Studying how a faulty gene causes the inherited bleeding disorder thrombocytopenia

Functional investigation of SLFN14 in megakaryocyte and platelet biology

Platelets are important cells in the blood that stick together and help your blood to clot when you cut yourself. Some people have an unexplained lack of platelets in their blood, in a disorder called thrombocytopenia. Thrombocytopenia can be passed down through families and leaves people at risk of excessive bleeding. Dr Morgan and his team have discovered that mutations in a gene called SLFN14 cause thrombocytopenia in some families, but we don’t yet understand why. In this project they will take his findings further by creating platelet precursor cells containing the faulty SLFN14 gene. He will study in depth how this impacts the production and function of platelets to cause the bleeding disorder. This work will reveal clues that could help treatment of thrombocytopenia in the future. A better understanding of blood clotting mechanisms may also contribute to medical advances for people with coronary heart disease where numerous and overactive platelets lead to blood clots that cause heart attacks.