Myelodysplastic Syndromes (MDS) are a heterogeneous group of pre-cancerous blood disorders. Patients’ blood cells in the bone marrow are not able to mature, leading to symptoms such as tiredness, anaemia, bleeding and frequent infections. The disease is particular prevalent in 70-80 years old, affecting 30/10,000 people in this age group. Approximately 1/3 of these patients will progress to acute myeloid leukaemia.
This new grant will allow Dr Anna Rose, a postdoctoral researcher in the Gibbons group (MRC Weatherall Institute of Molecular Medicine), to study the molecular mechanisms and prognosis of the disease in a subset of patients with a mutation in the splicing factor U2AF1. “MDS is characterised by sequential accumulation of genetic mutations in the bone marrow haematopoietic stem cells.” Explained Dr Rose “Mutations in U2AF1 have been identified in 10% of MDS cases, and these patients have more severe anaemia and poorer prognosis”. U2AF1 is a splicing factor, influencing how certain proteins are produced in cells. Dr Rose will explore whether the severe anaemia experienced by patients carrying mutations in U2AF1 are caused by the fact that these patients cannot produce haemoglobin correctly. Haemoglobin is the component in red blood cells that allows the transport of oxygen.
On receiving this award, Dr Rose said “I was delighted to receive the grant from OHSRC, as it will allow this project to be taken a lot further and hopefully give us important insight into the genetic basis of MDS, as well as understanding more about haemoglobin production. This project will help develop my interest in genetics of cancer, which I hope to continue in my long-term career”. Dr Rose is an Academic Clinical Fellow in Paediatrics, with an interest in Paediatric Haematology and Oncology. She is particularly interested in the genetic basis of cancer, and gene dysregulation in malignancy. Dr Rose studied at UCL Medical School, and did her PhD with Prof Shomi Bhattacharya at UCL Institute of Ophthalmology, looking at gene regulation in retinitis pigmentosa. She joined the Gibbons group at the MRC Molecular Haematology Unit in March 2018.
The £10,000 award by the Oxfordshire Health Services Research Committee (OHSRC), will support a one year project. OHSRC is part of the Oxford Hospitals Charity. OHSRC Grants are made to salaried staff working within the NHS in Oxfordshire, and aims to support research in the areas of clinical research community/primary care research and relevant laboratory studies.