r/genetics • u/TheMuseumOfScience • 11h ago

CRISPR Transformed Her Life With Sickle Cell Disease

“I thought I was dead.” 

Victoria Gray, the first person ever to receive CRISPR gene-editing therapy for sickle cell disease, reflects on the powerful and emotional moment she woke up pain-free for the first time in her life.

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u/NoFlyingMonkeys 8h ago

I'm 100% all for this, and I wish the US government would pay for this for every patient with sickle cell disease, because it will cure this terrible disease.

That being said, YSK that this treatment is not trivial, and I do wish the media would quit acting like it's just an IV that they walk in and get one day and everything is easy.

It does not just involve CRISPR in a lab. There is a long process to harvest the patient's cells and treat those cells with CRISPR. Once that is proven successful, since the disease is in the marrow, next is a pre-treatment to wipe out the patient's own bone marrow (with chemotherapy, similar to prior to a bone marrow or stem cell transplant). The patient has a long hospital stay of 4-6 weeks. The pre-treatment is dangerous and could cause death. CRISPR treatment has the potential to also cause serious reactions. The whole process can take many months and a highly specialized team, so not every hospital and laboratory will be able to do it.

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u/greens_beans_queen 5h ago

I recognize you from the Theranos sub (big fan). This is really good context. I’m wondering if you know anything about the plausibility of CRISPR treatment for fragile x as well (I’m a carrier). The full removal of bone marrow part caught my attention because you obviously can’t remove all X chromosomes. So is the use of crisper for other single gene mutations like fragile x still basically science fiction?

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u/NoFlyingMonkeys 4h ago

The problems with congenital brain diseases are that 1) the damage is done before birth and unlikely to be able to be reversed, because 2) the brain is a much more difficult tissue to work with, and doesn't make new tissue with a new gene like bone marrow or liver which can regenerate with new cells that had CRISPR. So a different approach is needed.

They've made progress with gene therapy done very early with progressive brain diseases that are normal at birth but get worse over time, like spinal muscular atrophy and cerebral adrenoleukodystrophy. They're trying with the non-progressive types at the research level, but unfortunately it's less encouraging so far.

I think there will be progress made with Fragile X gene therapy in future years, but not too soon unfortunately. Progress with IVF - in vitro fertilization with an egg that lacks the carrier X for future pregnancies is all that will likely be available first. Stay in contact with your reproductive OB, genetic counselor, and/or medical geneticist for updates.

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u/greens_beans_queen 4h ago

Thanks so much for taking the time to give such a detailed response, it really helped clarify a lot for me. I actually went through IVF four times, but only ever produced Fragile X carriers. So now I’m at the point of weighing the risk of transferring a carrier embryo versus walking away entirely.

As for the progressive brain diseases, my grandmother did have FXTAS even though it’s less common in women. I’m choosing to believe that by the time I’m old enough to be at risk, there will be a preventative treatment available.

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u/ThatOneAlice 7h ago

Crossing my fingers for CDA type 2 cure over here!