Functional Characterisation of SH2B3 Variants in Haematological Disease

This thesis examined the genetics of a group of chronic blood cancers, know as the myeloproliferative neoplasms (MPN). MPN cause abnormalities in the bone marrow and overproduction of cells in the blood. This study focused on a gene called SH2B3. Whilst some individuals with MPN have mutations in this gene, many of these mutations have not been established as a cause for the cancer. Through analysing cells, mice, and humans with SH2B3 mutations, this research demonstrated that some SH2B3 mutations are inherited, common within the general population, and can result in higher blood counts and an MPN.