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Genomics and Rare Diseases


We fund research projects in genomics and rare diseases through our funding programmes, and support training and career development for researchers in the specialty. 

The NIHR BioResource provides researchers with unprecedented access to highly characterised patients with rare diseases, offering samples from more than 150,000 participants that researchers can screen for genes or variants of interest. 

We deliver genomics and rare diseases research funded by the NIHR, the life sciences industry and non-commercial organisations such as charities. We support the set up and delivery of this research in the NHS and in public health and social care settings. Our research infrastructure also supports research funded by these partners, offering expertise, collaborations and facilities. 

We also provide opportunities for people with a genetic condition or a rare disease and their families and carers to influence and take part in research.

The UK strategy for Rare Diseases

The UK government and devolved administrations published the UK Rare Diseases Framework in January 2021.

The framework sets out a national vision on how the UK will improve the lives of those living with rare diseases. It outlines 4 high-level priorities for rare diseases in the UK over the next 5 years:

  • helping patients get a final diagnosis faster
  • increasing awareness of rare diseases among healthcare professionals
  • better coordination of care
  • improving access to specialist care, treatment and drugs

NIHR is a key delivery partner in this work and the NIHR Bioresource is a key contributor to the framework through the UK Rare Diseases Forum. Since the framework was published the NIHR has been supporting the work through a number of important projects. This includes the NIHR-funded CO-ordinated Care of Rare Diseases (CONCORD) study which aims to understand how care for people living with rare disease and common chronic conditions is coordinated, and how they would like it to be coordinated.

The NIHR has also funded vital work into a pilot study of rare undiagnosed diseases, analysing the genes of 4,660 people from 2,183 families – all of whom were early participants in the 100,000 Genomes Project. The study, led by Genomics England and Queen Mary University of London, and supported by the NIHR BioResource, found that using whole genome sequencing GS led to a new diagnosis for 25% of the participants.

Next steps

To turn the Framework into action, each of the four UK nations has committed to developing nation-specific action plans detailing how the priorities identified in the Framework will be addressed. These action plans will be developed in close collaboration with the rare diseases community, with the needs of patients and their families centre stage.

England’s first Rare Diseases Action Plan was published in February 2022. It sets out specific, measurable actions for the next year under each of the four priority areas.


The NIHR supports patients and the public to participate in high quality research taking place in health and care settings across England, advancing knowledge and improving care.

Clinical Research Network

The NIHR Clinical Research Network (CRN) includes 30 specialty groups, who coordinate and support the delivery of high quality research by therapy area. Some of this research is funded by the NIHR, but most of it is funded by non-commercial organisations, such as charities or universities, and the life sciences industry.

The CRN provides researchers with the practical support they need to make research happen. It supports the set up and delivery of clinical research in the NHS and in other health and care settings through our Study Support Service, with tailored offers of support for:

Supporting genomics and rare diseases research

There are over 7,000 rare genetic disorders collectively affecting 1 person in 17. Our national approach, made possible through the NIHR CRN Portfolio gives us access to enough participants with a particular condition to make a research project feasible. For instance, the NIHR CRN Portfolio ‘Deciphering Developmental Disorders’ study was able to collect over 40,000 DNA samples from children with undiagnosed developmental disorders and their parents. This is especially important as the emphasis on research shifts from diagnosis of genetic diseases to development of novel treatments.

We support researchers working with participants with a range of genetic conditions. The studies we are involved in range from:

  • rare diseases
  • the causes and prevention of birth defects
  • common disorders such as cancers than run in families and genetic approaches to the treatment and prevention of these types of disorders
  • the development of new prenatal technology
  • diagnosis and management in children with congenital abnormalities, and
  • adults with later onset disorders such as cancer predisposition syndromes.

We are increasingly involved in research associated with the management and treatment of patients with inherited disorders. In addition to this, we also support genomic research studies into more common medical problems, such as heart disease, cancer and diabetes that do not have a single genetic cause but are associated with a combination of genetic and environmental factors.

