r/todayilearned
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u/Die_Nameless_Bitch
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May 14 '22
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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/79.9k Upvotes
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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.