Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure (BMF), developmental anomalies, cellular hypersensitivity to cross-linking agents and a high incidence of malignancy including myelodysplasia, acute non-lymphocytic leukemia, and solid tumors. Unique features of FA are the nearly universal development of BMF and a high relative risk of developing, at an early age, specific epithelial and hematopoietic malignancies usually found only in aging populations. Evaluation of adult FA patients reveals a striking incidence of squamous cell carcinomas, especially of the head and neck and gynecological tract. Moreover, the genetic instability of the somatic cells in the FA patient means that exposure to ionizing radiation;environmental carcinogens and chemotherapeutic agents pose unique risks to the patient. The specific biochemical functions of the FA proteins are largely unknown, but many form complexes with each other and in one canonical """"""""pathway,"""""""" 8 of the 16 known FA proteins bind together in a complex that facilitates the monoubiquitination of FANCD2. In vitro and in vivo evidence suggests that at least some of the FA proteins promote survival signaling pathways in hematopoietic cells by forming complexes with signaling molecules. Broad evidence is being developed that dysfunction of the FA signaling pathways can result in somatic changes (epigenetic and genetic) in neoplastic cells arising in FA patients and that FA protein dysfunction can be acquired by several mechanisms in non-Fanconi patients. Treatment options for the multiple pathologies of FA remain limited. Hematopoietic stem cell transplantation remains the treatment of choice for eligible patients with bone marrow failure. However, this disease is an ideal candidate for gene therapy because of the inherent selectability of complemented stem cells. Novel therapeutic options are needed to treat the other FA-related pathologies, including squamous cell carcinomas, particularly as the patients cannot tolerate conventional radiation and chemotherapeutic approaches to malignancy. The 26th Annual Fanconi Anemia Research Fund Scientific Symposium will be held in Bethesda, Maryland, September 18-21, 2014. Approximately 200 researchers and clinicians are expected to participate in the three-day conference comprised of invited keynote and/or special session presenters and approximately 45 oral abstract presentations in a single-track format, interspersed with one or two panel presentations designed for greater interactivity. Approximately 60 additional abstracts may be selected for poster presentations. The Symposium brings together an international assemblage of leading researchers and physicians as well as young investigators to discuss basic science, translational, and clinical aspects of this rare disease. Extended poster session receptions and on-site meals foster ongoing discussion. The meeting provides a unique opportunity for investigators to cross-fertilize and develop interdisciplinary research projects, as evidenced by subsequent research proposals received for the Fund's consideration. No registration fee is charged. Travel expenses are reimbursed for oral abstract presenters, key-note speakers and special session participants. Limited travel support is available upon request for poster presenters who would otherwise be unable to attend. This application seeks support for travel costs for speakers, key personnel, and young investigators to attend this important conference.

Public Health Relevance

The annual Fanconi Anemia Research Fund Scientific Symposium is the only major scientific conference that focuses exclusively on Fanconi anemia (FA) and provides both clinical and basic science perspectives. The importance of the FA genes, including BRCA2, in tumor suppression, DNA repair, stem cell function, and suppression of apoptosis and senescence has been well established and therefore study of these genes has had an impact extending well beyond patients and families affected by this rare disease. In addition to the insights into marrow function and failure, aging, radiation sensitivity and other areas of broad scientific and clinical interest, acquired abnormalities of FA gene expression have been reported in patients with sporadic malignancies of the blood, head and neck, lung, ovary, and breast. (End of Abstract)

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Conference (R13)
Project #
Application #
Study Section
Special Emphasis Panel (ZHL1)
Program Officer
Chang, Henry
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Fanconi Anemia Research Fund, Inc.
United States
Zip Code