A major limitation in FA research is the absence of an animal model that faithfully recapitulates the clinical features of this disease in humans. While mice have the characteristic DNA repair defects, they do not spontaneously develop the progressive anemia or acute leukemia seen in many patients. …
In the past funding period of the OHSU Fanconi Anemia Program Project we succeeded in discovering new drug targets and small molecules for FA therapy. All of these candidates have clinical potential and we are on the threshold of new interventions for this severe disease. The key goal of the project…
Since many FA patients also suffer from diabetes and insulin resistance, the research proposed in this application is designed to determine the function of Fanconi anemia proteins in the endocrine pancreas. This study will analyze the dynamic features of FA protein expression and response to glucose…
All living cells form formaldehyde and acetaldehyde through normal metabolism (also from food and alcohol consumption). However, these aldehydes also induce severe DNA damage, which must be tolerated or repaired to prevent diseases. Currently, ~1 billion people in the world have difficulty in detoxi…
In an attempt to explain the high frequency of head and neck cancers in FA patients we have examined differences in the behaviour and signaling pathways of oral epithelial cells (cells that line the oral cavity) lacking Fanconi gene function. Experimental reduction of expression of FA-__A and FA-__C…