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Choose Your Genes Well
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Fascinating story about genetic detective work;

"About 15 years ago, an Amish family in the eastern US was hit by an unexplainable tragedy -- one of their children died suddenly while playing and running around. Just a few months later, the same fate befell another one of their children. Six years later, they lost another child. Two years after that, another one.

The team suspected that a gene called RYR2 could be the culprit -- mutations of the gene can cause a cardiac arrhythmic disorder that can lead to exercise-fainting spells, seizures or even sudden cardiac death. But when they analyzed the gene to check for mutations, nothing turned up.

Turns out, it was RYR2 -- the gene the researchers had suspected all along. But there wasn't just one mistake in the gene. More than 300,000 base pairs in the gene had been duplicated.

"We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose," Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.

To develop the duplication that causes sudden death, a child has to inherit a mutated gene from each parent -- the chances of which are 25 percent. That four children in one family inherited the mutation and died sudden deaths is incredibly unfortunate, Ackerman said. "

https://www.cnn.com/...tery-trnd/index.html

"The great pleasure in life is doing what people say you cannot do."
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Re: Choose Your Genes Well [jkca1] [ In reply to ]
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When your family tree* resembles a bamboo....




*yes nerds, I know bamboo is a grass. I don't care. stop being pedantic.

"Wise men talk because they have something to say; fools, because they have to say something." - Plato
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Re: Choose Your Genes Well [jkca1] [ In reply to ]
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I was standing at a soccer practice years ago watching a bunch of average looking kids run around.

you look to the sidelines and their parents were average folks in every area possible, height, weight, size, athleticism. I turned to the dad next to me and he said, "man I should have married a 6 foot 2 track athlete instead of the little 5'2 girl I did"

I once asked a pro soccer scout what was the first thing he looked at in evaluating a kid. His answer "their parents"


I told me kids to pick their wives wisely if they want their kids to excel at sports.

to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.
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Re: Choose Your Genes Well [ACE] [ In reply to ]
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ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.
It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish
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Re: Choose Your Genes Well [spudone] [ In reply to ]
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spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish

"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.



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Re: Choose Your Genes Well [ACE] [ In reply to ]
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ACE wrote:
spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish


"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.

Yeah it's unfortunate and sad because with testing and choosing compatible marriages, they could - slowly - resolve this.
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Re: Choose Your Genes Well [jkca1] [ In reply to ]
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This is certainly a case were diversity is a good thing. Autosomal recessive diseases or conditions. Usually seen at very high rates given there overall prevalence in the general population in cloistered communities like the Amish and Hasidic Jews because of their isolation and generations of procreation from a limited gene pool.
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Re: Choose Your Genes Well [jkca1] [ In reply to ]
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With CRISPR and IVF pre-screening we could see a virtual end to autosomal recessive diseases this decade at least in developed countries.
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Re: Choose Your Genes Well [spudone] [ In reply to ]
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spudone wrote:
ACE wrote:
spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish


"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.

Yeah it's unfortunate and sad because with testing and choosing compatible marriages, they could - slowly - resolve this.

Nah, it's just God's plan, right?

Proud citizen of Long Chile.
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Re: Choose Your Genes Well [Hispid] [ In reply to ]
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Gene editing of human embryos is illegal.
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Re: Choose Your Genes Well [slink] [ In reply to ]
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But pre-implantation screening for IVF isn't and neither is targeted gene editing via a virus or doing things like culturing edited bone marrow cells and doing a transplant. You don't have to edit embryos
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Re: Choose Your Genes Well [ACE] [ In reply to ]
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ACE wrote:
I was standing at a soccer practice years ago watching a bunch of average looking kids run around.

you look to the sidelines and their parents were average folks in every area possible, height, weight, size, athleticism. I turned to the dad next to me and he said, "man I should have married a 6 foot 2 track athlete instead of the little 5'2 girl I did"

I once asked a pro soccer scout what was the first thing he looked at in evaluating a kid. His answer "their parents"


I told me kids to pick their wives wisely if they want their kids to excel at sports.

to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

Having kids on swim team is like the biggest large-scale longitudinal experiment I can think of without actually doing a massive study... You have years (seriously, decades when you add up all the overlapping generations) of watching kids grow and develop, often including multiple sets of siblings (and in swimsuits, so all their morphological advantages/disadvantages are plainly obvious), and the parents are usually involved enough you get to see most of them in action as well. I will tell anyone till I'm blue in the face on the main board that training is vastly overrated; being born w/ talent is easily worth more than years & years of training. It's just so damn obvious when you see repeated examples of kids who join late, strokes look like shit, but they're suddenly super fast in hardly any time ~ and then come to find out both their parents were D-1 scholarship athletes in college or something similar. Same coaches, pools, equipment, workouts, etc as the kids right next to them who've been on the team for years already but still max out much slower cuz they picked obviously unathletic parents.

