A new conceptual framework for investigating complex genetic disease | Genetic Disorders

 Blogger's Note: some interesting observations eg. BRCA/Lynch Syndrome amongst others

Frontiers (open access)

 Concluding Remarks

The primary, perhaps only reason we should harbor hopes that such a framework is correct, is that it would make it considerably easier to define and develop routes to therapy, as this could be specifically targeted against the single causative monogenic factor within families. Such hopes of course have little or nothing to do with scientific reality and it is very possible that the framework presented here is incorrect. The jury is still very much out for the polygenic rare-variant hypothesis, and the previous overwhelming consensus regarding the polygenic common-variant hypothesis was, for most intents and purposes, wrong. I thus feel rather apprehensive to conclude with a comment regarding how likely it is for this proposed framework to hold true to fact. However, the framework appears broadly consistent with recorded observations past and present, and if correct, the potential benefits are huge; testing of the model is clearly incumbent.