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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?

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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.

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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

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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.

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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.

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Blondeambitchion t1_ivtge7y wrote

This couple is in Ontario so they likely paid very little if anytime at all.

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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.

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[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.

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QuesoDeAzul t1_ivs70h9 wrote

Their name is a twist on oligodendrocytes, which are a type of glial cell.

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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.

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Scarlet109 t1_ivs8g5e wrote

Hence why they partook in the clinical trial

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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.

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Zouden t1_ivsvqj8 wrote

That was for this child. They are done having kids now, per the article.

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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

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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”?

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fucklawyers t1_ivt10cc wrote

It’s a very, very small gene pool of very, very closely associated people.

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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.

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crimsonblod t1_iwoqgup wrote

I’m a bit delayed, but thank you for the response! It was very interesting!

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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.

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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.

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dullaveragejoe t1_ivrxg27 wrote

Article says they believe "accepting what comes is part of [their Muslim faith."

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[deleted] t1_ivs25i1 wrote

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[deleted] t1_ivsfikb wrote

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[deleted] t1_ivsue9p wrote

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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.

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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.

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Prince_John t1_ivsp9v0 wrote

Good job projecting your issues onto the couple in the article.

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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.

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GunslingerSTKC t1_ivsfz80 wrote

The accusations of eugenics run wild when you attempt such a feat

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socialphobic1 t1_ivrwhd3 wrote

Can someone explain enzyme replacement therapy?

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bigglyboblee t1_ivrycfl wrote

Many genes encode enzymes. A mutation in a gene may result in a defective enzyme (protein) product. Enzymes catalyze biochemical reactions , so not having a particular enzyme can have dire consequences physiologically. In enzyme replacement therapy, a functional version of the enzyme is given to the patient like a medication.

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FedXFtw t1_ivs8fuh wrote

Do they also take enzyme blockers to block production of the defective enzyme?

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SippyTurtle t1_ivs9092 wrote

Generally the defective enzymes don't do anything, and that's the problem. If they don't do what they're supposed to, you don't get the chemical reaction and thus don't get the end product you need. So to answer your question, no, enzyme blockers aren't needed.

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TheXtraReal t1_ivspcir wrote

This. I cannot speak on the article directly ,I am not a doctor.

I have a rare medical syndrome. I produce an excessive amount of histimine (MCAS) but my body no longer produces the enzyme in the digestive tack, so I cannot process histimine. I'm under 40 in age.

This results in, almost all the time just me, being allergic to me. DAO help, for my specific aspect but it's not 100%, more like maybe 30-40%>.

Recap, outside of my over production. I cannot produce the enzyme to combat the over production, let allow normal levels. So when I eat, more often than not. I go into sezuires and anaphylaxis.

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SippyTurtle t1_ivsr63k wrote

That's awful. I've had one patient with it as well so I'm a bit familiar with the condition. My understanding is that it's not so much overproduction as much as it's the mast cells being super sensitive to everything. Are there certain foods you're able to tolerate or do you have to survive on specific nutrition supplements?

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TheXtraReal t1_ivtrlwg wrote

I am reactive to food. I'm still on my journey to learn and document but that's an exhausting task.

I also react to smells, like smoke and various other environmental aspects.

I don't eat much, say in an episode state. I've dropped 30lbs since March '22.

Another fun bit is it was confirmed I also had a rare water allergy. I found a high pH water I can consume but is hard to stay hydrated.

I don't react to orange juice, soooo yummy!

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EriAnnB t1_ivspypv wrote

Jeeezus, that sounds like a tough way to live.

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madcaplarks t1_ivsqekc wrote

Well this is reddits chance to turn this person's problems into the start of an elaborate Four Yorkshireman sketch!

Oooh luxury, when I eat, my stomach comes completely out of my backside and I have to use sharp implements to jab it back in again.

Sharp implements?! Oooh that'd be lovely, I have to have Charles Dance step on my fingers using boots covered in dog poo, then use my crippled pooey splintered fingers to rub gravel out of my eye balls.

Eye balls?! We DREAMED of having eye balls

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Majin_Bae t1_ivs9cif wrote

No one’s answered your question and I have a biology degree and work for DoorDash so I can explain. Basically enzymes and what they bind to (substrate) can be summed up with the lock and key model. Depending on what the enzyme catalyzes, enough substrate that correctly binds to the enzyme will basically take up all the locks so the left over faulty keys won’t enter. although everything should be taken case by case, we know that enzymes have a high affinity for substrates that they’re after. So if there are enough correct enzymes available, they will bind to the substrates more readily out competing the mutated enzymes, like a key that goes into a lock smoother.

In the case these mutated enzymes out compete the normal ones, then youd be right about worrying about what to do with the bad eggs.

