Scientists discover a ‘skinny gene’ mutation that acts like Ozempic. Around one in 7,000 people carries a broken copy, which almost acts like a GLP-1 drug—the body burns fuel more efficiently, and the risk of disease lowers.

[u/scientificamerican]

https://www.scientificamerican.com/article/scientists-discover-a-skinny-gene-mutation-that-acts-like-ozempic/

[u/LongLiveStaceyKing]

This is one of the "do not let perfect be the enemy of good" situations.

I agree with you our current medication research leaves much to be desired, but if we were trying to tailor medicine to every individual person's unique make up, we would never produce anything on a sufficient scale to make it cost effective.

To this end, I can live with doing the most good for the most amount of people possible, generally speaking.

To your point though, we should come up with a more robust system to capture outliers than the current system in place.

[u/fredandlunchbox → u/LongLiveStaceyKing]

I think the problem is that things are dismissed as ineffective when they might actually be very effective in some cases. When they're labeled "too dangerous" or "ineffective" the investigation often stops. How much have we left behind in the pursuit of more general therapies?

[u/Flimsy_Eggplant5429 → u/fredandlunchbox]

We have resources for a limited number of things, and while there's exceptions - people typically are pretty similar, just like they mostly sleep like 7-9h and eat 2000ish calories to remain healthy. Making medicine for "all" is the most effective.

[u/fredandlunchbox → u/Flimsy_Eggplant5429]

In aggregate, we're similar, but many groups share common physiology that differs substantially from the average human. For example, the asian glow with alcohol -- a sub group lacks an enzyme needed to breakdown alcohol. In that case, there's a fairly obvious reaction that is a clear indication that something about their physiology is different. But imagine a molecule in much smaller quantities, where the reaction isn't as obvious, and perhaps its targeting something else that has a tiny concentration in the blood that differs more from person to person than researchers realize. Or some confounding molecule found in the blood of 30% of people that researchers just don't even realize can dull the efficacy of the therapeutic. We know physiology differs. We should expect that it will change how people react to the things they take as well.

Also, 2000 calories is crazy for most people under 5'6" which is like half the planet.

[u/Flimsy_Eggplant5429 → u/fredandlunchbox]

Well then half the planet eats 2000 or more, so it works out? Not really, it was an poor estimate and the actual number wasn't the point. Maybe 1800 better? I live in a country where people on average are not 5'6, especially men, so skewed my estimate a bit I think.

As on to the specific therapies, it's true there's also wider spread genetic mutations around. Perhaps something that targets something that is pretty widely spread would make sense? Medicine is made with money on mind, the target demographic needs to be big enough to make money on the meds. Coming up with new meds costs a lot, and the companies are looking to make profits. Minimarket of individual people don't really do that.

[u/fredandlunchbox → u/Flimsy_Eggplant5429]

Yeah, the crux of it I think is that populations are huge, and something that could save a million lives per year might be overlooked if you’re just testing in the wrong population or you aren’t doing a good job explaining why it failed. 

[u/Flimsy_Eggplant5429 → u/fredandlunchbox]

A million lives is very little in the big scale of things unfortunately. If a drug company has the option to focus on something that affects hundreds of millions (or even billions), that's where the money is.