The University of Cambridge Department of Medical Genetics was established in 1995 (previously, medical genetics research had been based within the Department of Pathology). The Head of Department is Professor Eamonn Maher and the other Principal Investigators in the Department are Professor Fiona Karet, Professor David Rubinsztein, Emeritus Professor Lucy Raymond, Professor Evan Reid, Professor Richard Sandford, Professor Marc Tischkowitz, Dr Leonardo Bottolo, Professor Geoff Woods, Professor Serena Nik-Zainal, Dr Ruth Casey, Dr George Mells, Dr Kate Baker and Assistant Professors Dr Timothy Hearn and Dr James Whitworth.
We are located at Addenbrooke’s Treatment Centre on Lv 6. To contact us click here.
There are close interactions between the University Department of Medical Genetics and members of the NHS East Anglian Medical Genetics Service including NHS consultants (Honorary Professor Helen Firth, Dr Ruth Armstrong, Dr Joan Paterson, Dr Soo-Mi Park, Dr Sarju Mehta, Dr Jenny Carmichael and Dr Simon Holden) and the Director of the East Genetics Laboratory Hub (Dr Sarah Bowdin). Medically qualified members of the University Department also have clinical duties in the NHS Clinical Genetics Department.
The Department of Medical Genetics adopts a broad approach to ‘Medical Genetics’, encouraging interests in genomics and the functional biology of genetic disease, as well as applying genetics to diagnostic and therapeutic approaches to disease. Ongoing research addresses a broad range of monogenic and multifactorial genetic disorders and many research programmes and clinical activities are run jointly with other departments at Addenbrooke’s and elsewhere.
We encourage you to explore this site to find out more about our research and graduate programmes that are available.
The Department of Medical Genetics is offering excellent graduate programmes to develop student’s knowledge of human genetics and genomics, including understanding of recent developments in genomic medicine and genomics technologies, as well as application of genomics to infectious disease and cancer diagnosis. Click here for more information.
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE – The UK National Cohort Study
A major study of children with intellectual disabilities has highlighted the additional challenges that they often face, including a…
Novel assay for clinical diagnostic and research studies of the role of disordered imprinting in human disease states
A new promising tool to interrogate DNA methylation at human imprinted regions has been developed by researchers from the University…
Professor Serena Nik-Zainal from Cambridge University Hospitals (CUH) and the University of Cambridge, analyses the complete genetic make-up or whole-genome sequences (WGS) of more than 12,000 NHS cancer patients.
DNA analysis of thousands of tumours from NHS patients has found a ‘treasure trove’ of clues about the causes of…
New publications from MPhil in Genomic Medicine students
Two former University of Cambridge MPhil in Genomic Medicine students have started 2022 by each publishing a research paper. Students…