Solomon Sarpong Merepa

Millions of people, worldwide, suffer irreversible blindness resulting from inherited retinal diseases (IRDs) such as Retinitis pigmentosa (RP). Though many of these diseases are known to be inherited, unfortunately, their genetic causes and disease mechanisms have not been fully understood, limiting the development of effective treatment or a possible cure. My DPhil project, therefore, seeks to identify novel genetic causes of IRDs in patients with unknown genetic diagnosis and their family members using Next generation sequencing (NGS) and other molecular biology techniques.  Identification of genetic mutations responsible for the conditions in these patients will be a good contribution towards developing therapies for these blinding conditions.