As a monogenic blood disorder with potential survival disadvantage, Fanconi anemia has long been considered an attractive target for conventional gene therapy but success has been elusive. Consequently, there has been increasing interest in developing techniques to catalyze correction of...
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This is a training grant for a medical geneticist from Mexico City, who will develop a registry and subsequently a cohort of patients with FA who reside in Mexico. The project addresses one of the research priorities of the FARF:
Fanconi anemia increases the risk of cancer as individuals' age. This is likely due to defects in the Fanconi DNA repair pathway that lead to the formation of rare cancer-causing mutations. Fanconi anemia individuals are defective in both copies of...
Fanconi anemia is caused by mutations in number of genes involved in DNA repair. Two key players are genes called FANCD2 and FANCI. These genes serve as central regulators of the Fanconi DNA repair pathway. Dr. Deans and others have...
In the field of rare diseases it is extremely difficult to perform clinical trials with new chemical entities without prior information on bioavailability, dose and safety in humans. Drug repurposing is the application of known drugs and compounds to new...
It has long been recognized that gene-environment interactions influence the clinical course of individuals with FA, yet the underlying mechanisms remain elusive. Drawing on this labs deep expertise in protein folding diseases this project proposes a pragmatic approach to address...