Comments
Brain_Hawk t1_jc4ikrt wrote
I'm not calling it worthless, because these gene association studies are important, but it's a long way from paving the way to new treatments.
Most genetic associations are very weak and do not point to pathways of treatment. If they did we would be doing better with a lot of disorders.
News wants flashy headlines and dramatic progress. Real science is hard and painstaking grinding work.
But it gets there eventually.
iGroucho96 t1_jc571v0 wrote
association is not causation
DrCunningLinguistPhD t1_jc57ozf wrote
So you didn’t read the paper? The study found genes that could be drug targets to treat both endometriosis and epithelial ovarian cancer.
Brain_Hawk t1_jc58ayp wrote
"Identified signals explained up to 5.01% of disease variance "
I'm not going to read a whole genetics paper. I'm not saying it's bad research, this sort of work is important. But it is often oversold. They identified a candidate set of genes using a large publicly available data set, which often has minimal patient specific information on most disorders. I should have read more of the abstract but I stopped, I'm pretty sure they ran a gwas. Those identify associations but not causes. They're an important start point, but it's a very far lead from identifying. Some genes that are related to is disorder with a relatively small effect size and to building a treatment target that has any widespread application
I'm not stating any objection to what the researchers did, but I have a long standing objection to results like this being massively oversold both in the media and by the scientists themselves. It's very tempting, especially if you get a splash in nature paper. But it builds a lot of false hope, and it's unlikely that any of these candidate genes will see clinical trials and the next 10 years if ever
The most positive outcome for these papers, In my not too humble opinion , is that the identify potential targets for future more directed studies, they can examine the association with those specific genes with that disorder in detail
Edit: Happy the abstract says that too, more targeted studies are needed to confirm and better understand these associations
AirmedTuathaDeDanaan t1_jc5dik7 wrote
The biggest problem is that most doctors don't believe women in pain. I had this debilitating pain for so many years, I had to pass 4 doctor before finding 1 that believe I was in pain and knew it wasn't "just normal periods".
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Matookie t1_jc5rc20 wrote
The fun thing about endometriosis is, you can have arthritis or diverticulitis or cancer even but your doctors will blame the pain on endometriosis so you do not get treated for the other disease.
Killieboy16 t1_jc5xfzr wrote
Glad to see progress being made on this. If we men suffered from this, it'd be cured already...
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SunnyAlwaysDaze t1_jc648j8 wrote
Hey just wanna say thank you for being the type of guy that not only understands this but can openly discuss it. Thank you very much for being you.
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lynx_and_nutmeg t1_jc6d4e9 wrote
A lot of women themselves don't believe their pain is abnormal, though. Women are raised with the idea what periods are meant to be extremely painful and it's just a fact of life. Especially if their mothers, sisters or friends have debilitating periods as well, and that's their only point of reference so of course they assume this must be normal.
I still remember how shocked I was when my periods went from moderately painful to completely painless after a few months of whole food diet. I had no idea it was even possible to have a painless period. (Granted, I definitely did not have endometriosis which is a whole other animal and unlikely to get better without treatment).
fanghornegghorn t1_jc6h4c6 wrote
Genetics studies are just theory. A way to do science that means nothing and helps no one for a long time.
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Brain_Hawk t1_jc7owh4 wrote
Well, there is an emerging field called pharmacogenetics where certain gene characteristics are related to the efficacy or more likely the side effect profile of different medications. There are attempts to bring this into clinical practice, where people can be screened for certain genes which would indicate the potential for more severe side effects for a certain medication, suggesting an alternative should be pursued instead. It's still new, so it's still under development, but it's being done in some research context and will probably be pretty common in about 10 or 15 years
I'll research is difficult and takes a long time and hard work. Very little research helps anybody except for in a long time. But then suddenly it does help, often in dramatic and life-changing ways. But science is hard, and implementation is one of the hardest parts
No_Dragonfly_1894 t1_jc84s4v wrote
Thank goodness. Twenty-five years ago, I had to have everything removed in my 30s, due to severe endometriosis (pain so severe I was suicidal), and I asked questions about it. The doctor said he didn't know a lot. I asked why and he said "no one cares enough about it to research." Glad to hear it's changing.
TTigerLilyx t1_jc8yu76 wrote
Absolutely wonderful breakthru.
Tho when I did the testing, it was called pharmagenomics.
Im a pretty self aware person, so this test verified what I had mostly figured out for myself over my lifetime as to what drugs i could or couldn’t take. My family’s problems with anesthesia & pain meds, specifically.
Im sure it was wildly expensive, but my Dr somehow got it cleared and Im about to try & get it run for my son, who has some ailments that they’re having a terrible time finding drugs that don’t have severe side effects for him. This is the future and one of the biggest advances no one is talking about.
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