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Gene identification

The University of Manchester has an exceptional record in identifying genes linked to rare diseases. In the UK, as many as three million individuals are affected by a rare disease.

Researchers at Manchester* identified the molecular basis for 29 rare disease genes between 1993 and 2013.

They located disease genes through a combination of patient recruitment, expert clinical selection and detailed phenotyping, allied to state-of-the-art genetic techniques.

As a result of their research there is now:

  • clinical diagnostic testing for patients and their families, which means a reduced diagnostic burden for patients and health services;
  • better, more effective counselling on offer for patients and their families;
  • a prenatal testing service available to parents, when considered relevant and appropriate, to help them make informed choices.

Testing for genes identified at The University of Manchester is now offered in over 140 laboratories in more than 30 countries worldwide. In UK NHS laboratories alone, over 1,100 patients have been tested for five rare diseases.

The rare 29 genes identified at Manchester are linked to disorders such as:

  • Aicardi-Goutières syndrome (SAMHD1 gene, which affects the brain, immune system and skin); 
  • Waardenburg syndrome (PAX3 and MITF genes, which can cause hearing loss and changes in hair, skin and eye colouring); 
  • Treacher Collins syndrome (TCOF1 gene, which affects the development of bones and other facial tissues); 
  • 3M syndrome (OBSL1 and CCDC8 genes, which cause dwarfism, unusual facial features and skeletal abnormalities).

*The researchers involved were Graeme Black, Michael Briggs, Jill Clayton-Smith, Yanick Crow, Mike Dixon, William Newman, Stuart Pickering-Brown, Andrew Read, May Tassabehji and Nalin Thakkar.

"Testing for genes identified at The University of Manchester is now offered in over 140 laboratories in more than 30 countries worldwide. In UK NHS laboratories alone, over 1,100 patients have been tested for five rare diseases."

Yanick Crow / Professor of Genetic Medicine