Fanconi Anaemia

Fanconi Anaemia

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities and extreme cancer predisposition. FA results from a defect in one of the at least 15 FA genes that encode for proteins interacting in a fundamental DNA damage response pathway with an important role in development, haematopoiesis and cancer prevention.


Our research is focused on malignant transformation associated with FA and functional aspects of the FA-pathway in sporadic cancers.

Using FA-derived AML cell lines we have identified amplification and overexpression of the EVI1 oncogene associated with FA characteristic gains in the chromosomal region 3q26q29. EVI1 is an oncogenic transcriptional regulator with a critical role in self renewal. EVI1 overexpression in AML, which is usually associated with balanced translocations confers poor prognosis in sporadic AML. EVI1 function and regulation is complex and includes transforming growth factor (TGF)-ß antagonistic and chromatin remodeling properties. We areexploring EVI1 function in the context of the FA defect.

Our FA-derived AML cell lines derived from the AML associated with bi-allelic disruption of the FANCD1/BRCA2 gene maintain the FA characteristic cross linker hypersensitivity. We explore the characteristics of the DNA damage response using systems biology approaches in order to identify regulatory events that might be therapeutically accessible.

Our research into fanconi anaemia is headed by Dr Stefen Meyer