results for diagnosis, treatment and cures around the world.’

The UK Biobank charity was founded twenty years ago and recruited half a million people to create a comprehensive source of health data.

It is used by researchers around the world, from academic, commercial, government and charitable institutions, to make scientific discoveries that improve human health.

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

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

It also includes identifying people at very high genetic risk for diseases such as heart disease, breast cancer and prostate cancer, which can help with screening.

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

In return for investments, UK Biobank will provide nine months of exclusive data access to industry members of the consortium.

In this way, commercial companies invest heavily to improve a health dataset that is then available for approved research around the world.

The new data – and the rest of UK Biobank’s anonymised data – are now accessible to approved researchers worldwide on the UK Biobank Research Analysis Platform.