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Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : Carlos Pipaón González

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Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander.


Fanconi Anaemia is a low-prevalence disease (approximately one case in every 300,000 births) characterised by congenital malformations, progressive bone marrow degradation in patients and a very high proneness to develop cancer. Research in recent years has revealed that this disease is caused by a deficiency of "FANC proteins", the role of which remains largely unknown to date, but which are known to form an intracellular pathway involved in human DNA maintenance and repair. The discoveries made relative to the fact that the proteins involved in hereditary breast and ovary cancer belong to the FANC protein pathway and that this pathway appeared altered in certain spontaneous tumours focused the attention of a large number of researchers on these proteins.

Our project aims to characterise several aspects of the disease at the molecular and cellular levels so as to obtain information related to the role of FANC proteins and the cellular processes in which they are involved. Thus, we aim firstly to identify the genes whose expression is altered in cells derived from Fanconi Anaemia patients. This approach will provide information related to deficient cellular processes in cells with FANC protein mutations. Secondly, we will investigate the molecular mechanisms by means of which FANC proteins influence the expression of those genes. This information will reveal new therapeutic targets to be fought with drugs in order to alleviate some aspects of the disease and certain types of cancer. Finally, we will investigate the role of stroma stem cells in progressive bone marrow degradation in Fanconi Anaemia patients. Bone marrow stroma stem cells are known to favour the maintenance and proliferation of hematopoietic cells, due to which the knowledge of the extent to which this cell type is affected in these patients will enable us, on one hand, to learn more about the role of these cells and, on the other, to open the door to possible cell therapies that can alleviate hematological problems in patients.

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