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Investigating the role of genomic ‘dark matter’ in chronic lymphocytic leukaemia

  • Researcher: Dr Jose Ignacio Martin-Subero
  • Institution: University of Barcelona, Spain
  • Award Amount: £163,500 for 3 years from 1 July 2016
  • Cancer Type: Leukaemia
Investigating the role of genomic ‘dark matter’ in chronic lymphocytic leukaemia
Dr Martin-Subero is investigating how changes in genomic ‘dark matter’ could increase risk of chronic lymphocytic leukaemia (CLL)- one of the most common types of leukaemia.

In the UK alone more than nine new cases of CLL are diagnosed every day. Scientists don’t yet know exactly how the disease starts, and several large studies have recently started homing in on potential areas of the human genome which might be linked to CLL. Early data suggest that changes in the ‘dark’ regions of the genome which surround the genes could be important. For years many scientists thought these areas contained nothing but unused ‘junk DNA’. Now more and more studies show these areas actually have many important roles regulating how genes are switched on and off.

In this new project Dr Martin-Subero and his team will use data from these large studies along with data they have generated themselves to study in detail exactly how changes to the areas surrounding genes might impact CLL development. They will map the DNA landscape of these areas and work out how nearby mutations and external ‘epigenetic’ mechanisms might influence gene activity. Through this work they hope they will also identify new CLL genes.

“Our ultimate aim for this project is to study in patients which of these newly identified genetic or epigenetic changes might have real clinical potential for targeting with new treatments,” explains Dr Martin-Subero.
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