How exactly do you edit a gene?
Like, it is very, very small thing. How do you even measure it, let alone replace it?
First UK child to receive gene therapy for fatal genetic disorder is now healthy
81–90 of 199 posts
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#82Earlier quoted context omitted.
Yes, it's a virus, specifically a lentivirus, which inserts its own genome into the cells DNA, including the therapeutic gene. Looks like they first extract bone marrow from a patient, apply the virus which adds the gene, then they put the "fixed" bone marrow cells back into the patient (probably after killing most existing bone marrow through some really unpleasant procedures). The re-inserted, treated cells then ex…
I'm confused how this would reduce disease progression compared to a much cheaper allo bone marrow transplant then if they are only modifying hematopoietic stem cells since a BMT is just doing the exact same thing except with someone else's non affected cells. BMTs are a horrific procedure though so this definitely has an advantage in that regard. I would also have to imagine they would have to do myeloablative chemo…
Reading the paper [1], the genetically modified stem cells overexpress the ARSA enzyme. This seems to create a ‘bystander effect’ which increases the total body enzymatic activity above some critical threshold sufficient to arrest the disease process. Myeloid cells associated with neuronal structures are probably critical to this benefit. A standard bone marrow transplant doesn’t reach this threshold, and has demonstrated poor efficacy in early onset disease.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#83> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because she'd already developed symptoms of the disorder.
Holy shit. My god, I'm just thinking of the parents.
"Sorry, we can only save one of your kids."
"You can't give Nala the treatment?"
"Well, we could. We won't, though."
I'm sure there are good reasons, but Jesus, that's harsh.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#84How exactly do you edit a gene? Like, it is very, very small thing. How do you even measure it, let alone replace it?
Viruses do that an astounding number of times a day, every day, don't they? And this treatment uses a virus.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#85> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because she'd already developed symptoms of the disorder. Holy shit. My god, I'm just thinking of the parents. "Sorry, we can only save one of your kids." "You can't give Nala the treatment?" "Well, we could . We won't, though." I'm sure there are good reasons, but Je…
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Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#86you can't just simply state that he's healthy without actually seeing his lifespan
You can be healthy now and developer cancer next year. They're looking at whether this child shows signs of illness, and he doesn't. That's the same definition of healthy that we use for everyone else.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#87> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because she'd already developed symptoms of the disorder. Holy shit. My god, I'm just thinking of the parents. "Sorry, we can only save one of your kids." "You can't give Nala the treatment?" "Well, we could . We won't, though." I'm sure there are good reasons, but Je…
Apparently MLD is not in the standard genetic screening panel that these parents would (probably) have been offered. I guess that's one reason for every couple to do genetic counseling if they can.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#88Earlier quoted context omitted.
The thing that tires me about this old chestnut is that it’s just a shell game and not actually a substantive idea. “Just take money from somewhere else.” It’s akin to saying that we will use the latest AI technology and machine learning to make our value proposition work. It sounds satisfying but it says nothing.
Why would you need to take money from somewhere else? This is misunderstanding how money works for a currency issuer.
It's a very complicated problem, but just printing money usually cause inflation. There is no free lunch.
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#89Earlier quoted context omitted.
Yes, it's a virus, specifically a lentivirus, which inserts its own genome into the cells DNA, including the therapeutic gene. Looks like they first extract bone marrow from a patient, apply the virus which adds the gene, then they put the "fixed" bone marrow cells back into the patient (probably after killing most existing bone marrow through some really unpleasant procedures). The re-inserted, treated cells then ex…
> probably after killing most existing bone marrow through some really unpleasant procedures usually a massive dose of radiation, right?
That or chemo
Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy
#90Unrelated: how is it legal for sites to highjack the back button in this way?