3 ms·

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

by 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.

by gzer0 7y ago

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.