Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of ‘natural gene therapy’ and hematopoietic stem cell transplantation as the only curative approach in FA. The final chapters investigate evolutionary aspects of the FA genes with special emphasis on the avian genome and the involvement of FA genes in recombinational types of DNA repair. Physicians and researchers in the fields of pediatrics, hematology, cancer, genetics, DNA repair and aging will benefit from understanding this disease, which illustrates the complex network of genomic maintenance systems that protect us from cancer and premature aging.

Table of Contents:
Editorial: Schmid, M.; Preface: Schindler, D.; Hoehn, H.; Introductory Remarks; Why, What and How Can We Learn from a Rare Disease Like Fanconi Anemia? Schroeder-Kurth, T.; Fanconi Anemia: A Disease with Many Faces: Dietrich, R.; Velleuer, E.; Milestones in Fanconi Anemia Research: Digweed, M.; Hoehn, H.; Sperling, K.; Fanconi Anemia Genes: Structure, Mutations, and Genotype-Phenotype Correlations: Kalb, R.; Neveling, K.; Herterich, S.; Schindler, D.; Cancer in Fanconi Anemia and Fanconi Anemia Genes in Cancer: Neveling, K.; Kalb, R.; Schindler, D.; Clonal Chromosomal Aberrations in Bone Marrow Cells of Fanconi Anemia Patients: Results and Implications: Neitzel, H.; Kuhl, J.-S.; Gerlach, A.; Ebell, W.; Tonnies, H.; Interphase FISH-Assay for the Detection of MDS- and AML-Associated Chromosomal Imbalances in Native Bone Marrow and Peripheral Blood Cells: Tonnies, H.; Huber, S.; Volarikova, E.; Gerlach, A.; Neitzel, H.; Applications of Cell Cycle Testing in Fanconi Anemia: Schindler, D.; Friedl, R.; Gavvovidis, I.; Kalb, R.; Neveling, K.; Linka, Y.; Hanenberg, H.; Kubbies, M.; Hoehn, H.; Prenatal Diagnosis of Fanconi Anemia: Functional and Molecular Testing: Bechtold, A.; Kalb, R.; Neveling, K.; Friedl, R.; Gottwald, B.; Herterich, S.; Schmugge Liner, M.; Heilmann, C.; Hanenberg, H.; Schindler, D.; Revertant Mosaicism in Fanconi Anemia: Natural Gene Therapy at Work: Hoehn, H.; Kalb, R.; Neveling, K.; Friedl, R.; Bechtold, A.; Herterich, S.; Sun, Y.; Gruhn, B.; Hanenberg, H.; Schindler, D.; Stem Cell Transplantation in Fanconi Anemia - Recent Advances with Alternative Donors: Eyrich, M.; Winkler, B.; Schlegel, P.G.; Fanconi Anemia Genes in Vertebrates: Evolutionary Conservation, Sex-Linkage, and Embryonic Expression of FANCC and FANCG in Avian Cells: Nanda, I.; Buwe, A.; Wizenman, A.; Takata, M.; Haaf, T.; Schartl, M.; Schmid, M.; Studying Homologous Recombination in Fanconi Anemia: Demuth, I.; Digweed, M.; Functional Knock-Down of Human RAD51 for Testing the Fanconi Anemia-BRCA Connection: Rio, P.; Hanenberg, H.; Author and Subject Index.