‘The most detailed picture of human health in existence’: Largest genetic study ever unlocks ‘treasure trove’ of data that could lead scientists to cures for heart disease and cancer

‘The most detailed picture of human health in existence’: Largest genetic study ever unlocks ‘treasure trove’ of data that could lead scientists to cures for heart disease and cancer

Scientists have released the largest set of patient genetic data to date, which could power new tests, treatments and cures – a “significant milestone for medical research”.

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

Researchers said it provides “the most detailed picture of human health available” and equips them with the “ultimate toolbox” to gain new insights into the development of diseases.

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

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

Pictured: The UK Biobank has released new data which scientists say is “the most detailed picture of human health available”.

The data could enable researchers to study personal risk for common diseases, better understand genetic diseases, and develop new and better drugs, among other things (stock image)

The data could enable researchers to study personal risk for common diseases, better understand genetic diseases, and develop new and better drugs, among other things (stock image)

Professor Naomi Allen, senior scientist at UK Biobank, said the publication of the data means that “in a few years’ time we could have new and more effective medicines for diseases such as heart disease, type 2 diabetes and rare genetic diseases (Huntington’s disease , motor disease). disorders ) will see diseases). neuron disease) and cancer’.

She added: “It could also lead to more targeted healthcare, where your genetic makeup could 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 of disease, leading to interventions for targeted screening and early disease diagnosis or the introduction of targeted prevention measures.”

According to Prof Allen: “This data, together with the wealth of data on lifestyle, environment, biomarkers and health outcomes, means that the UK Biobank provides the most detailed picture of human health available, giving researchers the ultimate toolbox for faster access links” and discoveries about the development of diseases is possible.”

What is a genome?

Your genome is the manual for your creation and maintenance. 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 infection.

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

The rest of the DNA between genes used to be called “junk” DNA. It was not considered important.

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

Genomics studies the entire genome – including “junk” DNA – to understand how it may affect health.

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

Source: Genomics England

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

Professor Sir Rory Collins, senior researcher at UK Biobank, said: “This is a treasure trove of respected scientists doing health research and I expect it to deliver transformative results for diagnosis, treatment and cures around the world.”

British charity Biobank was founded twenty years ago and has 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 nonprofit organizations to make scientific discoveries that improve human health.

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

This includes searching for genes linked to protection against obesity and type 2 diabetes, which has the potential to lead to the development of new drugs.

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

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

In return for the investment, UK Biobank will provide exclusive data access to the consortium’s industry members for nine months.

In this way, commercial companies invest heavily in improving a health data set that is then available for recognized research around the world.

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

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