Fanconi anemia is a rare genetic disease affecting blood stem cells and leading to bone marrow insufficiency, congenital defects and predisposition to cancer. It affects both sexes and its diagnosis is often made late, at the stage when bone marrow insufficiency appears. This hematologic status evolves towards severe aplastic anemia or leukemia.
Fifteen genes coding for the FANC proteins exist (FA-A, B, B, D1, D2, E, F, G, I, J, L, M, N and P) and mutations in each of them is associated with a pathology. Each of these proteins are involved in DNA repair mechanisms, explaining the occurrence of cancers.
Of all those genes, the mutation of the FANC-A gene is the most frequently involved for this diseases (65% of cases).
The prevalence of type A Fanconi anemia is estimated around 1 out of 200,000.
Gene therapy approach for patients carrying a mutation on the Fanc-A gene
- Reference laboratory: Généthon
- Partner: CIEMAT (Madrid, Spain)
This approach consists of restoring the deficient Fanc-A activity through gene transfer by a lentiviral vector in the patient’s hematopoietic stem cells.