作者: James A. Walker , Jean Y. Gouzi , André Bernards
DOI: 10.1007/978-3-642-32864-0_34
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摘要: NF1 is a highly variable and unpredictable disease. Symptom-specific genetic modifiers have been implicated as important determinants of disease development progression. The identification genes that affect outcome continues to be an research goal, in part because improving the predictability might allow stratification patients for clinical trials well reducing patient anxiety. Additionally, knowing identity modifier reveal mechanisms responsible symptoms identify novel therapeutic targets. fruit fly, Drosophila melanogaster, has used model over century, functions many evolutionarily conserved were first defined this species. genome includes single dNF1 gene, loss-of-function mutants several phenotypes, including overall growth deficiency learning/memory defects, both which resemble human symptoms. In chapter, we review what learned 15 years research, how recent work identified at least one promising new target, other knowledge obtained relevant those interested NF1.