Hope this helps.

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Killer7481 t1_ivsg30o wrote

> No one’s answered your question and I have a biology degree and work for DoorDash so I can explain.

real sadboi hours

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[deleted] t1_ivsmjpz wrote

I know a particle physicist that works in a supermarket. Specialise too much, and there's no jobs if you aren't top of your field.

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DootDootWootWoot t1_ivt2l1j wrote

Maybe he just prefers that life? ¯_(ツ)_/¯

I've found many specialists can often generalize if their livelihood depended on it.

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FedXFtw t1_ivs9vct wrote

Are there any real world cases, be it disorders or syndromes, or just a disease or illness, which cause faulty enzymes which are similar enough, or reactive enough, where their mere existence is harmful to your health? In which case you'd need to both block the production of these AND provide the body with the proper ones

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[deleted] t1_ivsbvbe wrote

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Zouden t1_ivu5mjs wrote

But that's a recessive disorder, meaning the presence of some mutated protein isn't sufficient to cause disease. I believe /u/FedXFtw is asking about diseases where even some faulty protein is sufficient to cause disease even if healthy proteins are present.

For that I would look at dominant disorders, like those involving structural proteins such as collagen. In Ehlers-Danlos syndrome, a mutation in one copy of a collagen gene is sufficient to weaken the collagen structures.

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[deleted] t1_iwb7df8 wrote

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Zouden t1_iwb8s6j wrote

All genes are inherited the same way.

The difference between a recessive or dominant disorder is down to the actual function of the protein encoded by the gene in question; this in turn determines whether a loss of one copy of a gene (remember we have two of each) is sufficient to cause a problem. In many cases, losing function of one gene isn't a big deal because we have the other as a backup. Only when you lose two does disease occur. We call that recessive.

With dominant mutations, losing one is enough to be problematic. This is common in genes that encode for structural proteins, where you need every bit to work correctly.

An interesting case is the sickle-cell mutation of the hemoglobin gene. One copy of the mutation confers resistance to malaria, but two copies causes sickle-cell anaemia. The malaria resistance is a dominant trait, while sickle-cell anaemia is recessive.

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[deleted] t1_iwcnjys wrote

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Zouden t1_iwcp13v wrote

Yes, being dominant or recessive doesn't always correlate with how deleterious the mutation is. I'm not sure what your question is exactly?

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hypergol t1_ivsegyu wrote

sure, there are plenty of diseases caused by gain of function (rather than loss of function) mutations. Parkinson’s disease is one: loss of the ASYN gene is pretty much fine, but mutations in the gene cause familial (early onset) Parkinson’s.

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DJ_Velveteen t1_ivspoqr wrote

Huntington's, I reckon. Although iirc Huntingtin (the defective protein that kills you) may not be an enzyme and I'm on a phone so it's not easy to check offhand

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SerialStateLineXer t1_ivsivf0 wrote

Diseases caused by mutations resulting in toxic gain of function exist. Huntington's disease and some forms of ALS, for example. Generally these are inherited in a dominant fashion, since you only need one copy producing toxic proteins to mess things up.

For toxic gain of function mutations, there are various technologies for silencing the expression of toxic genes currently in clinical trials. Most of them use complementary RNA strands that bind to mRNA, preventing it from being used to synthesize proteins. I don't think any of these are currently FDA approved, but there should be some within a few years.

(Edit: According to Wikipedia, there are actually four RNAi (RNA interference) drugs on the market already).

Conversely, loss-of-function mutations are generally inherited in a recessive fashion, since one copy of a gene will usually produce enough of a protein. I believe that there are a handful of loss-of-function diseases inherited in dominant fashion due to haploinsufficiency (where one good copy cannot produce sufficient quantities of a needed protein).

There's some evidence that c9orf72 hexanucleotide repeat expansions, the most common genetic cause of ALS and FTD, involves both haploinsufficiency and toxic gain of function. Basically, the mutant c9orf72 protein doesn't fold correctly, producing toxic aggregations, and then there isn't enough good c9orf72 protein to clean up the mess. It's inherited in dominant fashion.

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OliQc007 t1_ivu8i53 wrote

How do the enzymes penetrate the cell ? Aren't they too big to ever get in, even through transporters ?

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bigglyboblee t1_ivv3wre wrote

You are right that a limit of ERT is it’s penetration to particular tissues/cells.

However, transporters are not the only mechanism for cellular entry. Have you heard of receptor-mediated endocytosis?

You can check out this paper if you want to see the mechanism in more detail

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[deleted] t1_ivubudo wrote

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bigglyboblee t1_ivv2xio wrote

You can read the paper if you’re interested, from my skim she has to receive injections every couple weeks for the rest of her life.

