• Professor Eamonn Maher: Cancer genetics, genomic imprinting, autosomal recessive disease.
• Assistant Professor Dr James Whitworth and Professor Eamonn Maher: Molecular Pathology of Human Genetic Disease Study
• 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.
• Professor Evan Reid: studies on axonal degenerative disorders
• Dr Leonardo Bottolo: Reader of Statistics in Biomedicine. 
• Dr Ruth Casey: Consultant Endocrinologist and Senior Research Associate
• Emeritus Professor Lucy Raymond: applying genomic methods to X-linked learning disability.
• Professor Marc Tischkowitz: Cancer genetics. GTEOC Study – Genetic Testing in Epithelial Ovarian Cancer.
• Professor Serena Nik-Zainal – mutation signatures in large cancer datasets using computational approaches.
• Professor 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.
• Assistant Professor Dr Timothy Hearn: Comparative Chronomics
• Honorary Professor Helen Firth: mapping of the clinical genome and the matching of rare genomic variants to empower discovery and diagnosis in rare disease.  DECIPHER and the DDD study.

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