
Department of Genomic Medicine
We take a broad approach and encourage interests in genomics and the functional biology of genetic disease.
We have a significant footprint in the Cambridge Institute for Medical Research (CIMR) with several Principal Investigators there. Our research addresses a broad range of monogenic and multifactorial genetic disorders.
Many research programmes and clinical activities are run jointly with other departments at Addenbrooke’s Hospital.
The major areas of interests are:
- cancer genetics
- genetics of developmental disorders
- genetic components of neurological disease - including cellular mechanisms of neurodegeneration and developmental biology of neural cell development and repair
- genes contributing to X-linked disease, particularly intellectual disability,
- renal genetics
- autoimmune liver disease
- disorders of genomic imprinting and clinical application of exome and whole genome sequencing
Our MPhil in Genomic Medicine and MRes in Genomic Medicine students complete their work in a number of scientific institutions such as the:
- School of Clinical Medicine
- School of Biological Sciences
- European Bioinformatics Institute
- Wellcome Trust Sanger Institute
Our research themes
Our focus is on all rare diseases and cancer. Our cross-cutting theme works:
- in partnership with healthcare providers and patients of nearly all specialties
- across the full spectrum of ages from pregnancy to adulthood
We use large datasets and develop technologies to rapidly turn innovative genomic discoveries into patient benefits, from prevention to precision medicine.
Stratified Medicine Core Laboratory
Our Stratified Medicine Core Laboratory (SMCL) Next Generation Sequencing (NGS) Hub is a research facility specialising in NGS technologies and dedicated to advancing translational research for both academia and industry
We will be happy to assist you with your Next Generation Sequencing project, including nucleic acid extractions, and Olink Services.
Contact SMCL
If you have any questions you can email us:
- smcl_ngs_hub@medschl.cam.ac.uk
- SMCL Manager Dr Ana Toribio: alt45@medschl.cam.ac.uk
- Laboratory Manager Dr France Docquier: fmmd2@medschl.cam.ac.uk
Our Principal Investigators
- Professor David Rubinsztein FMedSci, FRS
- Professor Fiona Karet FMedSci
- Dr Melissa Gammons
- Professor Lucy Raymond
- Professor Evan Reid
- Affiliated PI Dr Kate Baker
- Dr Leonardo Bottolo
- Dr Ramsay Bowden
- Dr Ruth Casey
- Professor Helen Firth
- Dr Melissa Gammons
- Dr Timothy Hearn
- Professor Fiona Karet
- Professor Eamonn Maher
- Affiliated Assistant Professor Sarju Mehta
- Professor Serena Nik-Zainal
- Emeritus Professor Lucy Raymond
- Professor Evan Reid
- Professor David Rubinsztein
- Affiliated Professor Mina Ryten
- Professor Dick Sandford
- Dr Katherine Schon
- Dr Ana Luisa Toribio
- Head of Department Professor Marc Tischkowitz
- Professor James Whitworth
- Professor Geoff Woods
Get in touch
Visit us or contact us

Visit us
Department of Genomic Medicine
University of Cambridge
Level 6. Box 238. Addenbrooke’s Treatment Centre
Cambridge Biomedical Campus
Cambridge
CB2 0QQ

Email us
For general enquiries please email PAtoHoDMedGen@medschl.cam.ac.uk.