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waserwill | 4 years ago

This reminds me about a time when some geneticists tried to find genes associated with a particular disease, to try to unravel why it occurs. Complex trait, no single answer, so they genotyped thousands of people with and without the disease, and ran the stats. And... nothing.

What has one common name is actually several similar diseases, and the geneticists would have known that if they paid attention to the clinicians. Listening and incorporating knowledge is key.

[I'm thinking of an early glaucoma GWAS, IIRC, though there are similar cases.]

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evandijk70|4 years ago

I think this story is very, very common. Still, some complex diseases (eg. Cystic fibrosis, Down syndrome) do turn out to be simple on a genetic level, so there is some merit to this approach.

Moreover, there is currently no better way to understand diseases genotyping thousands of people with and without the disease and 'running the stats', so it's worth the try