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Genomics and Rare Diseases

The NIHR is the most integrated health research system in the world, and the largest national clinical research funder in Europe. 

The NIHR supports research studies through our funding programmes, training and support for health researchers, and through providing world-class research facilities. We also support dialogue between the life sciences industry and charities to benefit all, and facilitate the involvement of patients and the public to make research more effective.

The NIHR Clinical Research Network (CRN) supported 204 studies on ageing research, 57 of which were new studies, and recruited 87,637 patients to studies last year (2018/19).

In July 2019, the Minister for rare disease at the Department for Health and Social Care, Baroness Blackwood, announced a ‘national conversation’ on rare disease. This conversation aims to gather a range of views from the rare disease community. The views collected from patients, healthcare professionals, clinical academics and industry will be used by government to inform a rare disease framework to improve the lives of people living with rare diseases. To start the conversation, a survey has been launched to understand the major barriers that those living or working with rare disease face. We encourage you to make sure your voice is heard by completing the short survey by Friday 29th November 2019. Please also share the link with your colleagues and relevant networks.

The Deciphering Developmental Disorders (DDD) Study

Every year, thousands of babies are born in the UK who do not develop normally because of errors in their genetic makeup. Currently, diagnosis is restricted to a small minority; up to half of children with severe developmental disorders of probable genetic origin remain without a diagnosis.

The aim of the Deciphering Developmental Disorders Study (DDD) is to determine if new high-throughput genetic technologies can determine the cause of developmental disorders, and to facilitate the use of these technologies in the NHS. The NIHR CRN recruited 11,300 patients and their parents, helping to exceed the target of 9,500.

Analysis is ongoing, but to date the team have achieve a diagnostic rate of ~35% in patients where previous genetic investigations had failed to identify a diagnosis.  So far, more than 30 new developmental disorder genes have been identified as a result of this study.

The 100,000 Genomes Project

The 100,000 Genomes Project will sequence 100,000 genomes from around 70,000 people with a rare disease, plus their families, and patients with cancer.

The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments.

The project, run by Genomics England, builds on work by the NIHR BioResource, which has sequenced 10,000 genomes.

A new screening pathway to identify a rare, single-gene form of diabetes

Monogenic diabetes, caused by a mutation in a single gene, can be misdiagnosed as type 1 diabetes, leading to unnecessary insulin treatment.

Research supported by the NIHR has shown that screening pathway using blood and urine tests followed by two genetic (DNA) tests can identify people with a rare subtype of diabetes called monogenic diabetes.

The research, supported by the NIHR Collaboration for Leadership in Applied Health Research and Care South West Peninsula and the NIHR Exeter Clinical Research Facility, showed that the screening pathway performed better than current practice based on age at diagnosis and family history which misses 63%.

This approach could be used to rule out monogenic diabetes and is probably cheaper overall than offering every young person with diabetes DNA testing.

The NIHR Clinical Research Network (CRN) provides researchers with the practical support they need to make clinical studies happen in the NHS.

We provide world-class health service infrastructure - research support staff such as clinical research nurses, and research support services such as pharmacy, pathology and radiology - to support organisations seeking to conduct clinical research in the NHS in England. Some of this research is funded by the NIHR, but most of it is funded by NHS non-commercial partners and industry.

We support the set up and delivery of clinical research in the NHS through our study support service and our research design service helps researchers develop proposals to secure funding from our research programmes.

The CRN Genetics Specialty is one of over 30 specialties that bring together communities of clinical practice to provide national networks of research expertise. The Genetics Specialty supports the set-up and delivery of clinical research in the NHS in a wide range of areas such as rare diseases, causes and prevention of birth defects, common genetic disorders such as familial cancer, and genetic approaches to treatment and prevention of these diseases.

The Genetics Specialty supports the delivery and promotion of clinical research studies in a wide range of areas, including:

  • Rare diseases
  • Causes and prevention of birth defects
  • Common disorders such as familial cancer
  • Genetic approaches to their treatment and prevention.

Find a Genomics or Rare Disease study in your area

You can find out more about Genetics studies in your area through the Be Part of Research website.

The Musketeers' Memorandum

There are over 7000 rare diseases, which collectively affect 1 in 17 people with most being the result of a genetic disorder.

