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      Identifying new genes for Perrault syndrome

      Finding new genes associated with Perrault syndrome will help to identify potential drug targets for hearing loss and lead to more accurate diagnosis.

      This is a PhD studentship being carried out by Leigh Demain in the laboratory of Professor William Newman at the University of Manchester. Her project started in October 2014 and will finish in September 2017.

      Background

      Perrault syndrome is a rare genetic condition which affects the ovaries and also causes hearing loss. Hearing loss in affected people varies, ranging from profound hearing loss at birth to a progressive form, starting in childhood. To date, mutations in four different genes have been found to cause Perrault syndrome, but we expect further genes will be identified.

      Aim

      Leigh's aim is to identify these new genes. Previous studies have identified a 'candidate' gene, so she is making further investigations into the DNA of a number of affected families, using state-of-the-art techniques, to establish if this is indeed a new Perrault syndrome gene. As well as Professor Newman's lab in Manchester, Leigh will also work in the laboratory of Professor Thomas Friedman in the USA, to find out more about the candidate gene she is studying, using tissue relevant to hearing.

      Impact

      By identifying the specific gene changes underlying Perrault syndrome in affected individuals, we can give families certainty about their diagnosis. It also means they can estimate family members' risk of being carriers of the condition. In the longer term, Leigh's research will help us identify drug targets, so we can research and develop effective treatments for hearing loss.