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A genetic analysis of myelodysplastic syndromes (a group of blood disorders)

  • Researcher: Dr Matteo Giovanni Della Porta
  • Institution: University of Pavia, Italy
  • Award Amount: £199,100 for 3 years from 1st June 2015
  • Cancer Type: Leukaemia
A genetic analysis of myelodysplastic syndromes (a group of blood disorders)
Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by anaemia and an increased risk of developing leukaemia.  Bone marrow or blood stem cell transplants are the only potential cures for MDS.  For patients who are not eligible for transplants, drugs called hypomethylating agents can help improve survival.  The current way to decide a person’s treatment options involves the use of several prognostic scoring systems and balancing up the risk involved in the treatments and likely outcomes. Important steps forward in understanding molecular mechanisms responsible for MDS have been made in the last few years and several mutated genes were identified.  Advances in genotyping methods will soon make it possible for clinicians to detect a broad range of mutations at a reasonable cost, which will help diagnose someone suspected of having MDS.  Dr Matteo Giovanni Della Porta told us “We believe this will also significantly help predict a patient’s prognosis (how serious it is and chance of successful treatment). In this project, using cutting edge sequencing technologies, we plan to further analyse the genetic mutations associated with MDS. This would allow us to establish a molecular classification of these disorders.  Some mutations will help diagnose the disorder and others can give an indication of the likely prognosis.  This information could then be used for clinical decision making strategies based on an individual’s genomic profiling. Reaching these objectives would substantially improve the management of these disorders and could have life changing results on people diagnosed with MDS in the future.”
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