Expanding the spectrum of SNAREopathies – STX1A in epilepsy and neurodevelopmental disorders

SNAREopathies. This post continues the series on SNAREopathies, a group of neurodevelopmental conditions caused by variants in genes encoding components that form the SNARE complex and regulatory proteins. As previously described, the SNARE complex is the molecular machinery driving synaptic vesicle release in the presynapse, which enables communication between neurons. Here, we expand the discussion to the second t-SNARE protein of the SNARE core complex, STX1A, and provide a brief review of the recent paper implicating STX1A in epilepsy and neurodevelopmental disorders.

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Welcome to Rare Variant Island

Gamification. Genetic epidemiology is probably one of the driest and most boring fields of genome science that you will encounter. However, there are some basic questions that keep on puzzling me. One of them is about rare variants: if we think of rare variants that are present in patients, but also in controls, how could a combination of rare variants ever fully explain a disease? What are the rules, what are the conditions for such a situation? I happened to play around with R yesterday, and caught by a wave of gaming spirit, I wanted to try and see. I created a virtual population with 1 million people where disease risk is almost fully explained by 300 rare variants – a little genetic SimCity that I will call Rare Variant Island. Follow me through some of the adventures in our new empire and see what happens. Continue reading