When viewed as a group, rare diseases are very common. The national approach made possible by the NIHR Clinical Research Network Portfolio, means we are able to collect together enough people with a particular condition to make a research project feasible. This leads to improved care and the development of new treatments.

The NIHR UK Rare Genetic Disease Research Consortium Agreement, also known as the Musketeers’ Memorandum, was agreed in 2013. This 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) project, which can then be delivered across all regional genetics centres.

This has enabled national involvement in over 30 studies that might not otherwise have been able to recruit adequate numbers of patients. It also enables fair and even access to patients with rare disease across the UK. The Memorandum is included in the UK rare disease strategy.

The NIHR Musketeers’ Memorandum 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) project, which can then be delivered across all regional genetics centres.

At a meeting of NIHR Senior Investigators, Professor Sir John Burn and his team were tasked with working with NOCRI (NIHR Office for Clinical Research Infrastructure) to develop a national agreement. When a regional genetics centre, supported by their NHS trust, developed a rare disease non-CTIMP project, the research and development  teams responsible for all the other regional genetics centres in the UK would sign off without a full review of protocol and the need for individual negotiations.

The cost to trusts is minimal and each will benefit from portfolio recruitment funding. The benefits to people with rare disease will be significant too. It is hoped that every centre in the UK joins the Musketeers' Memorandum - all for one and one for all!

Under this agreement residual material from the blood, saliva and previously collected tissue collected in studies and stored in biobanks, can be shared for the benefit of research into rare genetic disease. The local processes of each biobank with stored material would need to be applied.

For further information please contact musketeers@nihr.ac.uk

Professor Sir John Burn describes the impact of the Musketeers' Memorandum on rare disease research

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 UK, Unique and Contact a Family and have patient/charity representation on the specialty group. Group members 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.

Charities and other organisations

There are a number of research councils and other funders of genetics research with funding calls open right now.  The list below is not exhaustive but gives potential researchers a good idea of where to go to access funding for studies into these conditions.

The British Society for Genetic Medicine (BSGM)

The British Society for Genetic Medicine (BSGM) represents health professionals working in specialised genetic services in the NHS and scientists and health professionals in medical research.

European Society of Human Genetics (ESHG)

A non-profit organization that aims to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe.

National Genetics and Genomics Education Centre

Established in 2005 and funded by the Department of Health and Social Care as one of the major initiatives of the 2003 Genetics White Paper ‘Our Inheritance, Our Future – Realising the potential of genetics in the NHS’. One of the main aims of the Centre was to improve the understanding of genetics among healthcare professionals and its role in modern healthcare.

Genetic Alliance UK

national charity working to improve the lives of patients and families affected by all types of genetic conditions. It is an alliance of over 160 patient organisations.

SWAN UK – Syndromes without a name

A project run by Genetic Alliance UK offering support and information to families of children with undiagnosed conditions.

Rare Disease UK

Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. We believe that everyone living with a rare disease should be able to receive high quality services, treatment and support.

BioNews

The principal aim of BioNews is to provide accurate, balanced and timely news and comment on genetics, assisted conception, embryo/stem cell research and related areas.

The NIHR provides the support and facilities the NHS needs for first-class research by funding a range of infrastructure.

NIHR Biomedical Research Centres

NIHR Biomedical Research Centres (BRCs), partnerships between England’s leading NHS organisations and universities, conduct translational research to transform scientific breakthroughs into life-saving treatments for patients with genetic conditions. 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 and members of the general population 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 common and rare diseases, as well as volunteers from the general population. Patients and members of the public 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.

Work with our infrastructure

The NIHR Office for Clinical Research Infrastructure (NOCRI) helps public, charity and industry research funders work in partnership with NIHR infrastructure. Find out more about how they can support collaborations in the partners and industry section of our website.

Our experts in the NIHR Clinical Research Network (National Specialty Leads) can give advice on delivering your genetics study in the NHS.

Professor Eamonn Maher

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.  He is also an NIHR Senior Investigator and holds an European Research Council Advanced Researcher Award.  Prior to taking up his current post in 2013 he was Professor of Medical Genetics at the University of Birmingham (1996-2013).  His research interested include inherited cancer genetics, human developmental genetics and genomic imprinting.

 

Related Specialties

Cancer
Children and Young People
Dementias and Neurodegeneration
Haematology
Liver
Metabolic and Endocrine Disorders

 

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