Hunting for genes that cause bleeding disorders

Identification and functional investigation of genes in patients with inherited bleeding disorders (Miss Annabel MacLachlan)

Supervised by Dr Neil Morgan, the PhD student on this project is hunting for new genes that cause bleeding disorders to work out how they cause disease. Bleeding disorders describe a group of conditions where blood does not clot properly. They can be caused by abnormalities in blood vessels, clotting proteins or platelets. Although scientists have identified many of the genes that cause bleeding disorders, the genetic cause is still unknown for many people with the condition and by identifying these genes we can gain insight into the bleeding process. As part of the BHF-funded Genotyping and Phenotyping of Platelets (GAPP) study, Dr Morgan has recruited 410 people with a suspected platelet-based bleeding disorder. However, the researchers were unable to find a platelet defect in 40 per cent of these patients, despite them having a bleeding disorder. In this project, the PhD student will look for genes that could cause the bleeding disorder in this group. The student will hunt for new genes using a genetic technique called whole exome sequencing, before working out what a proportion of these genes do. This research will reveal more about the mechanisms of bleeding and the causes of bleeding disorders. Identifying new genes could eventually help more people to be diagnosed and be offered genetic counselling in the future.