Submitted by 29PiecesOfSilver t3_yqxoei in science
haemaker t1_ivrafub wrote
They have had five children. Two did not have it, three did, and two of them died...and they plan to have more children?
Perhaps they should use IVF and screen for the defect before torturing more children?
LoverlyRails t1_ivrcy7f wrote
The article says a pregnancy was terminated due to the disorder and the couple doesn't plan to have any more children.
Not every disorder can be screened for using IVF, perhaps this is one of them.
Oligodendroglia t1_ivrjp5j wrote
They are usually able to detect the mutated gene from the mother via genetic sequencing and the same with the father, so they can determine exactly where the mutation occurs in both sets of DNA. They then build a probe to detect this mutation on a small sample of the embryo. The only time I’ve heard of the probe failing is if the parents were closely related. So it’s likely that they can do this via IVF. Source: did IVF with genetic testing for an autosomal recessive disease
zebediah49 t1_ivs7brd wrote
Mildly worth noting:
While relatively straight forward from a research-project standpoint, I'd be impressed to see that done clinically with less than a six-digit pricetag.
[deleted] t1_ivserk0 wrote
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Oligodendroglia t1_ivt388b wrote
Yes, absolutely. IVF is not cheap and unfortunately insurance does not cover it most of the time (in the US). The genetic testing on top of the IVF for my case was an additional $6,800. Typically a round of IVF could cost anywhere from 15-25k, depending on medications, clinic, additional surgical procedures, etc. it’s not very accessible in the US.
Blondeambitchion t1_ivtge7y wrote
This couple is in Ontario so they likely paid very little if anytime at all.
iammissx t1_ivsmmms wrote
There are some genetic diseases that are are extremely difficult if not impossible to detect. I know of a case where the parents were not at all related but lost two children at a year old to a genetic disease which was undetectable. It really is a harrowing world.
[deleted] t1_ivs2k65 wrote
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FlyingApple31 t1_ivs55wh wrote
No, this is at the DNA level so it's pretty straightforward.
And in case you are wondering, I am a PhD doctor and DNA/genetic testing is in my field of expertise.
...And my guess is the same can be said of someone whose handle is a play on "Oligos", which are synthetic DNA building blocks for this kind of work.
QuesoDeAzul t1_ivs70h9 wrote
Their name is a twist on oligodendrocytes, which are a type of glial cell.
FlyingApple31 t1_ivs8p5m wrote
Ha! Ok, well Neuro is not my field XD
[deleted] t1_ivt6egn wrote
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[deleted] t1_ivt7frf wrote
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atypicalfemale t1_ivs2udx wrote
The article states that prenatal tests can detect this disease. It showed that their child would have it.
Fickle-Locksmith9763 t1_ivss5eb wrote
The article says
€Both parents carry a recessive gene for Pompe disease, which means there’s a 1 in 4 chance that a baby will inherit the condition. Bashir said their decision to proceed with additional pregnancies was guided by their Muslim faith.
Zouden t1_ivsvqj8 wrote
That was for this child. They are done having kids now, per the article.
Fickle-Locksmith9763 t1_ivt7fpc wrote
Yeah, but that’s why they had three first.
grom_icecream t1_ivshvv4 wrote
Good luck having that option in the US ever again
Redqueenhypo t1_ivs2nru wrote
Many orthodox and also non orthodox ashkenazi Jews get preemptively screened for Tay-Sachs disease before getting married for this reason, bc dying painfully before age 5 is considered to be a bad
crimsonblod t1_ivszw3k wrote
As a layman, that sounds EXTREMELY specific. Is there a reason those groups in particular choose to do this? Or is this a case of “many groups do this, those are just the groups you’re most familiar with”?
fucklawyers t1_ivt10cc wrote
It’s a very, very small gene pool of very, very closely associated people.
dinosaurs_quietly t1_ivt1ecy wrote
Their risk factor is much higher than other groups.
