• Professor Eamonn Maher: Cancer genetics, genomic imprinting, autosomal recessive disease.
• Professor David Rubinsztein: Autophagy and neurodegeneration and the biological effects of triplet repeat diseases.
• Professor Fiona Karet: renal genetics (acid base homeostasis).
• Professor Geoff Woods: autosomal recessive primary microcephaly; Mendelian disorders of painlessness.
• Dr Evan Reid: studies on axonal degenerative disorders
• Dr Leonardo Bottolo – Reader of Statistics in Biomedicine. 
• Dr Lucy Raymond: Genetics of Learning Disability (GOLD) Study – applying genomic methods to X-linked learning disability.
• Marc Tischkowitz: Cancer genetics. GTEOC Study – Genetic Testing in Epithelial Ovarian Cancer.
• Dr Serena Nik-Zainal – mutation signatures in large cancer datasets using computational approaches.
• Dr Richard Sandford and Dr George Mells: Renal genetics (autosomal dominant polycystic kidney disease ) and genetics of autoimmune liver disease. PBC Genetics Study – study to determine the genetic cause of Primary Biliary Cirrhosis, PSC Genetics Study – study to determine the genetic cause of Primary Sclerosing Cholangitis.

Research is carried out in the home Department of Medical Genetics located on level 6 of the Addenbrooke’s Treatment Centre (Professor Eamonn Maher, Dr Serena Nik-Zainal, Dr Richard Sandford, Dr Leonardo Bottolo and Dr Marc Tischkowitz groups) and also in the Cambridge Institute for Medical Research (Professor Fiona Karet, Dr Lucy Raymond, Dr Evan Reid, Professor David Rubinsztein and Professor Geoff Woods groups).