16 September 1998

Our lab is involved in the study of Fanconi anemia, a rare chromosomal instability disorder with hypersensitivity to crosslinking agents. We have used somatic cell hybridization to demonstrate the existence of 8 complementation groups, each of which is thought to be connected to a distinct FA disease gene. Two of these have now been cloned by complementation cloning, and a third is underway.

Seckel syndrome is a rare disease, also characterized by hypersensitivity to crosslinking agents. We are interested in obtaining EBV-immortalized lymphoblasts from Seckel syndrome patients to be used for cloning the disease gene by complementation cloning.  If you have such lymphoblasts in your collection and if you are interested in a collaboration on cloning the Seckel syndrome gene, please get in touch.