Genomic medicine is already helping more people receive answers about their health conditions through better diagnosis, treatment, and support. By volunteering to take part in research, you'll be making a difference to NHS patients and the future of genomic medicine.
The Breast Cancer GeCIP Domain will use the 100,000 Genomes Project to better understand how changes (mutations) in someone’s DNA may have caused a tumour to form. They are also interested in how DNA changes might change someone’s risk of developing cancer. The group will also investigate how mutations in the tumour itself can influence how it develops and reacts to treatment. They hope to identify patients where alternative treatments can be repurposed and made more effective.
Dr Nicholas Turner
Institute of Cancer Research
The Cancer of Unknown Primary GeCIP Domain will use the data from the 100,000 Genomes Project to define the changes in the tumour DNA, and try to identify factors that can be used to more accurately diagnose and understand CUP biology.
Dr Harpreet Wasan
Imperial College London
There are several challenges that the research in the childhood cancer domain will address: 1) identification of the genetic abnormalities underlying rare childhood tumours, 2) development of diagnostic approaches to childhood tumours that allow prediction of outcome and predict response to novel treatments
and 3) identification of children with underlying inherited disposition to tumours
Dr Thomas Jacques
University College London
The colorectal cancer GeCIP domain will study the DNA of colorectal cancer patients from both their normal tissue (germline) and the tumour itself (somatic). They aim to identify DNA changes (mutations) that may contribute to the cancer, or may control how the tumour develops and evolves over time. By studying these mutations and understanding how they have their effects, they hope to be able to identify potential new targets for drugs, or cases where existing drugs could be repurposed to improve outcomes.
Professor Ian Tomlinson
University of Birmingham
Gliomas are tumours of the central nervous system (the spine or brain) starting in a particular type of cell called glial cells. They are the third and sixth most common tumour in middle-aged men and women, respectively. Gliomas are heterogeneous with various different subtypes being identified, and these differences reveal themselves in differing responses to therapy and differences in survival rates.
Professor Keyoumars Ashkan
Haematological malignancies refer to blood cancers that affect the blood, bone marrow, lymph and lymphatic system -systems that are all intimately connected by the circulatory (blood) and immune systems. Collectively they represent the fifth most common cancer in the UK, and while some patients respond well to treatment, the majority relapse and will ultimately die due to disease progression or therapy-related side-effects.
Professor Anna Schuh
University of Oxford
Head and neck cancers comprise a mixed group of tumours derived from the lining of the mouth and throat and the thyroid and salivary glands. Whilst the majority are related to cigarette smoking and alcohol use, a significant minority have no definable cause or result from viral infection, particularly Human papillomavirus (HPV) or Epstein Barr Virus (EBV). Over recent decades the incidence of throat cancer caused by HPV (HPV+) has increased markedly. Why this has happened and how HPV causes throat cancer is unclear.
Professor Terry Jones
University of Liverpool
Dr Matt Lechner
University College London
Liam Masterson
University of Cambridge
The lung cancer GeCIP domain will study the DNA of patient’s normal non-cancer tissue (germline) and tumour (somatic). They aim to better understand what changes occur in the DNA as the cancer spreads. They aim to find out if these DNA changes can help us to better characterise the tumour, and decide on more effective treatments to use.
Dr Charles Swanton
The Francis Crick Institute
Melanoma is caused by uncontrolled cell growth of certain cells in the skin, and are primarily the result of exposure to high levels of ultraviolet light – from spending too long in the sun, or from excessive use of tanning devices. How well drugs fight melanoma vary between individuals and it’s likely that the reasons behind this are due to the variety in people’s genes. The Melanoma GeCIP domain will be using the genetic sequence from the 100,000 Genomes Project to understand what those variations are and how they can be used to identify which patients will and won’t benefit from certain medication.
Dr Samra Turajlic
The Francis Crick Institute
Neuroendocrine neoplasms (NENs) are tumours arising from cells that form the endocrine and nervous systems. They occur mainly in the organs of the gut and in the lungs. Once considered a rare tumour entity, their incidence and prevalence rates are increasing.
Chrissie Thirlwell
University College London
Previously, it was thought that there were different types of ovarian cancer. Now, these are recognised as fundamentally different diseases. The Ovarian and Endometrial Cancer GeCIP Domain will focus on the study of endometrial cancers and the commonest subtype of ovarian cancer, called high grade serous ovarian carcinoma (HGSOC). This type causes the majority of deaths from ovarian cancer.
Dr James Brenton
University of Cambridge and Cancer Research UK
Dr David Church
University of Oxford
The Pan (across cancer) Cancer GeCIP Domain will focus on the analysis of all types of cancer, using data from all tumour types in the 100,000 Genomes Project.
Prrofessor Richard Houlston
Institute of Cancer Research
The Prostate Cancer GeCIP domain will study the DNA of the patients recruited to the 100,000 Genomes Project. Their aim is to uncover what changes (mutations) take place in the DNA of normal prostate that cause them to become cancerous. They hope to link these mutations to how severe the tumour becomes, and whether or not it reacts to treatment.
