DESCRIPTION (provided by applicant): Twenty-first Annual Fanconi Anemia Research Fund Scientific Symposium. Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia (MDS), acute non-lymphocytic leukemia (AML), solid tumors, and cellular hypersensitivity to cross-linking agents. A unique feature of Fanconi anemia is the development, in early life, of specific epithelial and hematopoietic malignancies usually found only in aging populations. 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 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. Survivors of bone marrow failure ultimately face an extremely high risk of developing squamous cell cancers. The disease is an ideal candidate for gene therapy because of the inherent selectability of complemented stem cells. Broad evidence is being developed that dysfunction of the FA signaling pathways can develop as somatic changes (epigenetic and genetic) in neoplastic cells arising in non-Fanconi patients and that the consequences of such somatic changes suppress self-replicative potential and enhance senescence in progenitor cell pools. The Annual Fanconi Anemia Research Fund Scientific Symposium brings together investigators from around the world to discuss all basic, translational, and clinical research aspects of this rare disease. The meeting provides a unique opportunity for investigators to cross-fertilize and to develop interdisciplinary research projects. Not only will the data be shared freely with all investigators, the files will be made accessible through GeneSifter, an online bio-information tool. This application seeks partial support for this meeting, scheduled to be held in Baltimore, Maryland in October 2009. PUBLIC HEALTH RELEVANCE: Twenty-first Annual Fanconi Anemia Research Fund Scientific Symposium. The Fanconi Anemia Research Fund's Annual Symposia are the only scientific conferences convened that focus on Fanconi anemia (FA). Recent research has established the importance of Fanconi anemia genes in tumor suppression, DNA repair, stem cell function, and suppression of apoptosis and senescence;thus, advances made in FA science have an impact beyond affected patients and families. Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, leukemia, head and neck cancer, lung cancer, and ovarian cancer.
|Effective start/end date||9/30/09 → 8/31/10|
- National Institutes of Health: $50,000.00