[Blueskytech]

I have a friend who has been saved by this and I have two funny points.

CF makes you not process food correctly so you can eat a ton of food and not gain weight. After taking this medicine he was upset because his body started processing food correctly and he put on a bunch of weight initially.

This really is a life saving cure for most general genetic versions of CF but he also remarked that it’s great they found a cure now because it’s basically a white people disease and the amount of funding it got for a cure was likely going to come under scrutiny.

[spondylosaurus]

Re."white people disease," I thought this was a neat excerpt from later in the article (about Parkinson's, to be fair, not CF):

> Njideka Okubadejo, a neurologist at the University of Lagos in Nigeria, welcomes the award announcement. Okubadejo, Singleton — who leads the Global Parkinson’s Genetics Program — and others have identified a new genetic risk factor for Parkinson’s disease in the GBA1 gene in people with African ancestry that is rarely seen in those of European descent7. “The next step is to find a biological mechanism by which the gene causes the disease,” Okubadejo says. “Then you can build upon that to reduce the likelihood of the disease occurring.”

The distribution of random genes among ethnic subgroups is always an interesting glimpse into the situational tradeoffs that certain genes bring. Like how the gene that causes sickle cell anemia is really good for malaria resistance... but it also gives you sickle cell anemia. Which might actually be a decent tradeoff when malaria is a constant threat, so you can imagine why it's prevalent in areas where malaria-carrying mosquitos flourish.

Or you hear about different HLA subtypes where like, one variation offers some kind of useful trait or immunity, but it also brings an increased risk of skin cancer, but the people who carry that gene generally lived in an area without much sun and so it was still a net advantage. Until modern times, when those people have descendants across the globe...

Also, very glad to hear your friend's doing well :)

[pcchristie]

Another interesting link is that between mental health issues (schizophrenia, bipolar) and "elite" creativity and the risk of losing the latter if we can ever gene edit the former out of our genome.

Siddhartha Mukherjee talks about this in The Gene.

[samus]

Fortunately, it seems that there is a huge set of genes that affect intelligence, which hopefully makes it impossible for the forseeable future to develop a gene-therapy for them. Diseases like cystic fibrosis are low-hanging fruits compared to that.

[trollian]

We were just talking about Kurt Cobain's death from suicide with my daughter with CF. We'll take the meds thanks.

[trollian]

There's a theory that having a single CF mutation can help combat the effects of cholera.

[dghughes]

> because it’s basically a white people disease

White and mostly male. My local university or more precisely certain students wanted to drop CF as a cause to support due to those factors. Pretty disgusting and it was quickly dismissed for what it was. The uni still supports and fund-raises for a CF cure.

[samus]

CF has a higher incidence in populations of northern European descent, but there is no gender gap there. There is only a so-far unexplained difference in life expectancy that reduces the life expectancy of females surviving to adulthood, which creates the impression that this it mostly affects males.

[syndicatedjelly]

Wow who is this committee scrutinizing which diseases should be cured based on the race that it most affects?

[DoreenMichele]

It's not a cure and I think the idea is more like "It's an extremely expensive disease and a tiny number of people get it and if it weren't a predominantly Caucasian disorder, no one would be okay with spending this kind of money on it."

[JumpCrisscross]

> if it weren't a predominantly Caucasian disorder, no one would be okay with spending this kind of money on it

It has nothing to do with race and everything with money. When ebola came to America, we didn’t find a vaccine because it was infecting white people. We funded it because it was impacting Americans.

[DoreenMichele]

That's not going to stop some people from saying "The white people are throwing money at this because it's a Caucasian condition."

Historically, male diseases got studied more than female diseases, probably having nothing to do with sexism per se. Most physicians and researchers were male, so they were interested in things relevant to their lives.

But that doesn't stop people from crying "Sexism!" about it.

[Gibbon1]

I did a quick search.

Sickle cell disease, effects 1 in 365, 90,000 suffers. Federal Funding $812. Foundations $102

Cystic Fibrosis, effects 1 in 2500, 30,000 suffers. Federal Funding $2807. Foundations $7690

https://jamanetwork.com/journals/jamanetworkopen/fullarticle...

[JumpCrisscross]

> not going to stop some people from saying "The white people are throwing money at this because it's a Caucasian condition."

Some people will always say wrong things. I’ve found it helpful to focus on those who are speaking truthfully, and seeing if I can amplify or even help them.

[DoreenMichele]

It's not necessarily entirely wrong. Celine Dion is an advocate for the condition because one or more of her relatives had the condition (and died young from it).

"Coincidentally," she's white.

Celebrities somewhat often advocate for a condition they or a relative have. If it has a genetic component associated with a particular ethnicity, well, you are going to find people of that ethnicity advocating for it.

So it's not outright crazy talk to say the condition gets the amount of funding it gets because it's a Caucasian disorder.

