The Howlett Lab is located in the Department of Cell and Molecular Biology at the University of Rhode Island. We are studying the eukaryotic cellular DNA damage response and, in particular, the molecular pathogenesis of the rare genetic disease Fanconi anemia.
Fanconi anemia is clinically characterized by congenital malformations, progressive bone marrow failure, increased cancer susceptibility, and premature mortality. FA is both autosomal and X-linked (FA complementation group B is caused by mutation in the X-linked FANCB gene). The incidence of FA in the U.S. is approximately 1 in 120,000 live births. There are currently twenty one defined FA complementation groups (A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, Q, R, S, T, U, and V) and all twenty one underlying genes (FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, and FANCV/REV7) have been identified. However, several unassigned FA complementation groups exist, and new FA genes remain to be discovered.