Why, What and How Can We Learn from a Rare Disease Like Fanconi Anemia?

In a field that embraces multiple aspects of both clinical and basic research and that moves impressively fast, any answers to the questions why, what and how can we learn from a rare disease like Fanconi anemia (FA) must remain tentative and preliminary. However, there are very encouraging advances, most notably at the level of understanding the molecular basis of FA and at the level of treatment via hematopoietic stem cell transplantation. For the sake of our patients we clearly need to arrive at meaningful genotype-phenotype correlations and individualized risk profiles. This requires prospective and longterm studies carried out in close cooperation among patients, clinicians and basic scientists. There are a number of open questions, for example relating to the mechanisms of chromosomal breakage and DNA repair, to the spectrum of genetic changes that herald and promote the emergence of leukaemia and solid tumors, and to the emergence of genetically reverted cells in blood and bone marrow of FA patients. Researchers in the fields of cancer and aging should be encouraged to and are likely to benefit from the study of Fanconi anemia, as are our patients from the welcome results of such studies. Copyright © 2007 S. Karger AG, Basel The year 2007 marks the 80th anniversary of the original description by Guido Fanconi of ‘Familial infantile pernicious-like anemia’, a rare genetic disease that since carries the name of this eminent physician-scientist [1]. Why should we study such a rare disease, what can we learn from its myriad clinical and molecular manifestations, and how should we go about it? I will try to give some brief answers to these questions even though by necessity these answers are tentative and preliminary. Despite undoubted progress, there still are many aspects of this enigmatic disease that we do not fully understand. Introductory Remarks