Pioneering research with potential to transform health outcomes through early detection, precise diagnoses, and personalised treatment for major diseases
- Initiative will map the epigenome using 50,000 samples with the goal of advancing early disease detection, diagnosis and treatment in cancer, neurological disease and other common complex diseases
- Oxford Nanopore's direct sequencing technology to provide the most comprehensive epigenetic map out of reach with current mapping technologies
- The initiative builds upon a new strategic partnership between UK Biobank, Genomics England and NHS England to drive biomedical research forward and uncover novel genomic signatures in cancer, human genetic disease and infectious 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 an individual's 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 epigenetic 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 C, A, G, T plus methylation markers including 5mC, 5hmC, 6mA and all contexts. This unprecedented level of detail is possible through 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 as part of the nanopore genome sequencing 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 98% of the 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 disease detection, offering hope for interventions long before conventional 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.
About Oxford Nanopore Technologies
Oxford Nanopore Technologies' goal is to bring the widest benefits to society by enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology for real-time, high-performance, accessible, and scalable analysis of DNA and RNA. The technology is used in more than 125 countries to understand the biology of humans, diseases such as cancer, plants, animals, bacteria, viruses, and entire ecosystems. Oxford Nanopore products are intended for molecular biology applications and are not intended for diagnostic purposes. For more information, visit: nanoporetech.com.
Forward-looking statements
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Fact sheet: Epigenetics and Oxford Nanopore
Epigenetics is the study of chemical modifications to DNA that can be passed down through generations. These modifications do not involve alterations to the DNA sequence itself but do impact the ways genes tell the body which proteins to produce. This emerging field provides critical insights into how our environment and life experiences can affect health and disease.
What are epigenetic modifications?
Epigenetics is the study of how gene activity is regulated without altering the underlying DNA sequence.
- If DNA is the hardware of your body-a fixed blueprint- the epigenome is the software, the operating system that determines how the blueprint is read and executed.
- At its core, epigenetics involves chemical modifications to DNA (also known as methylation) or its associated proteins, which influence gene expression-essentially flipping genes "on" or "off" or adjusting their level of activity.
- These changes don't alter the genetic code itself but modify how the code is interpreted, i.e. influencing the production of proteins in cells.
Why is epigenetics important in disease?
Epigenetic changes play a pivotal role in diseases like cancer, dementia, and other complex conditions:
- In cancer, abnormal epigenetic signatures can turn on genes that drive tumour growth, or turn off genes normally responsible for preventing the spread of cancerous cells.
- In neurodegenerative diseases such as dementia, epigenetic changes may help explain why certain genes are more or less active in affected individuals. This helps inform our understanding of the disease.
Epigenetic research holds promise for developing diagnostic tools, identifying disease risk earlier, and designing targeted therapies that address the specific molecular mechanisms of a disease.
What makes Oxford Nanopore's technology unique in the study of epigenetics?
Oxford Nanopore's direct sequencing of native DNA/RNA enables richer epigenetic insights that have been previously out of reach with other technologies:
- Nanopore sequencing provides a comprehensive view of up to 98% of the methylation markers across the genome compared to only 3% based on legacy methods (microarrays).
- Nanopore's any-length read technology can analyse large sections of genomic data, allowing an overarching view of epigenetic modifications across regions of DNA. This enables researchers to get the whole picture of the modifications, allowing more informed and accurate assessment.
The Oxford Nanopore UK Biobank partnership
Oxford Nanopore is collaborating with UK Biobank to create the world's first comprehensive "epigenetic map."
- This initiative will sequence 50,000 blood samples from UK Biobank, building the world's largest reference dataset focused on capturing the epigenetic markers across the genome.
- The dataset will focus on mostly healthy participants, creating an invaluable baseline for studying a variety of diseases and also creating population-level risk profiles to help evaluate the likelihood of certain risks or outcomes across a large group of individuals.
What could this mean for healthcare?
By creating a detailed map of epigenetic changes in a large, diverse population, this project aims to:
- Enhance disease understanding: Uncover how epigenetic factors contribute to diseases like cancer and dementia.
- Accelerate diagnostics: Develop more precise diagnostic tools in shorter time frames.
- Inform personalised treatments: Tailor therapies to the specific molecular and epigenetic profiles of individual patients, delivering greater efficacy and impact.
Why does this matter?
This collaboration represents a leap forward in understanding the "hidden" layers of gene regulation that are affected by environmental and lifestyle impacts. Similar to the impact of the Human Genome Project, the insights from this project have the potential to transform how we approach some of the most challenging diseases, paving the way for innovations in prevention, diagnosis, and treatment.
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Contacts:
Alex Doniach, Senior Director for Strategic Communications, Oxford Nanopore Technologies
Alex.doniach@nanoporetech.com
