Genomic Medicine

This Theme’s Focus

Modernisation of local and national computer infrastructure to drive development of diagnostic and early detection tools for rare disorders and cancer
To understand whether genetic findings are directly causing a patient’s clinical symptoms
To perform new clinical trials and studies in patients to show the benefits of using genomics in everyday healthcare through our NHS Genome Medicine Services

Inherited genetic diseases are individually rare. However, rare diseases are collectively common with 1 in 17 people in the UK estimated to be affected by a rare condition at some point in their lifetime. Genetic disorders are a major cause of learning disability and other lifelong conditions. Through activities with patients and their families, we know that identifying genetic causes of undiagnosed disorders is key to supporting affected families, removing diagnostic uncertainty, and helping with health and social management. Cancer is also a disease that affects the genetic material in our cells. However, the genetic changes or mutations seen in a cancer are acquired through life, rather than inherited.

In both rare inherited disease and cancer, the field of genomics has grown at an extraordinary pace. Through the 100,000 Genomes Project, a clinical research project which began in 2013, it has become possible to recruit NHS patients, make new discoveries about their genetic disorders, and aid clinical diagnoses in an unprecedented way. Following the completion of that project in 2018, the NHS Genomic Medicine Service was created, which aims to drive adoption of genomics into everyday healthcare.

We recognise that we are at a pivotal moment in UK genomics. We anticipate a future where data will become increasingly abundant in genomics research and in healthcare. We must therefore find ways to ensure that we can work with these waves of data, explore how to interpret new findings accurately and efficiently, and demonstrate that genomic findings make a positive difference to patient’s lives.

To do so, we will bring together the academic expertise in laboratory research and data science in Cambridge with the new NHS genomic network of Cambridge, Nottingham, Leicester, and Norfolk, to create a unified theme called Genomic Medicine. Our purpose is to accelerate discovery genomic research towards clinical application as rapidly as possible. We will achieve this through the following strategies:

First, we will modernise local and national computer infrastructure and improve how to do data research
Second, when we make new genetic findings, it is important to understand whether they could be directly causing a patient’s symptoms. We will develop research techniques to link genomic findings to a patient’s disease
Third, we will perform new clinical trials and studies in patients to evaluate the benefits of using genomics in everyday healthcare through our NHS Genome Medicine Services.

There are few places in the world where genomic innovations can reach patient care quite as swiftly as in the UK. We believe that we can capitalise on our national genomic network, which in the East of England alone encompasses nearly 10 million people with diverse ethnicities, to advance new knowledge towards patient benefit as rapidly as possible.

Theme Leads

Professor Serena Nik-Zainal

NIHR Research Professor of Genomic Medicine and Bioinformatics at the University of Cambridge and Honorary Consultant in Clinical Genetics at Addenbrooke’s Hospital.
Email: sn206@cam.ac.uk

Professor Marc Tischkowitz

Professor and Honorary NHS Consultant in the Department of Medical Genetics, University of Cambridge

Email: mdt33@medschl.cam.ac.uk

Meet our researchers

Here are some of the areas we are researching:

Computational Genomics

To equip ourselves for a data-driven future, we will establish interconnected data research infrastructure with patient/public involvement from inception to implementation.

Our Secure Data Environment, called CYNAPSE, will act as the link between innovative research work and the clinical domain. It will also be able to “talk” to other large research cohorts (groups) while maintaining data privacy of the highest order.

Through improved infrastructure, we will be better able to:

Use statistical/computational methods to develop stratification/diagnostic/early detection algorithmic tools from data across multiple BRC themes and facilitate industry-associated research
Increase discovery of new disease-causing mutations in genomic data
Develop, implement, and improve clinical interpretation tools such as HRDetect, CardioBoost, DECIPHER for rare disorders and the Steiner cancer analysis tool. These tools can be used to accelerate how we interpret genomic data, to serve as training modules and help educate the workforce better and faster.

Functional Genomics

To understand whether newly identified mutations are causing disease, we will use human cellular models and functional genomic techniques and:

Establish functional genomics capacity with expertise in CRISPR-based modifier screens in human neurons
Develop diagnostic clinical-grade assays
Perform deep genotype-phenotype characterisation
Integrate functional assays with quantitative patient phenotyping in neurodevelopmental disorders.

Translational Genomics

To convert any assay (test) or algorithm into a medical application, clinical value must be demonstrated through studies in patients.

Genomic Medicine provides pan-regional patient recruitment through the East GMS, stretching from Great Yarmouth, The Wash and The Fens in the East, through to Nottingham and Leicester to the West.

