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 Cambridge BRC image

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

March 11, 2025

An on-campus collaboration between NIHR Cambridge BRC-funded…

Green and blue poster showing Earth and DNA strand

Polygenic Score Catalog increases diversity and usability of genetic data

October 3, 2024

A paper highlighting changes to the Polygenic Score (PGS)…

Baby born deaf can hear after breakthrough gene therapy

May 9, 2024

A baby girl born deaf can hear unaided for the first time, after receiving ground-breaking gene therapy trial supported by the NIHR Cambridge BRC.

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

October 13, 2023

NIHR Cambridge BRC is supporting a world-first trial to see whether gene therapy can provide hearing for children with severe to profound hearing loss due to a rare genetic condition.

Read more about our researchers who have been awarded AMS Fellowships

Researchers awarded prestigious Academy of Medical Sciences Fellowships

May 18, 2023

Four NIHR Cambridge BRC researchers have been elected to the…

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

August 12, 2022

Cambridge researchers say detailed genetic characterisation including whole genome sequencing can help ensure safety of cell-based therapies.

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

June 16, 2022

NIHR Cambridge BRC researchers are among the Cambridge scientists…

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

New genomic testing provides vital diagnosis for severely ill babies

May 26, 2022

More than a third of severely sick babies referred for rapid whole genome sequencing receive vital genetic diagnosis in latest study.

Children with cancer benefit from whole genome sequencing

April 25, 2022

More than 100 children with cancer from across the East of England have had their tumours tested by whole genome sequencing to help improve their diagnosis and treatment.

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

April 22, 2022

DNA analysis of thousands of tumours from NHS patients has found a ‘treasure trove’ of clues about the causes of cancer.

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

January 12, 2022

Funding awarded by UK Research and Innovation as part of the DARE UK programme, to develop and test a health data ‘bridge’ for researchers to work with combined data.

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

November 11, 2021

In a world-first, new research has shown that whole genome sequencing can uncover new diagnoses for patients with rare diseases.

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Genomic Medicine Case Studies

World-leading genome study spells hope for sick babies

October 16, 2024

Cambridge researchers have shown that the diagnosis and treatment…

Genomics lab, checking samples - NIHR Cambridge BRC image

Families have their questions answered

October 16, 2024

Over the last five years, Cambridge investigators have identified…

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

December 7, 2018

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

December 3, 2018

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum

October 24, 2018

SYT1-associated neurodevelopmental disorder: a case series

August 13, 2018

A Randomised Controlled Trial of High versus Ad Libitum Water Intake in Patients with Autosomal Dominant Polycystic Kidney Disease: Rationale and Design of the DRINK Feasibility Trial

May 9, 2018

The NIHR Cambridge BRC 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.

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Cambridge Biomedical Research Centre
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31 Mar

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Find them below 👇 or visit our website to see the full list of opportunities available: https://www.nihr.ac.uk/funding-opportunities

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⏳ Final call: Applications are closing soon for Non-Executive Members of our new Council!

Help shape the strategic direction of health and care research in the UK. Apply by 10 April, 1pm ➡️https://www.nihr.ac.uk/honorary-and-specialty/nihr-council-non-executive-council-members

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Congratulations to Professor Grant Stewart who has been newly appointed as an #NIHR Senior Investigator https://bit.ly/4bI0owR

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Come and see us! We are at @CAST_Education (CAST) from 11am - 4pm for the @Cambridge_Fest Hands On Science Day!
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19 Mar

Many congratulations Sadaf from your colleagues at @IMS_MRL, @Cambridge_Uni, @CUH_NHS, @CambridgeBRC. Very well deserved
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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

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

Polygenic Score Catalog increases diversity and usability of genetic data

Baby born deaf can hear after breakthrough gene therapy

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

Researchers awarded prestigious Academy of Medical Sciences Fellowships

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

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

New genomic testing provides vital diagnosis for severely ill babies

Children with cancer benefit from whole genome sequencing

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

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

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

Genomic Medicine Case Studies

World-leading genome study spells hope for sick babies

Families have their questions answered

Genomic Medicine Publications

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum

SYT1-associated neurodevelopmental disorder: a case series

A Randomised Controlled Trial of High versus Ad Libitum Water Intake in Patients with Autosomal Dominant Polycystic Kidney Disease: Rationale and Design of the DRINK Feasibility Trial

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