It's unfortunate that it can potentially be spun as some form of racism. I long ago concluded that as someone with a form of CF, my "white privilege" includes a lifetime of suffering that most people will happily discount when hating on white people for historic racism.

We fight over an offence we did not give against those who were not alive to be offended.

-- Kingdom of Heaven

And in Take the Lead the main character says something like "Even if you can find someone to blame, it doesn't fix the problem."

Hating on whites doesn't fix the problem. Maybe someday we can find some other reaction to history and our unhappiness with it and our desire to have a future unlike our often ugly past.

[Scoundreller]

donors

[mortureb]

Funding

[samus]

It occurs less often in other ethnic groups, but not rarely enough that the therapy should be considered irrelevant for them. The f***ked up part is that Trikafta's producer does not make it available to developing countries and tries to block generic alternatives.

[odiroot]

> CF makes you not process food correctly so you can eat a ton of food and not gain weight.

Is it just quickly extracted as stool?

[paulpauper]

why can't a weight loss treatment be created harnessing a similar effect . dial down the pancreases so food does not digest as well

[contravariant]

Trying to mess with any part of the metabolism is going to have consequences.

You can even take a more direct route and make the body just burn more energy. Works perfectly well, technically doesn't have any side effects, though you have to take into account that burning energy results in heat.

And in all cases homeostasis is just going to attempt to return to normal as soon as possible. You need to somehow break the loop of your body wanting more energy to maintain its weight. This is a lot trickier because the checks and balances are everywhere and affect everything.

[loeg]

> You can even take a more direct route and make the body just burn more energy. Works perfectly well, technically doesn't have any side effects, though you have to take into account that burning energy results in heat.

Historically, https://en.wikipedia.org/wiki/2,4-Dinitrophenol .

[danielheath]

Very glad we have eg CSIRO comparing how well various methods overcome that homeostasis and publishing their results.

Successful weight loss has been totally life-changing for me, and being able to access reliable info on what works long term was a key part of it.

[jacquesm]

The real pay-off of weight loss is later in life when your joints and tendons will not be worn to bits.

[Scoundreller]

And less likely to break bones (butttttttt (pun intended?) less padding against impact). So maybe that part's a draw.

[tux3]

Most weight loss treatments have terrible side-effects. GLP-1 is working pretty well as a target now, but all the other ideas didn't turn out so simple after all, and there were a lot of ideas for weight loss drugs

[Scoundreller]

In my opinion orlistat (blocks fat absorption) isn't that bad if you actually follow the suggested low-fat diet. But if you're hoping to counteract a pint of ice cream, it's going to work tooooo well. The Public Relations was a nightmare... never stood a chance. The jokes were too good.

[arthur2e5]

Acarbose blocks starch (and sucrose, to some extent) absorption. Instead of oily poop you get dry smelly gas that hopefully goes down over time. Starch & sucrose is not as big a part of American caloric intake as fat, but it can still help cut some of that out.

(Just sucrose. HFCS has glucose and fructose, which means sucrase doesn't need to work. Not a meaningful difference in most people considering how fast sucrase works, but when you block sucrase...)

[paulpauper]

so does obesity have bad side effects. we need more answers. GLP -1 is a good start

[DoreenMichele]

Better idea: Focus on eating high nutrition, low cal foods (relatively speaking). Skip or limit the empty calories.

If you have CF, you become seriously ill in part because you are effectively seriously malnourished. I suspect many overweight people are also effectively malnourished and don't know it because their body turns the empty calories into fat.

[paulpauper]

if this actually worked, why so so many dieters fail? if this works so well, someone could make a diet program out of it, it would be super-effective and would sell billions. obviously easier said than done.

high nutrition, low cal foods (relatively speaking)

this is sorta contradictory. calories are nutrition.

[DoreenMichele]

From what I gather, dieters frequently count calories rather than tracking nutrients. If you are already deficient and try to limit your intake of food and it worsens your deficiency, at some point you are likely to spaz and stuff your face in desperation.

[heywhatupboys]

physics work

therefore diets work

[rolisz]

Except there are some weird feedback loops in the body, such as restricting calories leading to reduced calorie consumption, leading to less weight loss than expected.

[heywhatupboys]

no. literally conservation of energy. humans cannot beak the laws of nature. calories in > calories out

[ramraj07]

The issue is this is like nicking an engine oil tube to decrease the car mileage. In principle it could work but you really need to nick the right tube at the right place. We have been nicking things everywhere for decades but finally with glp-1 and sglt2 inhibitors we found the right ones. A bit serendipitously.

[samus]

Cystic fibrosis clogs the pancreatic ducts, which eventually causes irreversible damage to that organ. Because of that, many CF patients also develop diabetes. Sounds like a terrible way to downregulate the pancreas.

[datavirtue]

Terrible side effects.