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kalesaji t1_ivsvz0u wrote

Will this mutation reappear in her offspring later down the line? Genetic diseases have the nasty habit of being passed down. Will this treatment be necessary for her children as well?


personAAA t1_ivsxu0o wrote

The child has two broken copies.

If she has kids, it depends on husband's DNA. If he has two normal copies, all her children are carriers. If husband has it, all kids get it. If husband a carrier, 50% odds kids get it.


Ggfd8675 t1_ivvh5to wrote

She still has the mutation. They didn’t do anything to alter her genes. The breakthrough here was being able to administer the missing enzyme to her in utero. Previously, they’ve given this enzyme treatment soon after birth, when much damage was already done during fetal development. She will receive the treatment for the rest of her life, unless they invent a new therapy.

The actual paper is paywalled, so I’m going off of the linked reporting.


megamogul t1_ivvk50y wrote

It sounds like this mutation might be dominant, meaning she will pass down one copy of her mutant genes (the one that causes the disease) and her children will need the same ETF treatment.