This is the story of Yakup who was born with a rare genetical condition. Having been undiagnosed for years left him and his family helpless. But his story had an amazing twist when the researchers from IBG and Dokuz Eylul University sequenced his DNA. This video was created in collaboration with the GA4GH Driver Project, The European Joint Programme on Rare Diseases (EJP-RD). We deeply wish that research will help making many more patients’ and their families’ life better.