In 1927, Guido Fanconi described a family in which three male children between the ages of 5 and 7 had pancytopenia and birth defects. Based on his observations in this family and others, the criteria for the diagnosis of Fanconi anemia (FA) included pancytopenia, hyperpigmentation, skeletalmalformations, small stature, urogenital abnormalities and familial occurrence.
To date, individuals with FA have been found to have mutations in any of 17 genes (FANC genes), the majority of which encode members of the FA core complex required for the monoubiquitylation of FANCI–FANCD2; the remaining FANC genes include the breast cancer susceptibility gene BRCA2 (also called FANCD1) and PALB2. In the lab, we study the function of these genes at the biochemical and cellular level. We also created the first mouse model which is deleted in the FANCI gene.