Fanconi anaemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. Children with FA have a greatly increased risk of developing leukaemia. Dr Meyer’s research focuses on a gene called EVI1 which is involved in the development of leukaemia in children both with and without FA. He wants to understand how the FA genetic defect works together with EVI1 in leukaemia development.

Thank you

This research project on gene EVI1 in children with Fanconi anaemia has been successfully completed. Your donations allow us to fund ground-breaking research that can improve treatments given to children with cancer. Thank you. Your help allows us to continue to find ways to drive up the chances of survival for children with cancer and reduce the toxic side effects that can affect the rest of their lives.

Project Details

  • Project Title

    The genetics of familial leukaemia

  • Lead Researcher

    Dr Stefan Meyer

  • Research Centre

    University of Manchester

  • City & Institution Postcode

    Manchester, M13 9PL

  • Start Date

    1 October 2013

  • Duration

    39 months

  • Grant Amount


20190621 CWC UCL HiRes LoRes142


Fanconi anaemia (FA) is an inherited disease resulting from a defect in a cellular ability to deal with toxins. Children with FA have a variety of problems, including developmental defects, bone marrow failure and an enormous lifetime risk of leukaemia and other cancers. Around 1 in 10 FA patients develop leukaemia, a risk some 1,000-fold higher than the normal population. The basic biological defect in FA is that the body cannot repair a specific form of DNA damage caused by exposure to certain chemicals, including a group of substances called aldehydes. Aldehydes originate from natural metabolic processes as well as from dietary sources such as alcohol. The sensitivity of FA cells to DNA-damaging agents and the leukaemia predisposition of FA patients make FA a paradigm for gene-environmental interactions in leukaemia development. Research in the field of FA has contributed significantly to our understanding of how the body protects its DNA from toxic environmental substances including aldehydes. Over-expression of a gene known as EVI1 is a specific feature of leukaemia developing in FA patients; it can also be activated in leukaemia in children and adults without FA. The project team is studying EVI1 to understand how it works together with the FA defect in leukaemia development, particularly in the context of environmental toxins. They want to find out how EVI1 over-expression confers a specific growth advantage in blood cells with an inherited Fanconi defect and will study how EVI1initiates and maintains leukaemia in FA. In addition they will find out if the interactions are affected by exposure to DNA-damaging agents such as aldehydes and radiation.

What difference will this project make?

Completion of this ambitious project will add significantly to our understanding of one of the most aggressive leukaemia genes, EVI1, and how it overrides the normal response to environmental stressors and allows the development of leukaemia. Activation of EVI1 is a bad prognostic marker so understanding its function is very important and could lead to new therapeutic approaches. About acute myeloid leukaemia

About the Research Team

Dr Stefan Meyer is a Consultant Paediatric Oncologist at the Christie Hospital and a Senior Lecturer in Paediatric Oncology at the University of Manchester. His previous work on EVI1 has been published in leading international journals. The Stem Cell and Leukaemia Proteomics Laboratory in Manchester, where this research is being carried out, has a long-standing track record and provides the requisite high level of technical expertise and facilities for this complex research.
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