Institute of Medical Genetics

The Institute of Medical Genetics has transformed healthcare in several inherited diseases, and has a long history of outstanding research and international collaborations.

Based in the School of Medicine and established in 1987, the Institute won the 2007 Queen's Anniversary Prize for work identifying genetic causes of diseases and developing new diagnostic tests and treatments for them, bringing benefits for patients and their families.

Its achievements have included:

  • identifying genes linked to bowel cancer, Huntington's Disease, muscular dystrophy, tuberous sclerosis and polycystic kidney disease
  • developing tests now used in the NHS and abroad, allowing earlier and more accurate diagnosis and increasingly more effective treatments
  • trials of new treatments for tuberous sclerosis and Huntington's Disease
  • enhanced screening for families at risk of disease.
  • training counsellors to support patients and families in coming to terms with the results of genetic tests.
  • helping develop the Wales Gene Park, enhancing the Welsh knowledge economy and public understanding of genetic science.

Since wining the Prize the Institute has expanded with a £4.8M investment in new laboratories for more work on cancer genetics. The focus has been on developing new methods of earlier diagnosis and treatment.

Among the most recent breakthroughs has been the finding that a chemical first found on Easter Island could treat the genetic disorder tuberous sclerosis. The Institute is now leading a UK-wide study on a new treatment involving the drug Sirolimus.