DESCRIPTION (provided by applicant): Fanconi anemia is a rare hereditary disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia (MDS), acute non-lymphocytic leukemia (AML), and solid tumors, and cellular hypersensitivity to cross-linking agents. The function of the proteins is largely unknown but many form complexes with each other and in one canonical "pathway" eight of the eleven known Fanconi anemia (FA) proteins bind together in a complex and monoubiquitinate FANCD2, one of the proteins not in the core complex. There is in vitro and in vivo evidence that at least some of the FA proteins also promote survival signaling pathways in hematopoietic cells by forming complexes with signaling molecules. Stem cell transplantation is the treatment of choice for eligible patients with bone marrow failure and squamous cell cancers develop in many of the survivors of bone marrow failure. The disease is an ideal candidate (because of the inherent selectability of complemented stem cells) for gene therapy. Broad evidence is being developed as well that dysfunction of the FA signaling pathways can develop as somatic changes (epigenetic and genetic) in neoplastic cells arising in non-Fanconi patients. Each year the Fanconi Anemia Research fund provides grant support for investigators, family support, family retreats, special consensus conferences, and a well-attended international Fanconi anemia research symposium. This annual symposium brings together investigators from around the world to discuss all basic, translational, and clinical research aspects of this disease. The meeting provides a unique opportunity for investigators to cross-fertilize and to develop interdisciplinary research projects. One nearing completion, funded initially by the FA Research Fund and subsequently through the NHLBI Microarray Center grant support, is the International Fanconi Anemia Transcriptome Consortium, final results of which will be presented at the October 2006 meeting. Not only will the data be shared freely with all investigators, the files will be made accessible to anyone through GeneSifter, an online bioinformatics tool that can be used from on-line analysis. This application seeks partial support for this meeting, scheduled to be held in Bethesda in October 2006.
|Effective start/end date||9/30/06 → 8/31/07|
- National Institutes of Health: $20,000.00
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