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Fanconi anemia : a disease model to understand causes and consequences of common fragile site instability.

Project description

Studying genomic instability in Fanconi anemia

Fanconi anemia (FA) is a rare genetic disorder that primarily affects the bone marrow, leading to bone marrow failure and an increased risk of developing certain cancers. It is also associated with various congenital abnormalities and an increased prevalence of common fragile sites (CFSs), which are chromosomal regions prone to breakage and rearrangement. Funded by the European Research Council, the FAtoUnFRAGILITY project aims to use FA as a model for understanding the instability of CFSs and their role in disease. Researchers will investigate the molecular events causing CFS breakage and rearrangement, as well as study the impact on critical signalling pathways. By understanding these mechanisms, potential strategies targeting abnormal gene expression or pathological pathways could be developed for prevention or treatment.


Originally described by cytogeneticists, common fragile sites (CFSs) are chromosomal regions known for their susceptibility to break and rearrange aberrantly, thus altering the expression of genes located therein. CFS instability is associated with tumor development and pathogenic copy number variations. Recent advances have significantly contributed to dissect the molecular bases of CFS instability, yet a unifying model for their unique breakage propensity has not been determined. Fanconi anemia (FA) is a chromosomal instability syndrome featuring congenital abnormalities, bone marrow failure and cancer predisposition, characterized by an increased CFS fragility. FA is thus an ideal model to understand the mechanisms underpinning CFS instability and the mechanistic link between CFS instability and the pathogenesis of disease phenotypes. I propose to use FA cellular models to examine the molecular events leading to CFS instability, and FA mouse models to investigate the consequences of deletions, amplifications or rearrangements involving CFSs on the expression of genes regulating critical signal transduction pathways involved in cell survival, proliferation, and differentiation. Exploring these mechanisms can lead to the development of chemopreventive or therapeutic strategies targeting aberrant gene expression or pathological pathways.


Net EU contribution
€ 1 462 383,00
Rue michel ange 3
75794 Paris

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Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
Other funding
€ 0,00

Beneficiaries (1)