We deliver this research across a wide range of health care settings including teaching hospitals, and across primary, secondary and community care.

Who we are

As well as providing research delivery staff, we also bring together highly engaged NHS consultants and clinical academics from top UK universities, bringing both clinical and academic expertise to your research. Our experts in the CRN Genetics Specialty Group can advise on delivering your infection study in the NHS and in particular geographic regions.

Professor Eamonn Maher is the NIHR Clinical Research Network National Specialty Lead for Genetics. Read Professor Maher’s full biography. Professor Maher is supported by local specialty leads in each of the 15 NIHR Local Clinical Research Networks.

Our collaborators and stakeholders

NIHR Clinical Research Network (CRN) Genetics Specialty has strong links with professional organisations such as the Clinical Genetics SocietyBritish Society for Genetic Medicine and European Society of Human Genetics.

We work closely with the UK Genomic Medicine Centres (GMC) which are delivering the 100,000 Genome Project and have representation from GMC leads on the specialty group. We have similar strong links with the regional genetics laboratories.

We also have good relationships with charities such as the Genetic Alliance UKUnique and Contact a Family and have patient/charity representation on the Specialty group.

NIHR Clinical Research Facilities

NIHR Clinical Research Facilities (CRFs) are purpose built facilities in NHS hospitals where researchers can deliver early-phase and complex studies.


Our funding programmes fund high quality research in genomics and rare diseases that benefits the NHS, public health and social care. We also provide career development funding awards for genomics and rare diseases researchers - see the careers tab for more information.

Our funding programmes

Our commissioned research programmes often seek research proposals on genomics and rare diseases. We have previously held a themed call on very rare diseases (2012). NIHR themed calls are funding opportunities focusing on a particular research topic, in which all our funding programmes participate. Most of our funding programmes also run funding calls open to research proposals on any topic (researcher-led calls), including research proposals in genomics and rare diseases.

Got an idea for research in genomics and rare diseases? The NIHR Research Design Service can help you turn it into a funding application, offering advice on research design, research methods, identifying funding sources, and involving patients and the public.

UK Rare Disease Research Platform: nodes

The Medical Research Council and the NIHR is co-funding an  opportunity to establish  10 nodes to support a UK Rare Disease Research Platform. Find out more about the opportunity and apply on the UKRI funding opportunity webpage.

Our portfolio of genomics and rare diseases research

You can search and view all the genomics and rare diseases research we’ve funded on NIHR Funding and Awards.

In addition, a number of our research programmes publish comprehensive accounts of our genomics and rare diseases research in the NIHR Journals Library.

Our research units

NIHR Blood and Transplant Research Units (BTRUs) are research partnerships between universities and NHS Blood & Transplant (NHSBT).

The following BTRU undertakes genomics research:

NIHR Health Protection Research Units (HPRUs) are research partnerships between universities and Public Health England and act as centres of excellence in multidisciplinary health protection research in England.

The following HPRU undertakes research in genomics:


The NIHR attracts, trains and supports the best researchers in genomics and rare diseases to tackle the complex health and care challenges of the future.

Our investment in people sustains excellent research capacity and expertise throughout clinical and non-clinical academic career pathways and provides high quality learning and development opportunities for the delivery workforce in our infrastructure.

Funding research careers

The NIHR Academy is responsible for the development and coordination of NIHR academic training, career development and research capacity development.

There is a wide range of NIHR training and career development awards available at different career stages, from pre-doctoral through to Research Professorships. These awards comprise both personal awards, which can be applied for directly with the NIHR, and institutional awards which should be applied for through the host institution.

Supporting the delivery workforce

Members of the NIHR Clinical Research Network Genetics Specialty Group are heavily involved with the training of future researchers and as such we work closely with the Royal Colleges, universities and health education organisations across the UK.