QVCatullus t1_ivtoywn wrote
Tay-Sachs is famously much more prevalent among Ashkenazi Jews, not because it cares about your religion, but because it's a rare recessive disorder, so both of your parents have to happen to be carriers to pass it on. As a result, it will naturally be more prevalent in any smaller interbreeding population where it happens to become slightly more prevalent by chance. Historically, due both to internal and external pressure (i.e. religious encouragement to marry other Jewish persons as well as generations of Jews being cut off as outsiders from the majority populations in many places where the Ashkenazim have lived), Ashkenazim have been more likely to marry and reproduce with other members of the same closed group than with the wider population, so chance occurrence of Tay-Sachs somewhat above the norm dramatically increases the (still small, but the disease is so terrifying it's worth preparing around) chance of it appearing in offspring.
It's not only an "Ashkenazi disease"; other relatively closed groups have higher incidences, like French Canadians and Cajuns, and some Amish groups.
If the reference to Ashkenazim is what makes it sound remarkably specific, be aware that this simply means more or less "Jews of Germany" and in practice means even more broadly the Jewish diaspora population of most of Northern, Central, and Eastern Europe; the Jews whose ancestors likely spoke Yiddish -- as opposed to, say, the Jewish populations of Iberia, the Sepharadim, or the Mizrahim in the rest of the Mediterranean, sometimes grouped as part of the Sepharadim. As such, it means a very broad swath of the Jewish population, and in particular a group to which most Jews in the US belong, since so many emigrated from Central and Eastern Europe to the United States.
ETA: I worded the 2nd paragraph under the mistaken recollection that the Cajun population had inherited their propensity from French Canadian ancestors, but a bit of reading just now says that apparently the two are demonstrably not related, since the genetic mutations among the Canadian and Cajun groups are different. Apologies for being misleading, but that means that they should be considered two distinct semi-closed populations where prevalence is higher.
ninjahexparty t1_ivvh7e5 wrote
you should write papers. this was really informative and interesting.
QVCatullus t1_iw19tzd wrote
Thanks, I appreciate it!
crimsonblod t1_iwoqgup wrote
I’m a bit delayed, but thank you for the response! It was very interesting!
[deleted] t1_ivv5xe9 wrote
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OrangeKuchen t1_ivuiovi wrote
Intake paperwork for obstetrician’s offices specifically ask if either parent is an ashkenazi Jew. It’s a specific concern for that particular race due to a genetic bottle neck in their ancestral population.
Scarlet109 t1_ivv5kn8 wrote
The Jewish people have what we (Jews) call “close knit communities” which result in “intercommunal breeding”. It’s not nearly as bad as it sounds, but it does increase the concentration of certain genetic traits. You can see examples of this in purebred animals. Pugs, for example, didn’t always used to look like their faces got smooshed up against the window and as a result of breeding that specific trait, nearly all purebred pugs have serious health issues, especially when it comes to breathing.
dullaveragejoe t1_ivrxg27 wrote
Article says they believe "accepting what comes is part of [their Muslim faith."
stiletto929 t1_ivs4as6 wrote
Or use different sperm so both parents don’t have the deadly recessive gene! There is a 25% chance of each fetus having it. But they kept trying due to their religious faith. That ain’t it.
birdieponderinglife t1_ivsa42m wrote
Oh please, you think men are interested in using another man's sperm to make their baby? From experience doing fertility treatments men are a barrier. Often. Won't do the sperm analysis-- what if he finds out that he's not the virile sex god he thought he was?!?!?!?!?!?! Won't agree to using another man's sperm ("then it won't be my baby"). Would rather put their wife through painful and invasive testing to see if she's "the problem" before taking any hits to his ego or putting in the smallest effort. It's ridiculous. I can't imagine deeply religious men being more reasonable about this.
[deleted] t1_ivsqxdn wrote
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Prince_John t1_ivsp9v0 wrote
Good job projecting your issues onto the couple in the article.
birdieponderinglife t1_ivt13gs wrote
It’s not “my issue” since I’m a lesbian. I’ve seen it go down enough times for others doing fertility treatments to know it’s a thing. This particular couple “left it up to god” and luckily for them science saved their child.
Prince_John t1_ivt85bd wrote
I meant your man hating issues.
birdieponderinglife t1_ivtin7p wrote
Male fragility in full display here folks.
[deleted] t1_ivtun0v wrote
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holiholi t1_ivs9321 wrote
ivf cannot detect all defects
GunslingerSTKC t1_ivsfz80 wrote
The accusations of eugenics run wild when you attempt such a feat
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