Figure 1.

Four conceptually distinct strategies to study the effect of rare human variants linked to human disease using state-of-the-art technologies in Drosophila. (A) Rich genetic resources in Drosophila to perform in vivo functional studies. (B) ‘Humanization’ of fly genes to study variants of interest in the context of the human protein. (C) Introduction of analogous variants into the fly gene of interest. (D) Exogenous over-expression of variant proteins in a wild-type fly. (E) Studying phenotypic and molecular links between fly and human biology to provide diagnoses, understand disease mechanisms and develop potential treatments