I don’t see how a single dose would work for enzyme replacement therapy, but I am not an expert in this topic.

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cowlinator t1_ivs0d0t wrote

The body uses DNA/RNA as a blueprint to make enzymes. If you have a genetic mutation, your body cant make the enzyme needed to live. So they put the enzyme in a pill needle and put it in your blood. Now your body has the enzyme

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frostymoose t1_ivs5f3l wrote

Enzymes are generally too large to be absorbed orally and would likely be degraded before absorption if it were possible. For some conditions, like cystic fibrosis, enzymes are supplemented orally because they are for digestion and do not need to leave the GI tract.

In this case, the drug is administered intravenously, but some large molecules can also be given intramuscularly or subcutaneously.

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personAAA t1_ivspi8g wrote

DNA is the blueprint. mRNA is the working transcript.

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YouAreGenuinelyDumb t1_ivs47r6 wrote

DNA encodes proteins. Enzymes are a type of protein that act as catalysts in your bodies metabolism. If you have a mutation that causes an enzyme to either not work or exist, you may need to replace it in order to properly digest food, eliminate toxins, or carry out basic metabolic activity.

A very common example is Lactaid. If you are lactose intolerant, you can take a pill containing lactase, the enzyme that digests lactose, so that you eat lactose containing foods without issue.

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QVCatullus t1_ivttu6m wrote

It's worth pointing out that in this case, enzyme replacement therapy was used in utero to treat the disease, not cure it. The therapy hasn't changed that the patient still isn't able to manufacture the needed enzyme, and barring new developments will need to continue the infusions for life. What's important is that usually the therapy is not begun before the child is born, but that means that glycogen buildup has already had a chance to affect fetal development; in this case (some of) that damage was hopefully forestalled by beginning treatment before birth. The article also mentions that the hope is that the body's allergic reaction to the enzyme infusion will be ammeliorated by beginning the treatment early, which strikes me as reasonable enough but it looks like they'd like to start collecting data on that to see if it's a justified benefit.

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29PiecesOfSilver OP t1_ivqsnw5 wrote

What a beautiful story. I wish Ayla continued good health. This medical breakthrough is an absolute first and I hope these doctors go on to save countless more lives.

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Zouden t1_ivswekq wrote

The sad part of the story is the girl has to continue having the enzyme infusions for the rest of her life.

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kalesaji t1_ivsvz0u wrote

Will this mutation reappear in her offspring later down the line? Genetic diseases have the nasty habit of being passed down. Will this treatment be necessary for her children as well?

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personAAA t1_ivsxu0o wrote

The child has two broken copies.

If she has kids, it depends on husband's DNA. If he has two normal copies, all her children are carriers. If husband has it, all kids get it. If husband a carrier, 50% odds kids get it.

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Ggfd8675 t1_ivvh5to wrote

She still has the mutation. They didn’t do anything to alter her genes. The breakthrough here was being able to administer the missing enzyme to her in utero. Previously, they’ve given this enzyme treatment soon after birth, when much damage was already done during fetal development. She will receive the treatment for the rest of her life, unless they invent a new therapy.

The actual paper is paywalled, so I’m going off of the linked reporting.

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megamogul t1_ivvk50y wrote

It sounds like this mutation might be dominant, meaning she will pass down one copy of her mutant genes (the one that causes the disease) and her children will need the same ETF treatment.

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Techinstuff t1_ivscmss wrote

Great great news, are there similar diseases this approach could be applied to?

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personAAA t1_ivsq1f8 wrote

For diseases with enzyme replacement therapy already, possible to give treatment even earlier. In Utero can be done.

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Juniper_Moonbeam t1_ivth84y wrote

This is excellent news. Our state (VA) does a newborn screen and Pompe is one of the diseases screened for. We got a false positive on the state screen for Pompe, and we spent a full month absolutely convinced our newborn was going to die. Luckily, as with most of the positives states get for this disease on the screen, we had a false positive and our baby is thriving. This was not a disease I needed to binge read about in the thick of newborn sleep-deprived stupor.

I’m so happy for this family. I know that there has been a lot of work done on this therapy, and a lot of it was pioneered by a guy who had two daughters with the disease. They actually made a movie about him starring Brendan Fraser and Harrison Ford called Extraordinary Measures. Maybe some day I’ll get up the courage to watch it.

I am curious—is this therapy going to be more widely applicable to other diseases? I also wonder if this could help kids who test positive on a newborn screen, rather than in utero.

Edit to add: my husband and I are actually participating in a study right now about how parents who experienced false positives perceive their baby and parenthood. This has a big impact on people, apparently.

