
A Scientist Finds Her Child’s Rare Brain Illness Stems from the Gene She Studies - robg
https://www.nytimes.com/2018/04/23/health/genes-mutation-foxg1-brain.html
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micro_cam
By my read she had only a passing knowledge of the gene as any researcher in
her field would before a colleague suggested it might be worth looking at and
she confirmed a single nucleotide mutation and started to study the gene in
more depth.

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phyzome
But where "her field" is "brain genetics, specifically around FOX genes".
Fairly specific.

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bhouston
I'd worry that this was somehow acquired rather than just random. If it is
exceedingly rare, I always worry it isn't a coincidence but rather a yet not
understood method of transmission.

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jadedhacker
Possible, but unlikely. Single nucleotide changes to DNA are very common.
Every single person born has multiple altered base pairs ("SNPs") and acquires
more throughout their life (this is in part how cancer develops).

DNA is pretty interesting. It's kind of like reading a binary file in that
every three base pairs constitutes a "codon" or the code for an amino acid, a
building block of a protein. In this case, a base pair was knocked out via one
of many unfortunate methods, and this causes a "frameshift error".

This is kind of like if you have an array of xyz vertices (common in 3d
graphics) xyzxyzxyz and then you suddenly delete one: xzxyzxyz. If you try to
read that file, you'll get unintelligible artifacts. Unfortunately, that's
what happened to the little girl's gene. Depending on where the error occurs,
more or less of the gene is read incorrectly. Sometimes if you're lucky, it
occurs near the end and it might not be a big deal, but if it happens at the
beginning or middle, the entire protein is messed up.

Anyways, I hope that helps illuminate what's happening here if you weren't
already aware.

I'm not a professional biologist, but I sometimes act like one. Please correct
me if I got a detail wrong. :)

EDIT: I should mention the reason why those changes don't hurt most people is
that there's a lot of non-coding DNA that serves various functions such as
structural, can promote the activation of other genes, could be part of
disabled viral genomes, and then there's the fact that DNA is a degenerate
code (some codons code for the same amino acid). There are probably many other
categories that I didn't mention too.

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mirimir
Sure, spontaneous point mutations are very common. They account for many
spontaneous abortions. But spontaneous point mutations in the Forkhead box G1
(FOXG1) gene are _not_ very common. And scientists researching FOXG1 are
_also_ not very common.

But then, correlation is not causation. And this could well reflect selection
bias.

And unless she was working with some vector carrying defective mouse FOXG1
genes, the probability that this particular defect would get transmitted is
small.

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SiempreViernes
I take the title as telling me there are a lot of lab biology going on in the
world (and that many of them are women).

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Retric
I think your correct. 3 billion base pairs so with ~3 mutations per person
it's 1/billion per child per location. But, lots of children (~2 per
researcher and many researchers), lots of valid locations as researchers study
many specific locations etc.

IMO, odds of something like this happening is fairly high.

PS: I don't think gender means anything here as the same story would get out
if it was a male researcher.

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arkades
It’s also not a random draw. Genes that have a significant impact on human
development are the ones that cause disease - and by extension, draw the
attention of researchers.

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xstartup
I think the Human mind has the ability to control genes. So, if you focus much
on a single gene, you can unlock its ability.

Some people have gained "superhuman" abilities with meditation-like practises
in past.

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Bajeezus
There is literally no scientific evidence to support this. How does one even
"focus" on a gene? Please keep ultra-low effort comments away, thanks.

