The Department of Medical Genetics was established in 1975, reflecting the increased academic activity within the NHS clinical service previously developed at Addenbrooke’s Hospital within the Department of Pathology.  Since then, the academic and clinical components of the Department have increased substantially, but the close interaction between University and NHS departments remains.

The medically qualified members of the Department also have clinical duties, and there is close interaction between the University and clinical departments.  There are five NHS consultant posts (Dr Helen Firth, Dr Joan Paterson, Dr Soo-Mi Park, Dr Sarju Mehta, Dr Simon Holden and Dr Ruth Armstrong).  Directors of the NHS Molecular and Cytogenetics Laboratories are Dr Jo Whittaker and Dr Ingrid Simonic.

The Department adopts a broad approach to ‘Medical Genetics’, encouraging interests in the functional biology of genetic disease, as well as applying genetics to diagnostic and therapeutic approaches to disease.  Many of our research programmes and clinical activities are run jointly with other departments at Addenbrooke’s and elsewhere.

Major areas of interests are:

• the 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
• cancer genetics