Twenty-second Annual Fanconi Anemia Research Fund Scientific Symposium


Principal Investigator: GROVER CARLTON BAGBY
Abstract: DESCRIPTION (provided by applicant): Twenty-second 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 is a three-day conference comprised of select invited presentations and approximately 35 oral abstract presentations (to be chosen from a call for abstracts) in a single-track format. The Symposium brings together leading researchers and physicians as well as young investigators, graduate and post-graduate students from around the world to discuss all basic, translational, and clinical research aspects of this rare disease. The Fanconi Anemia Research Fund actively encourages and supports attendance and submissions by students and junior investigators. The meeting provides a unique opportunity for investigators to cross-fertilize and 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 Minneapolis, Minnesota in October 2010. PUBLIC HEALTH RELEVANCE: Twenty-second 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). The research focus of FA investigators is broad and goes far beyond a narrow focus on a rare disease. Recent research has established the importance of Fanconi anemia genes in tumor suppression, DNA repair, stem cell function, and suppression of apoptosis and senescence, survival, leukemogenesis and carcinogenesis, and genetic instability - topics highly relevant to DKUHD, NIDDK areas of scientific interest. 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. The Scientific Symposium brings together populations of investigators that would benefit from cross-talk but do not typically or consistently interact. Its relatively small scale and concentrated focus promotes interaction and collaboration between participants across the globe. The meeting provides an excellent training environment for junior investigators and trainees.
Funding Period: ----------------2010 - ---------------2011-
more information: NIH RePORT