Genomics and Rare Diseases

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Summary

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

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.

UK Rare Diseases Framework

The UK Rare Diseases Framework was published 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 four high-level priorities for rare diseases in the UK over the next five 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.

Each of the four UK nations has developed nation-specific action plans. NIHR is a key partner in delivering the Rare Diseases Action Plan in England.

Rare Diseases Action Plan - progress in 2022

NIHR BioResource

The 2022 action plan announced £40m in funding for the NIHR BioResource, which is supporting research using genetic information to find new tests and treatments for rare diseases.

During 2022, NIHR BioResource:

continued to recruit people with rare diseases from 60 NHS trusts in England, adding more than 2,500 new volunteers across 40 disease areas.
supported several new research studies, including an industry partnership to generate induced pluripotent stem cells (iPSC) to test novel compounds for rare diseases treatments.
expanded the RNA Phenotyping Project to include participants from 17 rare disease areas.

Commissioning research for better coordination of care in the NHS

The NIHR-funded CoOrdinated Care Of Rare Diseases (CONCORD) study was completed in 2022.

This 2-year research project found evidence of a lack of co-ordinated care that could have negative effects on the physical and mental health of people with rare diseases and their families. The study published a landmark definition of coordination of care in rare diseases.

The Department of Health and Social Care (DSHC) will commission policy research through an NIHR funding call in 2023. It will build on the findings of CONCORD and fill the remaining evidence gaps. This will help us decide which care coordination approaches could be prioritised within the NHS, and how this might be done.

Be Part of Research

NIHR’s ‘Be Part of Research’ website helps people find trials and studies for particular health conditions.

It’s now available through the NHS app in England. People in the rare disease community can find more opportunities to get involved in research.
Over 8,000 people have registered on the site.

Read Chloe and Tom's story of living with a rare inherited eye condition and taking part in research

Biomedical Research Centres (BRCs) - pioneering research

The Biomedical Research Centers (BRCs) are a core part of the NIHR investment in expertise, specialist facilities and a skilled research workforce. They translate scientific breakthroughs into potential new treatments, diagnostics and medical technologies.

In October 2022, the NIHR announced an investment of nearly £800 million in 20 BRCs across England. Examples of ongoing research include:

The Great Ormond Street BRC is developing a new gene therapy to treat a form of immunodeficiency known as ADA-SCID, which can be fatal in the first two years of life if it isn’t treated. The new therapy has been successful in 48 out of 50 children treated so far.
At the NIHR Newcastle BRC, researchers have launched the UK arm of a global gene therapy trial into Duchenne muscular dystrophy. This disease causes muscle weakness that worsens over time, and people with the condition will usually only live to their 20s or 30s.
At the NIHR University College London Hospitals BRC investigators have pioneered novel gene therapies that allow people with rare primary immunodeficiency disorders (PID) to lead long and healthy lives. The team has validated stem cell therapies as a safe treatment for adults with PID, enabling a new NHS policy ensuring they can access previously unavailable life-saving treatments.
NIHR Cambridge BRC’s Next Generation Children’s Project used rapid whole genome sequencing to study hundreds of severely ill babies and children in intensive care and showed that 30% of these children had unsuspected rare genetic disorders. Researchers were able to give a diagnosis of rare childhood conditions within weeks leading to a change in treatment and saving further invasive tests. Rolled out across NHS England any child admitted to intensive care with an unexplained condition is now eligible for whole genome sequencing improving clinical management.

New UK Rare Disease Research Platform

The Medical Research Centre (MRC) and NIHR launched a joint funding call in September 2022 to form a new UK Rare Disease Research Platform.

The platform will facilitate greater collaboration between:

academic, clinical and industry research and
patients, research charities and other stakeholders

to speed up the understanding, diagnosis and therapy of rare diseases.

Rare Diseases Action Plans

View the full DSHC action plans:

Rare Diseases Action Plan 2023

Rare Diseases Action Plan 2022

Delivery

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.

We provide researchers with the practical support they need to make research happen through our Study Support Service. This service supports the set up and delivery of clinical research in the NHS and in other health and care settings.

We have a tailored Study Support Service offer for non-commercial organisations, as well as a tailored offer for the life sciences industry.

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 Society, British 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 UK, Unique 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.

Funding

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.

Find funding opportunities in genomics and rare diseases

Got an idea for research in genomics and rare diseases? The NIHR Research Support 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.

Find out more about the NIHR Research Support Service

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 BTRU in Donor Health and Genomics

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:

NIHR HPRU in Genomics and Enabling Data

Careers

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.

Find out more about our training programmes

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.

Find out about our career development support for healthcare professionals

Support

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.

Experts

The NIHR funds and supports world-class experts in mental health. Find out more about collaborating with our experts.

In addition, our experts can advise on delivering your mental health study in the NHS or in other health and social care settings. Get our expert advice on delivering your research.

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.

Read more about Professor Baralle’s research

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.

Find out more about getting involved in our national activities

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

Find out how to get involved in NIHR-funded research in your local area

Involvement opportunities across the NIHR

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

Find your Local Clinical Research Network to see how you can get involved

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.

Find out more about these opportunities

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.

Join the NIHR BioResource

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