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> Sickle Cell protects against malaria I knew being heterozygotic for sickle cell helped. Does having two copies of the gene have a net benefit? ... Wiki seem

> Sickle Cell protects against malaria I knew being heterozygotic for sickle cell helped. Does having two copies of the gene have a net benefit? ... Wiki seems to say no: "The protective effect of sickle cell trait does not apply to people with sickle cell disease; in fact, they are more vulnerable to malaria, since the most common cause of painful crises in malarial countries is infection with malaria." https://en.wikipedia.org/wiki/Sickle_cell_disease#Malaria_prevention https://en.wikipedia.org/wiki/Sickle_cell_disease#Malaria_pr...

DoreenMichele 6y ago
Yes, Sickle Cell trait exists in that area because it is protective. Sickle Cell Disease occurs when someone has two copies of the gene and having two copies goes bad places. Maybe I am missing something and the plan here is to leave Sickle Cell trait alone and only subject people with Sickle Cell Disease to what amounts to genetic experimentation. I find that ethically questionable, but perhaps there are people who think that makes sense. To me, fixing this means getting rid of the mutation. The mutation exists because it is protective. If you remove that protection without first removing the reason it exists, I find that also morally questionable. First, eradicate malaria from the region. Then eradicate the trait. You could reduce incidence of the disease dramatically without coming up with Frankensteinian medical experiments by testing everyone for the trait as a condition of getting a marriage license and trying to get carriers to stop breeding with other carriers. It would be a social intervention, not a medical intervention, and it's completely humane. Of course it wouldn't make headlines as being ooh, shiny new tech and some people would no doubt have a cow about it for some reason or other, like "What right do you have to tell me whom I can love?" But as someone with a different homozygous recessive disorder (who also has a child with the same thing), that was more or less my policy after I was diagnosed and was getting a divorce. I didn't wish to risk getting pregnant by a carrier again, so I did what I could to protect myself against that scenario.
- ampdepolymerase 6y ago
  You are correct in understanding that the Gates foundation should clarify their timelines. I am not sure why you have been downvoted for this. The economic and health impacts of malaria versus sickle cell diseases ought to be decided by the individual. If the person has no plans to immigrate and if his or her country is stuck in a perpetual resource trap with no ability to combat malaria, then the cure (eradicating sickle cell anemia) may be more harmful than beneficial.
  - DoreenMichele 6y ago
    Most people haven't really thought about the problem space in a comprehensive fashion and don't see the interconnections. The modern view tends to be "What pill/medical treatment fixes X disease" and looking at it in a larger context of how that disease even occurs to begin with flies in the face of those mental models. Throw in words like ethically questionable and some folks will probably hit the downvote button in knee jerk response to perceived "SJW" stuff without trying to understand the point of the comment.
  - s1artibartfast 6y ago
    They were likely downvoted for making the faulty assumption that gates is trying to eliminate the protective gene, opposed to their actual intent to eliminate the sickle cell disease, which makes people more vulnerable to malaria.
  - Tagbert 6y ago
    Also likely downvoting due to the arm-chair analyst’s assumption that professionals working on curing sickle cell disease would be unaware of the protections offered by the mutation and would simply eliminate the mutation without some provision to not increase the malaria risk.
- s1artibartfast 6y ago
  >Maybe I am missing something and the plan here is to leave Sickle Cell trait alone and only subject people with Sickle Cell Disease to what amounts to genetic experimentation. I think you are missing some context. Most if not all gene therapies do not eliminate the heritable trait. In this case, The the gene therapy would alter the DNA causing the disease in the bone marrow, not the reproductive DNA in the testes or ovaries. It doesn't help that articles and speakers use sickle cell to refer to both the disease and gene. To me, social controls on who can marry and who can breed with who are much less humane than offering experiential gene editing to sick and willing people. This would be followed by offering tested and proven gene editing to sick and willing people. >that was my policy after I was diagnosed and was getting a divorce. I think that is a reasonable and cost effective solution, but there are other options. For those with the means, embryonic screening is an option. In the future, it may be possible to remove all negative symptoms from the homozygous carrier. There is also the topic of dominant genetic disorders like huntington's disease, which can not be prevented in children by screening partners. Without medical solutions, these people can not have children without risk. With genetic medical intervention, the carriers as well as their children can be spared from an awful degenerative disease.
  - DoreenMichele 6y ago
    I don't actually think I'm missing that context. I'm just struggling to cross the giant gap between the baked in assumptions in my mind and the baked in assumptions out in the world and there never seems to be a good way to do that. Trying to be diplomatic about it ends up making me "look stupid." Trying to be confident about my views ends up making me look like a narcissistic and contemptuous asshole who thinks everyone else is stupid. My mental framing for the space is different than yours. That doesn't, per se, mean I'm wrong or stupid. My mental framing is rooted in having lived with a genetic disorder my entire life and having raised a child with the same disorder and getting diagnosed late in life. The problem space for a dominant genetic disorder like Huntington's Disease is fundamentally different from that for a recessive disorder. Mental models for how to address them should be fundamentally different as well. So telling me "That doesn't work for a dominant disorder" isn't really a valid rebuttal of anything I've said. I'm not suggesting it as policy for dominant disorders.

