Patients with severe congenital neutropenia (CN) have a low neutrophil number in peripheral blood, a type of blood cells that defences our body from bacterial infections. The deficiency of neutrophils leads to recurrent infections. Treatment with granulocyte colony-stimulating factor (G-CSF) ameliorates symptoms and reduces infections in CN patients. CN is a cancer predisposition syndrome with high risk of acute myeloid leukaemia (AML) development. Using inducible pluripotent stem cells (iPSCs) and mouse model of CN-associated AML we are planning to investigate the process of leukemogenic transformation seen in CN patients with inherited mutations in the HAX1 gene and create a screening platform for molecular pathways/factors that can be targeted to prevent or to treat AML in CN-HAX1 patients.

Here you can get further information.