Professor Johann de Bono
Institute of Cancer Research
Despite advances in our understanding of renal (kidney) cancer, this has not translated into new medicines. Many patients receive treatment that is not effective and has considerable costs, both economic and in terms of side effects. One of the greatest challenges in this disease is to translate the ongoing increased understanding of biology into benefit for patients in the clinic. The Renal Cancer GeCIP domain will carry out research on the 100,000 Genomes Project dataset with this as their primary goal.
Dr James Larkin
Royal Marsden NHS Foundation Trust
Sarcomas are rare cancers, accounting for just 1% of cancers and are among the most diverse cancer types. There are more than 100 known subtypes. Data from sarcoma participants in the 100,000 Genomes Project will help to identify and better define the different tumours – based on the genetics, appearance and response to treatment.
Professor Adrienne Flanagan
University College London
The Testicular Cancer GeCIP Domain want to take a ‘pan-omics’ approach to testicular cancer, that is using the wealth of data provided in the whole genome sequencing that will be produced by the 100,000 Genomes Project alongside all of the other research data available, to better identify the best treatments for each individual patient, and the patients who have the highest long-term risk.
Dr Andrew Protheroe
Oxford University Hospitals NHS Foundation Trust
Upper gastrointestinal (UGI) cancer is caused by uncontrolled cell growth in the various organs of the upper gastrointestinal tract (commonly the oesophagus, stomach, pancreas, liver, and gallbladder). The overall aim of the Upper Gastrointestinal Cancer GeCIP Domain is to use the data resulting from the 100,000 Genomes Project to describe the landscape of UGI cancer and to allow improved understanding and treatment.
Professor John Bridgewater
University College London
The sequence of health-related events that we all experience is increasingly captured in health records, on smart phones or on devices that we wear. In order to get the most benefit from the genetic sequence in the 100,000 Genomes Project datacentre for ourselves, our families and for others we need to bring together these two sequences – on the one hand our health as it unfolds over time and on the other hand the string of 3 billion letters that make up our genome.
Professor Harry Hemingway
University College London
Dr Stefanie Mueller
University College London
Some of the patients and families recruited to the 100,000 Genomes Project have ultra-rare conditions that do not fit into a single group e.g. nerve or heart diseases. These conditions affect a tiny number of individuals and so very large studies like the 100,000 Genomes Project and international collaboration are required to establish the specific genetic cause.
Professor Caroline Wright
The Ethics and Social Science GeCIP domain will encourage and support research on the ethical aspects and social implications of the clinical and research uses of genomics in order to inform the development and implementation of high ethical standards.
Professor Mike Parker
University of Oxford
Dr Anneke Lucassen
University of Southampton
The UK has a huge strength in structural bioinformatics. This area of bioinformatics uses DNA sequence data to predict and analyse the 3D structure of the molecules that make up our bodies, like proteins.
Dr Ewan Birney
European Bioinformatics Institute
Professor Christine Orengo
University College London
Genomic technologies have shown promise for stratifying disease management, identifying patients with rare disorders and identifying the causes of infections, all of which could improve both health and non-health outcomes for patients. The 100,000 Genomes Project presents an ideal opportunity to systematically collect high-quality cost and health outcome data within the largest genome sequencing programme in the UK, in an NHS setting.
Dr Sarah Wordsworth
University of Oxford
The Integrated Pathogens and Mobile Elements GeCIP domain looks at retroviruses, pathogens and COVID-19 susceptibility and response.
Professor Colin Cooper
University of East Anglia
Dr Gkikas Magiorkinis
Athens University
The population genomics GeCIP domain brings together leading UK researchers and collaborators from around the world. They will use the data to understand better how genetic variation has occurred in England. They will also generate information to facilitate other genetic analyses.
Dr Matteo Fumagalli
Imperial College London
Dr Aylwyn Scally
University of Cambridge
In the field of genomics, technology is outstripping our capacity to analyse the data. The 100,000 Genomes Project raises data analysis and interpretation questions that have not yet been addressed. These are the main focuses of the Quantitative Methods, Machine Learning and Functional Genomics GeCIP domain.
Dr Diana Baralle
University of Southampton
Dr Chris Yau
University of Manchester
This GeCIP domain will harness the strength of UK infrastructure, such as the NIHR Clinical Research Network, the Stratified Medicine Network and the Structural Genomics Consortium. The formation of a stratified healthcare and therapeutic innovation GeCIP domain will provide the platform for a major scientific and healthcare initiative in this area.
Professor Sir Mark Caulfield
Queen Mary, University of London
Professor Sir Munir Pirmohamed
University of Liverpool
Rare genetic cardiovascular diseases, also called ‘inherited cardiac conditions’, when considered together affect around 1% of the population. As a group they carry a unique susceptibility to sudden death at a young age, usually occurring in otherwise healthy people. They are therefore among the most devastating of rare diseases for affected families.
Professor Bernard Keavney
University of Manchester
All the chemical reactions in our cells that convert or use energy, including nutrients, can be defined as metabolism. In metabolic disorders this process is disrupted. In endocrine diseases, the way that cells in the body communicate with each other through the bloodstream malfunctions.
