Grant: Operating Grant

Fanconi Anemia is a severe inherited disease leading to a wide range of clinical problems including predisposition to cancer. Defects in any of thirteen genes can result in problems of DNA repair, specifically sensitivity to DNA interstrand cross-links. Unrepaired DNA results in gross chromosomal rearrangements generating genomic instabilities that lead to tumour formation and cancer syndromes. Initially the inherited defects express as blood anemias. Even if the anemia can be treated by transfusion or marrow transplant, ultimately FA patients develop cancer. Thus, treatment of the anemia is not sufficient to protect sufferers of this disease. A better understanding of the repair defects leading to the gross genomic instabilities is needed to help prevent the progression to cancer.