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Developmental disorders are severely understudied, in spite of their alarmingly high incidence, with 1 in 6 U.S. children having one or more disabilities or developmental delays. The main challenge is the design of statistically powered studies that can disentangle numerous genetic and environmental factors. We have been working towards addressing this challenge for the developmental abnormalities associated with the germline mutations within the ERK cascade. Focusing on mutations that affect MEK, a kinase that activates ERK, we demonstrated how studies of human mutations in Drosophila can answer the long-standing questions in the field. Specifically, we established how pathogenic mutations affect an isolated MEK protein, demonstrated how they disrupt the normal process of MEK activation in the cell, and quantified their effects on ERK signaling in embryos. More recently, our work shed light on the origins of phenotypic variability in the ERK-associated developmental disorders, demonstrating that they can be of purely stochastic origin. Given the generality of our approach, it should be applicable to other developmental abnormalities associated with genetically deregulated cell signaling.

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