Some of our projects include:

Clinical trials for precision medicine
Partnerships with industry to enable identification of druggable pathways
Development and application of patient-facing tools such as applications in hand-held devices
Technological translation through the Stratified Medicine Core Laboratory (SMCL) incubator in association with the East GMS.

Latest News

Genomics lab reading samples - NIHR BRC: Cambridge image

Research collaboration offers new polygenic score insights in type 2 diabetes and related co-morbidities

11 March 2025

Green and blue poster showing Earth and DNA strand

Polygenic Score Catalog increases diversity and usability of genetic data

3 October 2024

Baby born deaf can hear after breakthrough gene therapy

9 May 2024

Photo of ear. Image by Anemone123 from Pixabay.

World-first trial to provide hearing for children with rare type of genetic hearing loss launches in Cambridge

13 October 2023

Read more about our researchers who have been awarded AMS Fellowships

Researchers awarded prestigious Academy of Medical Sciences Fellowships

18 May 2023

Blue helix: This image was purchased from Abobe Stock with a lifetime usage.

Large number of stem cell lines carry significant DNA damage, say researchers

12 August 2022

Cambridge researchers to receive nearly £4m to tackle cancer roadblocks

16 June 2022

Genomics lab reading samples on the screen - NIHR BRC: Cambridge image

New genomic testing provides vital diagnosis for severely ill babies

26 May 2022

Children with cancer benefit from whole genome sequencing

25 April 2022

Largest study of whole genome sequencing data reveals new clues to causes of cancer

22 April 2022

Award given to build data ‘bridge’ that could revolutionise precision medicine

12 January 2022

New ground-breaking research that is a potential game-changer for diagnosis and treatment of undiagnosed rare disease patients

11 November 2021

Previous Next

Genomic Medicine Case Studies

Genomics lab - NIHR BRC: Cambridge image

World-leading genome study spells hope for sick babies

16 October 2024

Genomics lab, checking samples - NIHR BRC: Cambridge image

Families have their questions answered

16 October 2024

The NIHR BRC: Cambridge is part of the NIHR and hosted by Cambridge University Hospitals NHS Foundation Trust in partnership with the University of Cambridge. We are at the heart of the Cambridge Biomedical Campus, Europe’s largest health research area.

Contact Us

NIHR Biomedical Research Centre: Cambridge
Box 277
Hills Road
Cambridge
CB2 0QQ

Tel: 01223 348490

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National Institute for Health and Care Research

Verified account @nihrresearch ·

7 Oct

📣 Funding opportunity: research to transform health, care and wellbeing for children and young people.

Applications are now open for PGfAR – October 2026, in partnership with @RCPCHtweets.

We’re looking for programmes that build sustainable research partnerships and bring

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National Institute for Health and Care Research

Verified account @nihrresearch ·

5 Oct

Early career health and care researchers can apply for funding to host and mentor students from underrepresented professions to consider a career in research.

It's an opportunity to develop a competitive funding application and experience supervising junior members of staff.

👉

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@cambridgebrc ·

30 Sep

What an amazing summer! ☀️ From county shows to festivals, our PPI team have been out and about across the region meeting members of the public to talk about health #research. Take a look at some of the places we’ve visited. @NIHRresearch #PPI

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@cambridgebrc ·

28 Sep

📣 Calling all health researchers
Avoiding Tokenism: Supporting meaningful PPI training. A FREE online session, 8 Oct, 1-3pm. Learn how to make your public contributions feel heard & valued & ensure the PPI you’re doing is more than a box-ticking exercise https://bit.ly/Trg4PPI

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National Institute for Health and Care Research

Verified account @nihrresearch ·

8 Sep

Take a look at our latest #ResearchFunding opportunities 👇

More funding and development opportunities can be found at: https://www.nihr.ac.uk/funding-opportunities

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National Institute for Health and Care Research

Verified account @nihrresearch ·

8 Sep

Applications closing soon⏰
Our Senior Investigator scheme will be closing on 14th September.
NIHR Senior Investigators help shape the direction of health and care research in the UK. They;
➡️ mentor early-career researchers
➡️ influence national research strategy and funding

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Genomic Medicine

This Theme’s Focus

Theme Leads

Professor Serena Nik-Zainal

Professor Marc Tischkowitz

Here are some of the areas we are researching:

Computational Genomics

Functional Genomics

Translational Genomics

Latest News

Genomic Medicine Case Studies

Contact Us

Useful Links