DoreenMichele 6y ago

Yes, Sickle Cell trait exists in that area because it is protective. Sickle Cell Disease occurs when someone has two copies of the gene and having two copies goes bad places. Maybe I am missing something and the plan here is to leave Sickle Cell trait alone and only subject people with Sickle Cell Disease to what amounts to genetic experimentation. I find that ethically questionable, but perhaps there are people who think that makes sense. To me, fixing this means getting rid of the mutation. The mutation exists because it is protective. If you remove that protection without first removing the reason it exists, I find that also morally questionable. First, eradicate malaria from the region. Then eradicate the trait. You could reduce incidence of the disease dramatically without coming up with Frankensteinian medical experiments by testing everyone for the trait as a condition of getting a marriage license and trying to get carriers to stop breeding with other carriers. It would be a social intervention, not a medical intervention, and it's completely humane. Of course it wouldn't make headlines as being ooh, shiny new tech and some people would no doubt have a cow about it for some reason or other, like "What right do you have to tell me whom I can love?" But as someone with a different homozygous recessive disorder (who also has a child with the same thing), that was more or less my policy after I was diagnosed and was getting a divorce. I didn't wish to risk getting pregnant by a carrier again, so I did what I could to protect myself against that scenario.

ampdepolymerase 6y ago
You are correct in understanding that the Gates foundation should clarify their timelines. I am not sure why you have been downvoted for this. The economic and health impacts of malaria versus sickle cell diseases ought to be decided by the individual. If the person has no plans to immigrate and if his or her country is stuck in a perpetual resource trap with no ability to combat malaria, then the cure (eradicating sickle cell anemia) may be more harmful than beneficial.
- DoreenMichele 6y ago
  Most people haven't really thought about the problem space in a comprehensive fashion and don't see the interconnections. The modern view tends to be "What pill/medical treatment fixes X disease" and looking at it in a larger context of how that disease even occurs to begin with flies in the face of those mental models. Throw in words like ethically questionable and some folks will probably hit the downvote button in knee jerk response to perceived "SJW" stuff without trying to understand the point of the comment.
- s1artibartfast 6y ago
  They were likely downvoted for making the faulty assumption that gates is trying to eliminate the protective gene, opposed to their actual intent to eliminate the sickle cell disease, which makes people more vulnerable to malaria.
- Tagbert 6y ago
  Also likely downvoting due to the arm-chair analyst’s assumption that professionals working on curing sickle cell disease would be unaware of the protections offered by the mutation and would simply eliminate the mutation without some provision to not increase the malaria risk.
s1artibartfast 6y ago
>Maybe I am missing something and the plan here is to leave Sickle Cell trait alone and only subject people with Sickle Cell Disease to what amounts to genetic experimentation. I think you are missing some context. Most if not all gene therapies do not eliminate the heritable trait. In this case, The the gene therapy would alter the DNA causing the disease in the bone marrow, not the reproductive DNA in the testes or ovaries. It doesn't help that articles and speakers use sickle cell to refer to both the disease and gene. To me, social controls on who can marry and who can breed with who are much less humane than offering experiential gene editing to sick and willing people. This would be followed by offering tested and proven gene editing to sick and willing people. >that was my policy after I was diagnosed and was getting a divorce. I think that is a reasonable and cost effective solution, but there are other options. For those with the means, embryonic screening is an option. In the future, it may be possible to remove all negative symptoms from the homozygous carrier. There is also the topic of dominant genetic disorders like huntington's disease, which can not be prevented in children by screening partners. Without medical solutions, these people can not have children without risk. With genetic medical intervention, the carriers as well as their children can be spared from an awful degenerative disease.
- DoreenMichele 6y ago
  I don't actually think I'm missing that context. I'm just struggling to cross the giant gap between the baked in assumptions in my mind and the baked in assumptions out in the world and there never seems to be a good way to do that. Trying to be diplomatic about it ends up making me "look stupid." Trying to be confident about my views ends up making me look like a narcissistic and contemptuous asshole who thinks everyone else is stupid. My mental framing for the space is different than yours. That doesn't, per se, mean I'm wrong or stupid. My mental framing is rooted in having lived with a genetic disorder my entire life and having raised a child with the same disorder and getting diagnosed late in life. The problem space for a dominant genetic disorder like Huntington's Disease is fundamentally different from that for a recessive disorder. Mental models for how to address them should be fundamentally different as well. So telling me "That doesn't work for a dominant disorder" isn't really a valid rebuttal of anything I've said. I'm not suggesting it as policy for dominant disorders.