7 ms·

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 weigh

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 3y ago
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 3y ago
  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.
  - trollian 3y ago
    We were just talking about Kurt Cobain's death from suicide with my daughter with CF. We'll take the meds thanks.
  - samus 3y ago
    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 3y ago
  There's a theory that having a single CF mutation can help combat the effects of cholera.
paulpauper 3y ago
why can't a weight loss treatment be created harnessing a similar effect . dial down the pancreases so food does not digest as well
- tux3 3y ago
  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
  - paulpauper 3y ago
    so does obesity have bad side effects. we need more answers. GLP -1 is a good start
  - Scoundreller 3y ago
    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 3y ago
      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...)
- ramraj07 3y ago
  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.
jimbob45 3y ago
[flagged]
syndicatedjelly 3y ago
Wow who is this committee scrutinizing which diseases should be cured based on the race that it most affects?
- Scoundreller 3y ago
  donors
- mortureb 3y ago
  Funding
- DoreenMichele 3y ago
  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 3y ago
    > 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 3y ago
      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.
      - JumpCrisscross 3y ago
dghughes 3y ago
> 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 3y ago
  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.
odiroot 3y ago
> 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?
samus 3y ago
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.

spondylosaurus 3y ago

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 3y ago
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.
- trollian 3y ago
  We were just talking about Kurt Cobain's death from suicide with my daughter with CF. We'll take the meds thanks.
- samus 3y ago
  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 3y ago
There's a theory that having a single CF mutation can help combat the effects of cholera.

paulpauper 3y ago

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

tux3 3y ago
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
- paulpauper 3y ago
  so does obesity have bad side effects. we need more answers. GLP -1 is a good start
- Scoundreller 3y ago
  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 3y ago
    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...)
ramraj07 3y ago
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.

jimbob45 3y ago

[flagged]

syndicatedjelly 3y ago

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

Scoundreller 3y ago
donors
mortureb 3y ago
Funding
DoreenMichele 3y ago
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 3y ago
  > 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 3y ago
    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.
    - JumpCrisscross 3y ago

dghughes 3y ago

> 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 3y ago
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.

odiroot 3y ago

> 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?

samus 3y ago

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.