How naturally-occurring mutations within the thrombopoietin receptor, c Mpl, cause CAMT
The molecular basis of how naturally-occurring mutations within the thrombopoietin receptor, c Mpl, cause chronic amegakaryocytic thrombocytopenia (CAMT)
CAMT is a very rare congenital disease, which leads to a chronic deficit in circulating platelet numbers in affected patients. Many causative mutations have been identified in patients and our studies are directed towards understanding the molecular basis for their effects using cell culture and mouse models.
These studies are being performed in collaboration with Professor Warren Alexander (Cancer and Haematology division) and Dr Ben Kile (Molecular Medicine division).