There are hundreds of rare inherited metabolic and endocrine diseases that have serious effects on health and quality of life. Many are diagnosed late and there are few highly effective treatments.
8,000 families with rare inherited metabolic and endocrine diseases were included in the 100,000 Genomes Project.
Professor Stephen O'Rahilly
University of Cambridge
Over 180 genes for inherited eye disease have recently been discovered. This can make a molecular diagnosis difficult, as many genes need to be sequenced to find the specific cause of a family’s disease. The eyes and ears are easy to examine. For example, direct imaging of cells in the eye is possible. This means that a molecular diagnosis can be linked to detailed information on structure and function of the ear or eye. Information from the 100,000 Genomes Project will inform ongoing treatments and future clinical trials.
Professor Andrew Webster
(Sight)
University College London
Dr Mike Bowl
(Hearing)
MRC Harwell Institute
Dr Sally Dawson
(Hearing)
University College London
The immune system is among the most complicated parts of the human body. We need an array of specialised white blood cells to fight infection and protect against cancer. To produce this complex system, each cell relies on detailed instructions in the form of DNA. Spelling mistakes in DNA can cause disease such as infection or inflammation, particularly in children but also increasingly recognised in adults.
Professor Sophie Hambleton
Newcastle University
By studying cancer risk genes, the researchers hope to identify the DNA changes in individual participants which have been passed down through the family and caused cancer. Any significant findings will be fed back to the clinicians looking after those patients, as they may be important for healthcare.
Professor Clare Turnbull
Queen Mary University of London
There are over 400 rare diseases of the skeleton and for many of them there are no treatments and little understanding of why they happen. The aim of this GeCIP domain is to use the extensive expertise within the UK to make the most of the information from the 100,000 Genomes Project, so that we can develop better tests and treatments for people with these conditions.
Professor Muhammad Kassim Javaid
University of Oxford
Over 8,000 people (patients and their families) with neurological and neurodegenerative diseases joined the project. Researchers and clinicians in the neurology GeCIP domain will improve interpretation of the whole genome sequences. This will improve clinical feedback for patients.
Professor Henry Houlden
University College London
Professor Patrick Chinnery
University of Cambridge
The blood is one of the most complicated parts of the human body. We rely on red blood cells to carry oxygen around the body. An array of specialised white blood cells together with tiny cell fragments called platelets protect us from bleeding by clumping together with special clotting proteins when a cut occurs and induce repair if the vessel wall is damaged. To produce this complex system, each cell relies on detailed instructions in the form of DNA. Spelling mistakes in DNA can cause disease such as bleeding, thrombus formation or anaemia.
Dr Noémi Roy
Oxford University Hospitals
Professor Andrew Mumford
University of Bristol
This domain focus is on identifying genetic causes of foetal, early life, and childhood abnormalities. These include birth defects, developmental disorders, growth problems, and disorders affecting several body systems that present in childhood. The aim of this research plan is to bring together existing genetic information, with new information from the 100,000 Genomes project, to find new genetic causes of disease, genetic changes that modify risks for disease, and to identify the mechanisms by which these genetic changes have their effects. We will develop more accurate terms to describe the features of rare diseases.
Dr Tim Barrett
Birmingham University
Dr Phil Beales
University College London
Kidney disease is an important cause of death and illness in the UK, costing up to 3% of the NHS budget. In many cases, the disease runs in families and is caused by a change in a gene. Many genes for kidney disease are already known. In some families, a gene that is causing disease has not been identified. The renal GeCIP domain will analyse data from the 100,000 Genomes Project. The researchers want to define the range of changes in known kidney disease genes. They will also look for new genes that can cause kidney disease.
Dr Daniel Gale
University College London
Professor Robert Kleta
University College London
The Respiratory GeCIP domain is split into five subdomains each dealing with a specific disease group. Each subdomain will undertake research into two areas, i) linking the genes that are known to be disease-causing with the clinical effect it has on the patient, and ii) identifying genes that are expected to be disease-causing and confirming or refuting this in laboratory models.
Professor Claire Shovlin
Imperial College London
Our group represents a collection of skin specialists (dermatologists) and geneticists who are interested in rare skin diseases. Many of the inherited skin diseases have no effective treatments and no cure. If we can understand the genes which cause these diseases we would be able to explain the diseases to our patients more clearly, for example to advise whether other people in their family could be affected.
Dr Edel O'Toole
Queen Mary University London
Dr Neil Rajan
University of Newcastle
Browse existing GECIP domains
Use the menu to find information about each domain and research using data from the National Genomic Research Library.
The impact of collecting and using patient data isn't always straightforward, so we're always listening to public opinion and leading the ethics debate.
Watch this short video on the public dialogue around screening the whole genomes of newborns.
The NHS Genomic Medicine Service (GMS) Research Collaborative is a partnership between the NHS GMS, Genomics England and the National Institute of Health Research (NIHR) to support genomic research and development on a national scale.
Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples
Louise de Schaetzen van Brienen, Maarten Larmuseau, Kim Van der Eecken, et al.
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, et al.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease
Eric Olinger, Pran Phakdeekitcharoen, Yasar Caliskan, et al.