My favorite examples are the girls who are super fast at 12-13-14-15, and then by the time they graduate HS they've suddenly and dramatically regressed cuz they're already starting to pack around the same huge backside that their mom's been cursed with. It's pretty much the same movie, over and over and over again. My favorite analogy is that training is simply like a can opener (and maybe cookware if you wanna get fancy) when it comes to making a meal, but you're already born/stuck w/ whatever is inside the can to begin with.
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Re: Choose Your Genes Well [Hispid] [ In reply to ]
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Hispid wrote:
But pre-implantation screening for IVF isn't and neither is targeted gene editing via a virus or doing things like culturing edited bone marrow cells and doing a transplant. You don't have to edit embryos

I'm not sure how they are doing it but i know they are to the stage of trials editing genes in adult humans to try to cure sickle cell anemia.
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Re: Choose Your Genes Well [ACE] [ In reply to ]
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ACE wrote:
spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish


"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.

[pink]What problem?[/pink]

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Re: Choose Your Genes Well [ThisIsIt] [ In reply to ]
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ThisIsIt wrote:
Hispid wrote:
But pre-implantation screening for IVF isn't and neither is targeted gene editing via a virus or doing things like culturing edited bone marrow cells and doing a transplant. You don't have to edit embryos


I'm not sure how they are doing it but i know they are to the stage of trials editing genes in adult humans to try to cure sickle cell anemia.

I attended a talk a couple of weeks ago where someone presented this work...it was downright incredible.

https://mbio.asm.org/content/9/5/e01683-18
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Re: Choose Your Genes Well [ACE] [ In reply to ]
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ACE wrote:
spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish


"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.



And no new blood being brought in. They need to recruit some new members from far flung places. Or maybe do like the societies on Star Trek that were cloning and just kidnap a few kids here and there.

We are so fucked.
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Re: Choose Your Genes Well [j p o] [ In reply to ]
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j p o wrote:
ACE wrote:
spudone wrote:
ACE wrote:
to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.

It's something the Amish are more prone to and a few of them do undergo testing - although many refuse to.

https://en.wikipedia.org/...alth_among_the_Amish


"Since almost all Amish descend from about 200 18th-century founders, genetic disorders that come out due to inbreeding"

think I found their problem.




They need to recruit some new members from far flung places. Or maybe do like the societies on Star Trek that were cloning and just kidnap a few kids here and there.

I thought that was on LOST.
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Re: Choose Your Genes Well [OneGoodLeg] [ In reply to ]
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OneGoodLeg wrote:
ACE wrote:
I was standing at a soccer practice years ago watching a bunch of average looking kids run around.

you look to the sidelines and their parents were average folks in every area possible, height, weight, size, athleticism. I turned to the dad next to me and he said, "man I should have married a 6 foot 2 track athlete instead of the little 5'2 girl I did"

I once asked a pro soccer scout what was the first thing he looked at in evaluating a kid. His answer "their parents"


I told me kids to pick their wives wisely if they want their kids to excel at sports.

to your op, not sure how you know if you and your partner will create kids with a debilitating genetic disorder that is unseen to the eye and never tested for.


Having kids on swim team is like the biggest large-scale longitudinal experiment I can think of without actually doing a massive study... You have years (seriously, decades when you add up all the overlapping generations) of watching kids grow and develop, often including multiple sets of siblings (and in swimsuits, so all their morphological advantages/disadvantages are plainly obvious), and the parents are usually involved enough you get to see most of them in action as well. I will tell anyone till I'm blue in the face on the main board that training is vastly overrated; being born w/ talent is easily worth more than years & years of training. It's just so damn obvious when you see repeated examples of kids who join late, strokes look like shit, but they're suddenly super fast in hardly any time ~ and then come to find out both their parents were D-1 scholarship athletes in college or something similar. Same coaches, pools, equipment, workouts, etc as the kids right next to them who've been on the team for years already but still max out much slower cuz they picked obviously unathletic parents.

My favorite examples are the girls who are super fast at 12-13-14-15, and then by the time they graduate HS they've suddenly and dramatically regressed cuz they're already starting to pack around the same huge backside that their mom's been cursed with. It's pretty much the same movie, over and over and over again. My favorite analogy is that training is simply like a can opener (and maybe cookware if you wanna get fancy) when it comes to making a meal, but you're already born/stuck w/ whatever is inside the can to begin with.

Hm well, my parents passed along *good* athletic genes to me. Not-so-humble-brag: my mom still runs a sub-4 marathon at age 70. My problem is I'm just lazy :P

I have also seen several instances where there's a very gifted and hardworking athlete, but for whatever reason, they are just injury-prone. Genetics probably factors into that somewhat, also.
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Re: Choose Your Genes Well [slink] [ In reply to ]
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slink wrote:
Gene editing of human embryos is illegal.

Even the Chinese agree - story

_________________________________________________
"The will to win means nothing without the will to prepare" - Juma Ikangaa

http://www.litespeed.com
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