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Childhood cataracts: a new genetic test offers better diagnosis and treatment for patients

The Manchester Centre for Genomic Medicine at Central Manchester University Hospitals NHS Foundation Trust has launched a unique genetic testing service for children born with cataracts.

About 200 children are born with cataracts each year in the UK and 200,000 worldwide. The new test will give many more of these children and their families a definitive diagnosis of their condition, a process which used to take months or years before the introduction of this test. The new test will be available to all families across the UK upon request from their NHS clinician.

A definitive and quicker diagnosis, made earlier in a child's life, will help those suffering from severe diseases in which cataracts are an early symptom by allowing correct surgical and medical management and treatment. For those families with no history of children born with cataracts a diagnosis can inform the family of the risk to future children.

The new test will analyse 115 genes in parallel and uses next generation DNA sequencing technology. Testing is provided by the CPA accredited Manchester Centre for Genomic Medicine, based in Saint Mary's Hospital, and builds on the successful Retinal Degeneration test launched by the MCGM in 2012 which has diagnosed hundreds of NHS patients and has been used by Ophthalmologists worldwide.

The team that developed the test is led by Professor Graeme Black, Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust and Director Institute for Human Development at the University of Manchester.

Professor Black said: "The cataract test has been developed to both improve treatment for children and to save NHS England money by getting the right diagnosis at the right time, which means as early as possible for these children. The Manchester Centre for Genomic Medicine looks forward to making more of these tests available to NHS patients over the next few months."

Notes to Editors:

  1. The new test, a comprehensive mutation scan of 115 genes known to cause congenital cataracts.
  1. The new test will detect mutations in approximately 75% of all children affected by congenital cataracts; in isolated cases of Congenital cataracts the detection rate is 85%; in syndromic congenital cataract cases the detection rate is 63%
  1. Biographical note - Professor Graeme Black was appointed Professor of Genetics and Ophthalmology in 2002 and Director of the National Institute for Health Research funded Manchester Biomedical Research Centre in 2009. He is currently an NIHR senior investigator and is Director of the Manchester Institute of Human Development and is leading the development of Healthcare Genomics in Manchester.
  1. Visit www.mangen.co.uk for information for patients and health professionals about the service.