Pathogenesis and treatment of auto-immune cytopenias and immunodeficiences
We study links between genetic variants and the development of immune thrombocytopaenia (ITP) as we support and follow up the largest UK cohort of ITP patients. We use gene editing on in vitro cellular models to assess the functional consequences of mutations identified in immunodeficient patients.
Group leaders: Prof Nichola Cooper
The cellular and molecular pathogenesis of Diamond-Blackfan anaemia (DBA)
We study the impact of ribosomal protein gene haploinsufficiency on the transcriptome of haemopoietic stem and progenitor cells and on the erythroblastic island; mechanisms of ribosomal protein gene regulation and their therapeutic implications.
Group leaders: Dr Deena Iskander, Prof Tassos Karadimitris