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Ggfd8675 t1_ivvjmim wrote

NYT has being doing amazing investigative reporting on a similar issue with prenatal screens: https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html

FDA issued a warning to parents: https://www.fda.gov/medical-devices/safety-communications/genetic-non-invasive-prenatal-screening-tests-may-have-false-results-fda-safety-communication

This is a different type of testing than the newborn screen (blood spot cards) you are talking about. It’s screening fetal genetic material in maternal circulation during pregnancy. But this also has the problems of false positives and failure to properly counsel parents about the result.

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Juniper_Moonbeam t1_ivvlrpl wrote

We got the NIPTS testing you’re referring to in the NYT study and that the FDA is talking about. Before we got it, I read a lot about it and had a long conversation with my doctor. I knew the risks going into it, and understood exactly what it was (a screening tool to assess risk) and what it was not (a diagnostic test). I had a great experience with the NIPTS and would do that again.

For the state blood spot screen, barely any information was given to me, and it was presented as mandatory. I did not understand it well, and didn’t have a conversation with a healthcare provider about it before it happened. So when we got our false positive I freaked the f out. Would not recommend. Sometimes I think this is what the FDA should be warning people about. But I understand the importance of it.

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bassisafish t1_ivvmspw wrote

I’m sorry to hear about your experience with being hit with a false positive. One of the biggest obstacles in Pompe screening is the presence of pseudodeficiency alleles, where there is a deficiency in the GAA enzyme but not deficient enough to cause the Pompe disease. In my screening program almost 50% of all positives end up becoming false positives because of this, I wonder if you know if this was true in your case?

To answer your question, the treatment used in utero is actually the same treatment that has been always used for newborns with Pompe and other genetic diseases (enzyme replacement therapy). The reason why this treatment is big news is that this is the first time it’s been done in utero, which is a big deal specifically because infantile onset Pompe can be irreversibly fatal within a couple months of birth, so even with screening sometimes it can be too late to begin treatment.

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Juniper_Moonbeam t1_ivvs072 wrote

I have no idea what caused our false positive. Form what we read just about anything from not letting the blood spot dry long enough to letting it be too exposed to light could cause the positive. On retest the baby had normal values.

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Deo-125 t1_ivt3y20 wrote

I love that smile with the kid

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Psychological_Bar870 t1_ivsra3a wrote

I think the enzyme is acid alpha glucosidase. This is an amazing breakthrough.

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Abdoolz t1_ivsyc0u wrote

Anyone got a link to the original article ? Its behind a pay wall sadly.

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AssEating420 t1_ivturm1 wrote

Needed a little good news today :)

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Consistent-Lie7830 t1_ivt4kx3 wrote

What medical research university/company/think tank is perfecting this procedure which seems to have completely changed the course of the little girl existence?

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Consistent-Lie7830 t1_ivw55q5 wrote

I did but I don't recall seeing a specific name. I'm not trying to be lazy or difficult, but I will go back and reread it.

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cgfoss t1_ivth0li wrote

If it's genetic, does that mean she will pass the condition to her offspring?

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rickie-ramjet t1_ivuc840 wrote

On an unviable tissue mass to boot!

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Techygal9 t1_ivuln7l wrote

Is this one of the genetic disorders common due to inbreeding? I would still say removal of this gene via pre marital genetic counseling or ivf/crispr would be better than passing this down again.

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Consistent-Lie7830 t1_ivw5igv wrote

It says "an international collaboration ", but no specific name. I'm interested in following the pioneers and maybe, one day hopefully, investing in such a company.

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ribnag t1_ivsem0d wrote

Is this autosomally heritable, or merely breeding a generation of very literal dead ends?

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personAAA t1_ivsgzjb wrote

Read the article. Autosomal recessive.

Each parent has a mutated copy on non-sex chromosome and it takes two copies to have disease.

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erkobega t1_ivss1ly wrote

I.e, dont marry your cousin.

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wontonstew t1_ivsv27k wrote

Not necessarily, some populations from particular regions or ethnicities can carry it without it being expressed ever before.

I got my genetic testing done, and I'm an autosomal recessive carrier for "Sandhoff disease". It's rare, and nobody in my family has ever had it going back generations, 1 in 500,000 chance of my kid having it. But what's super interesting to me is this.

It's only found in Canadian midwest native Americans, the creole people of Argentina, and Lebanon. Kind of crazy, right?

Now, if I lost the genetic date pool lottery, and happened to fall in love with someone else that also was a carrier? 50% chance my kid would actually have the disease.

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personAAA t1_ivssc4q wrote

Not necessarily that this caused by close family marriage. The exact mutations on the base pair level could be different between the parents. Both mutations create non or low functioning proteins.

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[deleted] t1_ivsie8u wrote

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[deleted] t1_ivra79n wrote

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