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Hunting Down My Son's Killer It's pretty long, but a good read if you've got the time. Hunting Down My Son's Killer Quote:
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something perfect to read while at work tomorrow :) |
Forsure a good read on the way to work:P |
:suspicious: Expected a good read... Read the first few paragraphs, then skimmed through it and realized it's nothing what I had expected. Someone in Biology would find this very fascinating though! :pokerface: |
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more like a biology textbook |
Thought it was an actual murder case or something, which it wasn't, but it was still a good read. The excerpt at the end about science making the impossible, possible is very true. The solution to everything is out there, it only takes pushing the boundaries of our knowledge to get it. SEMI TL;DR for everyone: Mother and Father BOTH have a gene mutation that makes them produce less of an enzyme that they do not know about. Because they are both different mutations but do the same thing, their children have a 1/4 chance of having both of those mutations, meaning they produce little to zero of this enzyme. Parents suffer three years of trying to figure out what was wrong, exome (as opposed to genome) sequencing finds the gene mutations in parents and then the resulting mutation in the child. Answer and solution is synthesizing the enzyme for the child, which has already been done and patented by med company, but not yet FDA approved. FULL TL;DR: Baby has unheard-of disease/set of symptoms. This is first case that has made it anywhere in terms of parents not giving up. Reason found three and half years later; each parent has a different genetic mutation that result in producing less of a certain enzyme, baby has gotten both of these mutations, causing him to produce none of it. Cure is found, patented, but not yet FDA approved. |
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