I don't really understand what it says. As a layman in this topic, I'm curious if modifications like that can cause other effects?

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derektank 2 days ago | parent | next [-]

It says that they've developed a way to identify the extra chromosome(s) passed to a child by a malfunctioning germ cell, specifically chromosome 21 though presumably this method could be reproduced for other trisomy diseases. This could, most immediately, lead to a therapy that allows a couple that is going through in vitro fertilization to repair a zygote that has trisomy by correcting the number of chromosomes it has, and preventing the resulting child from having Down's syndrome. This is relevant especially for older mothers, who are most likely to produce malfunctioning eggs that result in Down's syndrome

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thaumasiotes 2 days ago | parent | next [-]

> specifically chromosome 21 though presumably this method could be reproduced for other trisomy diseases.

There's no point; other trisomies won't go to term. (Sex chromosomes are an exception, but also don't make the child nonviable.)

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2 days ago | parent | prev | next [-]

[deleted]

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kbelder 2 days ago | parent | prev [-]

At that point, wouldn't they just use a different egg? I'd expect that to be far less costly and less risky than this treatment.

	▲	magicalhippo 2 days ago \| parent \| next [-]
		Harvesting eggs can be a huge strain both physically, emotionally and financially. And if you're older, and thus have elevated risk, you might get just a one or a few eggs per harvest. Now factor in that the success rate of eggs turning into viable embryos that can be transferred back into the mother can be low. Even if you harvest say 10 eggs, a good catch, you may very well end up with just 1-2 viable embryos from those 10 eggs. And that's before considering trisomy as discussed here. The final kicker is that harvesting takes time. You might well only be able to harvest a few times per year. And success rate drops quickly once you're past 38 or so.
	▲	notimetorelax 2 days ago \| parent \| prev \| next [-]
		Older women may not produce that many eggs, if any at all. And each harvest costs multiple thousands, so it’s not all that clear cut.
	▲	derektank 2 days ago \| parent \| prev [-]
		To expand on what notimetorelax said, egg harvesting is a low risk but not a zero risk procedure which involves preparatory hormone injections, twilight sedation, and ultimately sticking a pretty fat needle into the ovaries. There's roughly a 1 in 1000 chance of serious complications for any woman that goes through it. If you're over 40 and your last round of harvesting only produced a handful of eggs cells and all of them with some kind of defect, repairing a damaged egg or zygote would be much less risky for the mother. What exactly the cost of a treatment based upon this discovery would be, I have no idea, but both processes are resource intensive.

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shadowgovt 2 days ago | parent | prev [-]

Hard to say with 100% certainty without a human trial, but the short answer is "probably not." This is a situation where a person has three copies of chromosome 21 in every cell. Shutting one copy down would, hypothetically, leave someone with two working copies. I don't think we have any reason to believe that trisomy is masking some other phenomenon that we won't see until a fetus with this treatment applied fully develops into a newborn.

(And that's of course assuming human trials were authorized. Probably not for this treatment in my lifetime, at least not in the US).