They have plenty of publications, most of which are "we found genes assoicated with <X>".
Unfortunately, association studies don't tell you much beyond "there is a correlation between X and Y" which typically needs to be followed up with a lot more research. It's not even clear that association studies really pay their way- they cost a lot and produce associations, but the link to disease treatment is often very poor.
it's really a shame nobody has truly shown a very convincing way to convert genotyping/genomics and medical records into better treatment.
>it's really a shame nobody has truly shown a very convincing way to convert genotyping/genomics and medical records into better treatment.
ugh..I am being downvoted for asking what makes this particular discovery significant . I am really curious, what are some of your thoughts on what makes this particular correlation different.
Basically, the reason this is not significant is that there is no way to turn gene-disease associations into treatments. At best, it helps you focus on a gene target, but as you can see, this gene's protein product is an important player that has a role far beyond preventing/causing (or affecting the severity of) disease.
What's different (and it's not particularly different) is that this PR is in response to a social media challenge, the research was partly funded by it. Whether that means anything is hard to say- I don't really see ice bucket challenges scaling up to many diseases.
It's a demonstration that even in a niche most people wouldn't think of, drug administration, there's already dozens of cost-effective medical uses, and the number is going up as more research is done and sequencing goes down.
Unfortunately, association studies don't tell you much beyond "there is a correlation between X and Y" which typically needs to be followed up with a lot more research. It's not even clear that association studies really pay their way- they cost a lot and produce associations, but the link to disease treatment is often very poor.
it's really a shame nobody has truly shown a very convincing way to convert genotyping/genomics and medical records into better treatment.