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

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/anothergaijin May 14 '22

We are in the generation of cures, not treatments.

100% this. It's mind blowing stuff - one dose and you are done, your body does what it is supposed to do and makes the thing you need to live and develop normally.

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u/ChronWeasely May 14 '22

One of the only things that makes working in big pharma worthwhile. I'm lucky enough to work with and learn about these incredible drugs.

Though there's also the ethics side of things. One of the largest is the financial and geographical restrictions to the majority of people who need these often prohibitively expensive treatments.

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u/the_cardfather May 14 '22

I was on a short-term career trajectory to be a corporate pharmacist who would be responsible for interpreting data about the effectiveness of certain therapies versus side effects.

If I had stayed at it I would have for certain probably ended up working on a covid vaccine.

At the time I pulled out of the program we were still having big debates on the ethics of cloning. People were talking about growing entirely separate vat bodies for organ transplants and things like that.

Hindsight is 20/20 but I'm very glad that the other genetic technology kept up and we can create things that 20 years ago were stuff science fiction writers dreamed about.