International Fanconi Anemia Registry: First Report

Abstract

Progress has been made in the elucidation of the basic mechanisms that underlie both developmental abnormalities and malignancy through careful studies of heritable diseases that predispose persons to these problems. Fanconi anemia (FA), ataxia-telangiectasia, xeroderma pigmentosum, and Bloom syndrome are a few examples of such rare disorders, which are of interest in their own right but have even more significance because of their relevance to cancer predisposition and the interaction of genetic and environmental factors in cancer risk. Registries for surveillance of cancers have been established for Bloom syndrome (German et al. 1984), ataxia-telangiectasia (Spector et al. 1978) and xeroderma pigmentosum (Lambert 1987). In order to study a large number of FA patients with the full spectrum of the diverse features of the disease, the International Fanconi Anemia Registry (IFAR) was established at The Rockefeller University in 1982. The registry serves as a central repository for clinical, hematologic, and genetic information on FA patients. The large clinical database generated by the IFAR and cellular material stored from IFAR patients and their families provide an important resource which should enable us to better define the disorder.

This work was supported in part by Basil O’Connor Starter Research Grant No. 5-446 from the March of Dimes Birth Defects Foundation (A.D.A.), by PHS Grant No.HL32987 from the National Institutes of Health (A.D. A.), by a General Clinical Research Center Grant RR00102 from the National Institutes of Health to The Rockefeller University Hospital, by support from the Pew Memorial Trust to the Laboratory for Investigative Dermatology, by PHS Grant No.GM36295 from the National Institutes of Health (A.R.), and by the Deutsche Forschungsgemeinschaft (T.M.S.-K.).