10 ms·

I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions

by huac 7y ago

I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions in revenues they'll make.

buboard 7y ago
Thats absurd. She neither created nor detected the mutation. I agree that dna patents should not exist though. We share so much of it.
- justinclift 7y ago
  She, or her parents, literally created the mutation they're researching. "Accidentally" as part of a natural process for sure. But that doesn't take away the validity of them being the creators of it.
  - dekhn 7y ago
    Understood- what if, after developing the drug you find these mutations occur spontaneously elsewhere in the world population- do all those people also get a cut? Figuring how to do this is non-trivial.
    - justinclift 7y ago
      Agreed. Doesn't mean "too hard, thus ignore" is the right approach though. ;)
echelon 7y ago
They won't earn anything. This might lead to discovering a receptor or metabolic pathway mechanism for attack, but the mutation isn't a part of any solution that will be distributed to patients. This mutation is merely a suggestion for a gradient in solution space to explore. In case you're thinking that this variant of the gene can be introduced into Alzheimers patients, that is impossible. You can't safely deactivate metabolic pathways at runtime in a single cell, much less a whole organism. And especially not in a critical organ such as the brain. And how would you introduce the new gene and ensure that the correct dosing is delivered? This type of thinking stems from a lack of familiarity with biochemistry, the molecular biology of genetics, and cell physiology.
- gzer0 7y ago
  You must not be familiar with the drug Onasemnogene abeparvovec. This is administered for spinal muscular atrophy patients. Patiens with SMA have a mutation in their SMN1 gene which causes decreased SMN protein. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. Upon administration, the AAV9 viral vector delivers the SMN1 transgene to the affected motor neuron, where it leads to an increase in SMN protein. The point is, while research innovation regarding gene therapy, CRISPR CAS9, etc takes time and money, it IS indeed possible. Your post suggests a type of thinking that stems from an abundance of ignorance.
  - mattkrause 7y ago
    > stems from an abundance of ignorance. Ouch. In their defense of their 'ignorance' of gene therapy, Zolgensma was just approved this spring, it's literally one of two in vivo gene therapies, and it's only approved for kids < 2, which is a developmentally special sort of group. On the other hand, they're almost certainly correct that there's no straight path from this one patient to a therapy. For SMA, we've known about the affected genes for nearly 30 years (https://www.ncbi.nlm.nih.gov/pubmed/2320125 https://www.ncbi.nlm.nih.gov/pubmed/2320125). The pathways are not totally trivial--there's some weirdness involving alternative splicing--but it's not impossible to wrap your head around what goes wrong. For AZ, we have no idea. Untold amounts of blood and treasure have been sunk into the idea that plaques were the problem, and despite some promising initial data, that hasn't panned out[0]. This is exciting because it suggests a new set of pathways to explore. The rest is hype and speculation: I'd be gobsmacked if there were a viable therapy in the next ten years. [0] Or maybe not. Biogen seems to be taking yet another whack at it.
- busyant 7y ago
  > You can't safely deactivate metabolic pathways at runtime in a single cell While I generally agree with your sentiment that it would be remarkably difficult to genetically modify the brain tissue of an adult, you have no idea if your statement is true or not. In fact, this is the whole point of CRISPR and similar forms of "gene therapy." Yes. You probably can't modify the genome of all cells in a large multi-cellular organism like us, but there may be ways of modifying selected/important tissues. > This type of thinking stems from a lack of familiarity with biochemistry, the molecular biology of genetics, and cell physiology. This is not warranted either.

by huac 7y ago

I wonder if one of the major pharma companies will develop an anti-dementia drug from this finding, and then if she (or her family) will see any of the billions in revenues they'll make.

buboard 7y ago

Thats absurd. She neither created nor detected the mutation. I agree that dna patents should not exist though. We share so much of it.

justinclift 7y ago
She, or her parents, literally created the mutation they're researching. "Accidentally" as part of a natural process for sure. But that doesn't take away the validity of them being the creators of it.
- dekhn 7y ago
  Understood- what if, after developing the drug you find these mutations occur spontaneously elsewhere in the world population- do all those people also get a cut? Figuring how to do this is non-trivial.
  - justinclift 7y ago
    Agreed. Doesn't mean "too hard, thus ignore" is the right approach though. ;)

echelon 7y ago

They won't earn anything. This might lead to discovering a receptor or metabolic pathway mechanism for attack, but the mutation isn't a part of any solution that will be distributed to patients. This mutation is merely a suggestion for a gradient in solution space to explore. In case you're thinking that this variant of the gene can be introduced into Alzheimers patients, that is impossible. You can't safely deactivate metabolic pathways at runtime in a single cell, much less a whole organism. And especially not in a critical organ such as the brain. And how would you introduce the new gene and ensure that the correct dosing is delivered? This type of thinking stems from a lack of familiarity with biochemistry, the molecular biology of genetics, and cell physiology.

gzer0 7y ago
You must not be familiar with the drug Onasemnogene abeparvovec. This is administered for spinal muscular atrophy patients. Patiens with SMA have a mutation in their SMN1 gene which causes decreased SMN protein. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. Upon administration, the AAV9 viral vector delivers the SMN1 transgene to the affected motor neuron, where it leads to an increase in SMN protein. The point is, while research innovation regarding gene therapy, CRISPR CAS9, etc takes time and money, it IS indeed possible. Your post suggests a type of thinking that stems from an abundance of ignorance.
- mattkrause 7y ago
  > stems from an abundance of ignorance. Ouch. In their defense of their 'ignorance' of gene therapy, Zolgensma was just approved this spring, it's literally one of two in vivo gene therapies, and it's only approved for kids < 2, which is a developmentally special sort of group. On the other hand, they're almost certainly correct that there's no straight path from this one patient to a therapy. For SMA, we've known about the affected genes for nearly 30 years (https://www.ncbi.nlm.nih.gov/pubmed/2320125 https://www.ncbi.nlm.nih.gov/pubmed/2320125). The pathways are not totally trivial--there's some weirdness involving alternative splicing--but it's not impossible to wrap your head around what goes wrong. For AZ, we have no idea. Untold amounts of blood and treasure have been sunk into the idea that plaques were the problem, and despite some promising initial data, that hasn't panned out[0]. This is exciting because it suggests a new set of pathways to explore. The rest is hype and speculation: I'd be gobsmacked if there were a viable therapy in the next ten years. [0] Or maybe not. Biogen seems to be taking yet another whack at it.
busyant 7y ago
> You can't safely deactivate metabolic pathways at runtime in a single cell While I generally agree with your sentiment that it would be remarkably difficult to genetically modify the brain tissue of an adult, you have no idea if your statement is true or not. In fact, this is the whole point of CRISPR and similar forms of "gene therapy." Yes. You probably can't modify the genome of all cells in a large multi-cellular organism like us, but there may be ways of modifying selected/important tissues. > This type of thinking stems from a lack of familiarity with biochemistry, the molecular biology of genetics, and cell physiology. This is not warranted either.