Oxford Nanopore and UK Biobank to create world’s first epigenetic dataset targeting the causes of cancer, dementia, complex disease

Oxford Nanopore Technologies, the company delivering a new generation of nanopore-based molecular sensing technology, today announced a new collaboration with UK Biobank to create the world’s first comprehensive, large-scale epigenetic dataset.

The project will utilise Oxford Nanopore’s information-rich DNA/RNA sequencing technology to map the epigenome of 50,000 participant samples to unlock crucial insights into disease mechanisms, with the aim of improving patient outcomes. This publicly available data will serve as a unique resource for the scientific community, bringing new opportunities to advance our understanding of genomics.

Epigenetics is the study of how external factors, including lifestyle choices like smoking and diet, can modify DNA. Epigenetic changes play a critical role in how genes are expressed and influence risk in diseases such as cancer and neurodegeneration. For example, research shows that epigenetics is key to uncovering how tumours grow and develop resistance to treatment.

In one study, single-cell epigenetic profiling provided a detailed view of the diversity of cancer cells within a single tumour, helping pave the way for personalised cancer therapies that could overcome treatment resistance.

Oxford Nanopore sequencing provides a comprehensive view of up to 98% of the methylation markers across the genome compared to only 3% based on microarrays. Methylation is an example of epigenetics that involves adding chemical (methyl) groups to DNA at specific sites without altering the underlying DNA structure. Oxford Nanopore is unique in its ability to sequence ‘canonical’ bases A, C, G, T plus methylation markers including 5mC, 5hmC and 6mA.

This unprecedented level of detail is possible thanks to Oxford Nanopore’s direct sequencing of native DNA/RNA, which enables richer insights that were previously out of reach. Nanopore sequencing does not require any chemical (bisulfite) conversion to detect methylation, preserving all methylated bases in the same run. As a result, long-range epigenetic modifications, structural variants (SVs), single nucleotide polymorphisms (SNPs), and repeats can all be identified and phased in a single dataset.

This collaboration aims to capture the full spectrum of the epigenome, or epigenetic markers across the genome, in a fast-evolving area of biomedical research with significant potential to improve lives. By capturing nearly the entire epigenome, researchers will gain insight into what causes diseases to develop and progress, with the potential to develop targeted treatments for conditions like cancer, neurological and rare diseases. Importantly, this dataset will focus on predominantly healthy participants, providing an invaluable baseline for disease studies and supporting the creation of population-level risk profiles, allowing for tailored healthcare interventions going forward.

The initiative could also pave the way for new clinical applications, including disease risk screening and more precise diagnostics to support early-stage detection, offering hope for interventions long before symptoms appear. With this data, doctors may one day be able to tailor treatments to patients’ unique epigenetic profiles, leading to more effective and personalised healthcare.

CEO Gordon Sanghera, Oxford Nanopore, said:

“This project represents a significant leap forward in epigenetic research, an increasingly important area of study related to disease progression and response to treatment. Working with UK Biobank to create the world’s largest epigenetic dataset aligns with our commitment to drive discovery in healthcare and genomics. By capturing comprehensive methylation data, we aim to open new doors for understanding disease, especially cancer and dementia, and ultimately enable more personalised, effective treatments for patients.”

Professor Naomi Allen, Chief Scientist, UK Biobank, said:

“Our lifestyle and environment can cause chemical changes to our DNA, which can contribute to disease by altering the ways genes tell the body which proteins to produce. By understanding these chemical changes, known as epigenetics, we can learn why some people fall ill and others don’t, even when they share the same genes.

“Right now, researchers only have small amounts of epigenetic data to study – this project will create a dataset unlike anything else in the world. It is orders of magnitude bigger, and because of the technology, the data will be much more detailed. Combining epigenetic data with the existing genetic, imaging, proteomic and lifestyle data that UK Biobank holds for our participants, will lead to a much better understanding of how diseases develop in mid- to old-age.”

Science and Technology Secretary Peter Kyle said:

“Diseases like cancer and dementia have brought heartache to every family in the country.

“By bringing government, the NHS, researchers and leading businesses together in partnership, we can transform our understanding of these conditions.

“The progress they make will ultimately save lives, and keep families together for longer.”

Health and Social Care Secretary Wes Streeting said:

“Our 10 Year Health Plan will shift the focus of healthcare from sickness to prevention, to tackle the root causes of devastating diseases like cancer and dementia.

“We will marry the care and compassion of the NHS with the ingenuity of our country’s leading scientific minds, to develop new cutting edge treatments and technologies, and make our NHS fit for the future.”

Expanding the UK’s leadership in life sciences and epigenetics

This epigenetic dataset follows the previously announced of a strategic partnership with the UK Government, UK Biobank, Genomics England and NHS England to drive pioneering research that can enhance patient care in the UK and beyond.

By supporting foundational discoveries in epigenetics, Oxford Nanopore’s partnership with UK Biobank aims to drive economic growth in the UK’s life sciences sector and position the UK as a global leader in cutting-edge genomics and healthcare innovation. With this project and future research, the partnership will help catalyse new clinical applications, translating scientific advances into real-world benefits for patients.