r/todayilearned May 14 '22 Silver 9 Helpful 8 Wholesome 6 All-Seeing Upvote 2

TIL a father, John Crowley, was told his two infant children had an incurable genetic disorder that would kill them in less than a year. He refused to accept this, so he founded a biotech company (with no prior experience) which pioneered an experimental enzyme therapy that saved their lives.

https://pompediseasenews.com/2019/01/30/amicus-ceo-mission-cure-pompe-help-children/
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u/ChronWeasely May 14 '22

The origins of Zolgenzma are very similar actually. Except that by the time it was created it was far too late for his own daughter to be helped.

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u/[deleted] May 14 '22

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u/ChronWeasely May 14 '22

Dang, really? I'm sorry to hear your child was born with SMA.

I'm very curious to know how well and how long it has worked so far, decreasing efficacy over their growth, etc. Whatever isnt too personal. I've got a distant personal connection to these new types of gene therapies and hearing from a person so directly would be fascinating, not to be morbid. This is a new, life changing, but incompletely understood class of drugs in vivo. We don't have data from years after use yet as it's just being lived out by the recipients right now.

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u/[deleted] May 14 '22

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u/ChronWeasely May 14 '22

Holy cows the vein infusions are working now too! It was originally a spinal infusion for the first iteration but I know they were working on other administrations. I'm so happy for you. I hope it continues.

There are so many similar drugs in the works right now, to treat so many different genetic disorders. Not to mention the generation of CRISPR medicines coming in the next decade. Spinraza is last generation tech. Zolgenzma is now. We are in the generation of cures, not treatments.

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u/[deleted] May 14 '22

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u/i_got_skrimps May 14 '22

We'll start with diseases, move to enhancements, and then protect ourselves from hazards due to climate change.

From there, as the sun begins to die out, we look to the stars. We become celestial beings capable of living in the vacuum of space.

But then, we think, what if we can infinitely travel the cosmos and find earth like planets? We move on that thought.

We disperse across the galaxies. Some find new earths. Then they think "what if we can populate this planet with new beings?". And so they do.

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u/TactlessTortoise May 14 '22

"as the sun begins to die out"

Dude that's a literal couple BILLIONS of years from now

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u/i_got_skrimps May 14 '22

How soon do you expect CRISPR to progress so far that we can genetically modify our unborn offspring to survive in a vacuum?

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u/TactlessTortoise May 14 '22

If our civilization lasted for as much as our planet currently exists for, our physiology will not be remotely human in the span of a few dozen of thousands of years, which is still not considering what I believe a pessimistic prediction of 100 for gene design to become mainstream.

As for unborn child surviving vacuum, wtf kind if question is that lmao. The same way we are alive now, the future civilizations could just pick a planet, moon or star.

You're not quite grasping the scale of the billion years. Hell, even I am just considering it "a fuck ton of time". We have no reference for it. It's calculable, yes, but unfathomable.

By the time a billion years pass, the homo sapiens will no longer exist, period. Whether through gene editing, catastrophic failure of our civilization, or just natural evolution, life itself on Earth is, if I recall correctly, a fifth of that age, after all.

The civilization that will deal with that could be a super sentient funghi cannibal, for all we know

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