The NIHR invests significantly in people, centres of excellence, collaborations, services and facilities to support health and care research in England. Collectively these form the world-class NIHR infrastructure.

This national research infrastructure is available to use by UKRI, research charities and the life sciences industry as well as NIHR researchers. 

Find out more about working with our research infrastructure as a researcher or a member of the life sciences industry

NIHR Biomedical Research Centres

NIHR Biomedical Research Centres (BRCs) are collaborations between world-leading universities and NHS organisations that bring together academics and clinicians to translate lab-based scientific breakthroughs into potential new treatments, diagnostics and medical technologies.

The following BRCs undertake genetics research:

NIHR BioResource

The NIHR BioResource for Translational Research in Common and Rare Diseases (NIHR BioResource) is a national resource of patients with rare diseases who have volunteered to be recalled for research based on their genotype and phenotype.

The NIHR BioResource provides researchers with unprecedented access to highly characterised patients with rare diseases. Patients volunteer to provide a DNA sample and information about their health, lifestyle and family history. Following genomic and phenotypic characterisation, specific individuals can be recalled, on a national basis, to participate in both academic and industry-led early translational (experimental medicine) research studies. 

MRC-NIHR National Phenome Centre

The MRC-NIHR National Phenome Centre enables scientists to better understand and tackle diseases that are triggered by environment as well as genetic causes, thereby increasing the potential to develop strategies for their prevention and treatment.

NIHR Clinical Research Network

The NIHR Clinical Research Network (CRN) supports set up and delivery of clinical research in the NHS and in other health and care settings. Find out more on the Delivery tab.


The NIHR funds and supports world-class experts in genomics and rare diseases.

In addition, our experts in the NIHR Clinical Research Network (National Specialty Leads) can advise on delivering your genomics and rare diseases study in the NHS or in other health and social care settings.

National Specialty Lead

Professor Eamonn Maher is the NIHR Clinical Research Network National Specialty Lead for Genetics.  He is Professor of Medical Genetics and Genomic Medicine and Head of the Department of Medical Genetics at the University of Cambridge.

Read more about Prof Maher

Research Professor

The NIHR Research Professorship is the flagship personal funding award for the NIHR. The scheme funds research leaders of the future to promote effective translation of research.

Professor Diana Baralle, Professor of Genomic Medicine at University of Southampton and a consultant in Clinical Genetics, is an NIHR Research Professor.

Professor Baralle’s research is developing pathways for the interpretation of genetic variation in human disease using RNA technologies.

Public involvement

We engage with and involve patients, carers, service users and members of the public in order to improve the reach, quality and impact of research in genomics and rare diseases.

Have your say in research

We involve patients, carers, service users and members of the public in our national research funding and support activities, including in genomics and rare diseases research.

The researchers we fund also involve patients in planning and delivering their genomics and rare diseases research.

Involvement opportunities across the NIHR

Our Local Clinical Research Networks involve people in genomics and rare diseases research taking place in your local area.

The NIHR Blood and Transplant Research Unit in Donor Health and Genomics at the University of Cambridge has advisory opportunities for patients and the public.

The NIHR BioResource recruits people with rare diseases to help researchers pinpoint the genetic variations that are important for our health. All it takes is a blood or saliva sample and completing a health and lifestyle questionnaire, then you could be called up to take part in genetics research.

Take part in research

Be Part of Research is an online service that lists opportunities to take part in genomics and rare diseases research across the UK.

The Musketeers' Memorandum (NIHR UK Rare Genetic Disease Research Consortium Agreement)

The  Musketeers’ Memorandum is an agreement between 24 host NHS organisations of the Regional Genetics Network and major genetics referral centres across the UK.

It allows a single lead UK genetics unit to rapidly enable set-up for a rare disease non-CTIMP (Clinical Trial of an Investigational Medicinal Product) research project, which can then be delivered across all regional genetics centres.

Visit our Musketeers' Memorandum website