Find a Genetics Study in your area

To find out more about current Genetics studies you can view a list of studies on the NIHR Clinical Research Network Portfolio Database 

Working with the Life Sciences

The NIHR Clinical Research Network Cancer has been enormously successful in integrating clinical research into NHS clinical service provision, and both developing and delivering a large practice changing portfolio of clinical trials.

View our Genetics specialty profile to find out more.

Our Studies



As the most integrated clinical research system in the world, the NIHR supports research studies through our funding programmes, training and supporting health researchers, and 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.

Last year (2017/2018) the NIHR supported 175 studies on Genetics. The NIHR supported these studies through our funding programmes and our research schools and units. We also support Genetics research through our research infrastructure and our training and career development awards for researchers.

Personalised medicine for Asthma ConTrol (PACT)

In the UK, asthma affects around five million people. A child is admitted to hospital every 18 minutes due to their asthma.

The NIHR Clinical Research Network (CRN) Genetics Specialty is currently supporting The Personalised medicine for Asthma ConTrol (PACT) study, led by Professor Somnath Mukhopadhyay, Brighton and Sussex Medical School, and the Royal Alexandra Children’s Hospital. This study is investigating whether prescribing medication according to a child’s genetic makeup could lead to better control of a their asthma.

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; upto 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.

Preventing cancer in Lynch syndrome

Lynch syndrome is a condition that can run in families. It is also known as hereditary non-polyposis colorectal cancer (HNPCC). It is caused by an alteration in a gene called a mismatch repair gene.

Lynch syndrome doesn’t cause any symptoms. But people with Lynch Syndrome have an increased risk of developing bowel cancer, womb cancer and some other cancers.

The Cancer Prevention Project 3 (CaPP3), supported by the NIHR CRN, is focusing on finding the right dose of aspirin for people with a mismatch repair gene defect, the underlying cause of Lynch syndrome. It follows on from two other cancer prevention studies for Lynch syndrome.  

Genetics: Helping Children to Breathe Easily

Insight magazine caught up with a study team in Brighton who are investigating if prescribing medication according to a child’s genetic makeup could lead to better control of their asthma.

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Developing New Approaches to Antenatal Care

Research isn’t just about testing new treatments and drugs, it’s also about looking at how we can do things differently...

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The Musketeers’ Memorandum

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.


Research changed my life - Sultan - Morquio syndrome

Research has changed my life I'm really happy.

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Useful links and resources

Genetics Specialty leaflet

Genetics Specialty profile

Case studies

Useful links

Find a genetics study in your area

You can find out more about genetics studies in your area through the UK Clinical Trials Gateway.