Genetic test speeds up diagnosis for children with cataracts

16 Sep 2013 A blood test for children born with cataracts will allow faster diagnosis and more personalised treatment, according to researchers from Manchester. The team, from the Centre for Genomic Medicine at The University of Manchester, have developed a test that checks all genes known to cause congenital cataracts using just one blood sample. "Using next-generation sequencing, we are now able to identify the cause of cataracts in children in a way that is much faster and more cost-effective than the current method," said Rachel Gillespie, who developed the test and spoke at speaking at the recent British Genetic Medicine conference. Congenital cataracts are a leading cause of blindness in children, affecting around 200,000 children around the world every year. It is thought around half of cases are due to genetic mutations whilst the remainder are caused by environmental risk factors during pregnancy, for example exposure to infections such as rubella. Mutations in over 100 genes have been linked to congenital cataracts. Conventional screening methods involve the consecutive testing of each gene separately to determine the precise genetic cause, which is a time-consuming and costly process.