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, Dr Lucy Raymond, Dr Evan Reid, Dr Richard Sandford, Dr Marc Tischkowitz, Professor John Todd, Professor Linda Wicker and Professor Geoff Woods.

There are close interactions between the University Department of Medical Genetics and members of the NHS East Anglian Medical Genetics Service including NHS consultants (Dr Helen Firth, Dr Ruth Armstrong, Dr Joan Paterson, Dr Soo-Mi Park, Dr Sarju Mehta and Dr Simon Holden) and the Directors of the NHS Molecular and Cytogenetics Laboratories (Dr Steve Abbs and Dr Ingrid Simonic). 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.

Major areas of interests are:

• Cancer genetics
• Genetics of developmental disorders
• Genetics of inflammatory disorders and juvenile diabetes
• 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

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