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Experimental evolution to resolve pathogenic penetrance


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Experimental evolution to resolve pathogenic penetrance

The focus of my research is to understand the mechanism of incomplete penetrant cancer causing mutations.

Penetrance is defined as the probability that an individual carrying a pathogenic mutation will become sick because of it.

In my research, I apply selective pressure on C. elegans bearing a mutation over many generations.

Desired outcome will be the stabilization of the wild type phenotype for subsequent understanding of the compensatory mechanism. Better understanding of the mechanisms underlying incomplete penetrance will allow clinicians to predict disease onset and severity, and could lead to the development of drugs that mimic the compensatory mechanism.