Lev Fedorov
posted 9 months ago
Bioinformatician / Computational Biologist with a passion for CRISPR optimization

You need to check out this paper: Biallelic DAW1 variants cause a motile ciliopathy...

Twitter is my best friend and when I was goofing off researching the other day, I stumbled upon an interesting genomics paper. Now, I'm not the best in this field but even I can understand that there are certain aspects of our DNA that go entirely unnoticed, hence the purpose of the paper in question:

The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

So, basically a rare genetic disease that affects our cells is at fault for things like asymmetry, infertility, and chronic respiratory issues. Furthermore, about 30% of patients - maybe even more!- with this disease are going unnoticed, undiagnosed. Cool, right? Okay, but this is their conclusion:

Our data define biallelic DAW1 variants as a cause of human motile ciliopathy and determine that the disease mechanism involves motile cilia dysfunction, explaining the ciliary beating defects observed in affected individuals.

Alright, we know disease exists, now we've taken steps to target one of its causes! Things like this make the day look a bit brighter to me

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