3 ms·

I recently watched the two videos on this (that I'm aware of) and it's the first time gene therapy didn't strike me as macabre Frankensteinian experiments on vu

I recently watched the two videos on this (that I'm aware of) and it's the first time gene therapy didn't strike me as macabre Frankensteinian experiments on vulnerable people who will say "yes" to all kinds of crazy stuff out of desperation. Cystic fibrosis significantly impacts gut function and many people with it do poorly with dairy products. I could see this and/or some variation of this being valuable therapy for the CF community while we wait for better answers. Although best known as a deadly lung disorder, the impact on gut function is a major problem that just gets less press but is something people with CF and their loved ones fret about a whole lot. I think if you could do something to improve gut function fairly quickly and semi permanently, you would likely reduce a lot of their other issues as well because people with CF are typically underweight, sometimes severely underweight, and their chronic malnourishment is a major underlying source of their inability to fight off infection.

jjoonathan 5y ago
> it's the first time gene therapy didn't strike me as macabre Frankensteinian experiments on vulnerable people That's because it has barely begun to become viable IRL while science fiction writers have been using it as a convenient punching bag for decades -- without ever stopping to ask if they should.
- DoreenMichele 5y ago
  No, that's because I have a form of cystic fibrosis and I know what I and others like me have been willing to do in the face of that and because I'm aware of real world experiments done on people who were seen as less than human for some reason, such as the Tuskegee syphilis experiments done on Black Americans and horrifying experiments done on people in concentration camps in Nazi Germany. https://en.m.wikipedia.org/wiki/Tuskegee_Syphilis_Study https://en.m.wikipedia.org/wiki/Tuskegee_Syphilis_Study https://encyclopedia.ushmm.org/content/en/article/nazi-medical-experiments https://encyclopedia.ushmm.org/content/en/article/nazi-medic...
ohbleek 5y ago
CFTR modulators have completely transformed CF treatment for +90% of patients. Gene therapy is a possibility, however, with there being +1000 possible mutations that can lead to CF, it’s not the clear cut candidate that some of the other rare genetic disorders are right now. The cynic in me also thinks that with CFTR modulators costing ~350k/year, drug companies may not feel incentivized to run the risky gene therapy trials and patients may not want to participate given the dramatic improvement in their lives with current therapy options.
- deleted 5y ago
  [deleted]
- DoreenMichele 5y ago
  That honestly doesn't fit with my understanding of how life, the universe and everything works. I did some searching and this source says that 85 percent of people with CF have at least one F508del mutation: https://pediatricsnationwide.org/2019/11/25/a-major-milestone-in-cystic-fibrosis-treatment/ https://pediatricsnationwide.org/2019/11/25/a-major-mileston... And this source agrees with your statement: The triple therapy, known as Trikafta, could effectively treat 90% of people with cystic fibrosis. https://pediatricsnationwide.org/2019/11/25/a-major-milestone-in-cystic-fibrosis-treatment/ https://pediatricsnationwide.org/2019/11/25/a-major-mileston... When I was on CF lists, I was hearing that the first drug in this class that had recently come out only helped five percent of people with CF (I was specifically hearing that it helped people who were double F508del and that was only five percent of all CF patients, IIRC) at a cost of at least $250k annually, so "if you can afford it or live in a country that covers that for you." I was also hearing people say that some of the stats were dummied up and exaggerated because so much money was at stake. I left all the CF lists years ago. The figures I'm seeing today don't fit with what's in my head and I don't know how to sort out what's true and what's PR nonsense and it doesn't really matter to me personally. I and my son with CF are both off all drugs and have lived on very little money for years. Good for them. I'm sure this makes me even more irrelevant, "crazy" and stupid in the eyes of the world than I was already. Which is no big deal. I don't really care. I'm just leaving this comment because I asked you for a citation and then found my own and deleted my comment. I don't want people to think I'm being a weasel or anything. The articles I'm finding seem to agree with you. I don't know what to make of that and it's not really relevant to my life. I will never have the money for these drugs and don't really care. Have a good day.

jjoonathan 5y ago

> it's the first time gene therapy didn't strike me as macabre Frankensteinian experiments on vulnerable people That's because it has barely begun to become viable IRL while science fiction writers have been using it as a convenient punching bag for decades -- without ever stopping to ask if they should.

DoreenMichele 5y ago
No, that's because I have a form of cystic fibrosis and I know what I and others like me have been willing to do in the face of that and because I'm aware of real world experiments done on people who were seen as less than human for some reason, such as the Tuskegee syphilis experiments done on Black Americans and horrifying experiments done on people in concentration camps in Nazi Germany. https://en.m.wikipedia.org/wiki/Tuskegee_Syphilis_Study https://en.m.wikipedia.org/wiki/Tuskegee_Syphilis_Study https://encyclopedia.ushmm.org/content/en/article/nazi-medical-experiments https://encyclopedia.ushmm.org/content/en/article/nazi-medic...

ohbleek 5y ago

CFTR modulators have completely transformed CF treatment for +90% of patients. Gene therapy is a possibility, however, with there being +1000 possible mutations that can lead to CF, it’s not the clear cut candidate that some of the other rare genetic disorders are right now. The cynic in me also thinks that with CFTR modulators costing ~350k/year, drug companies may not feel incentivized to run the risky gene therapy trials and patients may not want to participate given the dramatic improvement in their lives with current therapy options.

deleted 5y ago
[deleted]
DoreenMichele 5y ago
That honestly doesn't fit with my understanding of how life, the universe and everything works. I did some searching and this source says that 85 percent of people with CF have at least one F508del mutation: https://pediatricsnationwide.org/2019/11/25/a-major-milestone-in-cystic-fibrosis-treatment/ https://pediatricsnationwide.org/2019/11/25/a-major-mileston... And this source agrees with your statement: The triple therapy, known as Trikafta, could effectively treat 90% of people with cystic fibrosis. https://pediatricsnationwide.org/2019/11/25/a-major-milestone-in-cystic-fibrosis-treatment/ https://pediatricsnationwide.org/2019/11/25/a-major-mileston... When I was on CF lists, I was hearing that the first drug in this class that had recently come out only helped five percent of people with CF (I was specifically hearing that it helped people who were double F508del and that was only five percent of all CF patients, IIRC) at a cost of at least $250k annually, so "if you can afford it or live in a country that covers that for you." I was also hearing people say that some of the stats were dummied up and exaggerated because so much money was at stake. I left all the CF lists years ago. The figures I'm seeing today don't fit with what's in my head and I don't know how to sort out what's true and what's PR nonsense and it doesn't really matter to me personally. I and my son with CF are both off all drugs and have lived on very little money for years. Good for them. I'm sure this makes me even more irrelevant, "crazy" and stupid in the eyes of the world than I was already. Which is no big deal. I don't really care. I'm just leaving this comment because I asked you for a citation and then found my own and deleted my comment. I don't want people to think I'm being a weasel or anything. The articles I'm finding seem to agree with you. I don't know what to make of that and it's not really relevant to my life. I will never have the money for these drugs and don't really care. Have a good day.