Lochmüller Lab

A genetic diagnosis brings so much to families – and sometimes allows an effective treatment to be initiated. We are delighted that one of our joint projects is featured in this video created by the Global Alliance for Genomics and Health and European Joint Programme on Rare Diseases. In this initiative funded jointly by the UK MRC Centre and the Turkish funding agency TUBITAK, consanguineous families with neurogenetic conditions from across Turkey are sequenced by the Broad Institute’s Center for Mendelian Genomics, analysed in the RD-Connect Genome-Phenome Analysis Platform, and further worked up by scientists and clinicians in Cambridge (Horvath Lab) and Izmir (Oktay Lab and Dr Hız). This video features the moving story of one family’s quest to understand their son’s condition. From Dr Ahmet Yaramış‘s clinic in Diyarbakır, through Izmir, Cambridge, Boston and Barcelona, this story shows how international collaboration drives progress and how a diagnosis can change lives.