Down Syndrone Reversed in Mice

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http://mobile.abc.net.au/news/2013-09-0 ... ce/4936412

[aileron]

Very interesting article.  Thanks for the link.

[Colanth]

So they created a mouse that didn't actually have trisomy 21, treated one of the induced symptoms, and a "science" reporter reported that science has reversed "Down Syndrome" in mice.  The mice didn't have it, the "cure" didn't cure it, and it has absolutely no application to the cure of human trisomy 21.

But even it it WERE a cure, watch theists claim that it can't be used because of <insert some theistic crap here>.

[Solitary]

I thought down syndrome could be prevented before birth with a simple blood test to detect it and prevented with treatment. :-s  Solitary

[Mermaid]

I thought down syndrome could be prevented before birth with a simple blood test to detect it and prevented with treatment. :-s  Solitary

You can prevent it with a blood test and, if positive, an abortion. Other than that, there is no cure or prevention for Down's as of today. It is characterized by the presence of an extra chromosome, not something you can medicate away.

[Mermaid]

So they created a mouse that didn't actually have trisomy 21, treated one of the induced symptoms, and a "science" reporter reported that science has reversed "Down Syndrome" in mice.  The mice didn't have it, the "cure" didn't cure it, and it has absolutely no application to the cure of human trisomy 21.

But even it it WERE a cure, watch theists claim that it can't be used because of <insert some theistic crap here>.

Well, they did induce this condition by adding genes to the relevant chromosome 21 that were able to induce some of the development issues that Down's babies have in these mice. While I agree that this is not a "reversal of Down's Syndrome" (that is a rather irresponsible assertion), it's a therapy that is interesting.

I also love the name "Sonic hedgehog pathway agonist". I have to wonder what the sonic hedgehog pathway is.

[Solitary]

I thought down syndrome could be prevented before birth with a simple blood test to detect it and prevented with treatment. :-s  Solitary

You can prevent it with a blood test and, if positive, an abortion. Other than that, there is no cure or prevention for Down's as of today. It is characterized by the presence of an extra chromosome, not something you can medicate away.

Thanks! I was thinking of Phenylketonuria (fen-ul-ke-toe-NU-re-uh) is a birth defect that causes an amino acid called phenylalanine to build up in your body. Phenylketonuria is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine.

Amino acids are the building blocks for protein, but too much phenylalanine can cause a variety of health problems. People with phenylketonuria (PKU) — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein.

Babies in the United States and many other countries are screened for phenylketonuria soon after birth. Although phenylketonuria is rare, recognizing phenylketonuria right away can help prevent serious health problems.
 Solitary

[NeoLogic26]

I wonder if this is one of those situations where if a cure for Downs Syndrome actually was developed, there would be people who would be proud to have a DS baby and refuse the treatment. Sort of like how some deaf parents won't get surgery or don't approve of methods which would allow their deaf children to hear.

[Colanth]

I also love the name "Sonic hedgehog pathway agonist". I have to wonder what the sonic hedgehog pathway is.

You'd probably have no problem understanding //http://en.wikipedia.org/wiki/Sonic_hedgehog

[Colanth]

I wonder if this is one of those situations where if a cure for Downs Syndrome actually was developed, there would be people who would be proud to have a DS baby and refuse the treatment.

I really hope that it's not possible for people that stupid to reproduce.  I know it's a forlorn hope, but ...

[Agramon]

So they created a mouse that didn't actually have trisomy 21, treated one of the induced symptoms, and a "science" reporter reported that science has reversed "Down Syndrome" in mice.  The mice didn't have it, the "cure" didn't cure it, and it has absolutely no application to the cure of human trisomy 21.

But even it it WERE a cure, watch theists claim that it can't be used because of <insert some theistic crap here>.

Well, they did induce this condition by adding genes to the relevant chromosome 21 that were able to induce some of the development issues that Down's babies have in these mice. While I agree that this is not a "reversal of Down's Syndrome" (that is a rather irresponsible assertion), it's a therapy that is interesting.

I also love the name "Sonic hedgehog pathway agonist". I have to wonder what the sonic hedgehog pathway is.

I'm guessing it's the embryonic development induced by the sonic hedgehog gene (I loved hearing that name in Eco-Evo btw :))?

[surly74]

I wonder if this is one of those situations where if a cure for Downs Syndrome actually was developed, there would be people who would be proud to have a DS baby and refuse the treatment. Sort of like how some deaf parents won't get surgery or don't approve of methods which would allow their deaf children to hear.

I'll try to find it but there were comments on an article similar to this where Christians were against a cure for Downs saying god made the child that way.

[Mermaid]

I also love the name "Sonic hedgehog pathway agonist". I have to wonder what the sonic hedgehog pathway is.

You'd probably have no problem understanding //http://en.wikipedia.org/wiki/Sonic_hedgehog

Thank you for being smart enough to Google that for me. For some reason, it didn't occur to me. Still sure I'll understand it?  :rollin:

It is what I suspected, a group of proteins named because when folded in their regular configuration, they look like Sonic the Hedgehog. This is the kind of thing that makes me love basic science. Scientists can be such geniuses, but underneath it all, after all that digging and late nights passing cells and reading monstrous spreadsheets, they can step back and look at an image and think "that protein looks like Batman! I'm gonna name it that!". Earlier in my career, we discovered a molecule that we called "Barney" because it was that color. The whole project was called that, and it always made me laugh a little sitting in stuffy corporate meetings, hearing people with suits and ties presenting pie charts and shit, referring to it as "Barney". The Barney "I love you, you love me, we're a happy family" song ran though my head.

The Sonic Hedgehog Pathway is one of a billion examples why I think research is the coolest thing ever. Someone actually discovered that this signaling pathway regulates the growth of organs in embryonic mammals. And that artificially turning this pathway on or potentiating it in the case of trisomy 21, you can stop some of the developmental abnormalities from occurring. I mean. Seriously. WHO DOES THAT KIND OF STUFF!? REALLY smart people, that's who.

[Colanth]

The Sonic Hedgehog Pathway is one of a billion examples why I think research is the coolest thing ever. Someone actually discovered that this signaling pathway regulates the growth of organs in embryonic mammals. And that artificially turning this pathway on or potentiating it in the case of trisomy 21, you can stop some of the developmental abnormalities from occurring. I mean. Seriously. WHO DOES THAT KIND OF STUFF!? REALLY smart people, that's who.

That's why I figured you'd understand the information at the link - you're one of them.

BTW, if you haven't read it already, you should read Dawkins' The Greatest Show on Earth.  He goes into how much evolution is driven by embryonic development.  (I know I'm wording that very badly.)

[billhilly]

So they created a mouse that didn't actually have trisomy 21, treated one of the induced symptoms, and a "science" reporter reported that science has reversed "Down Syndrome" in mice.  The mice didn't have it, the "cure" didn't cure it, and it has absolutely no application to the cure of human trisomy 21.

But even it it WERE a cure, watch theists claim that it can't be used because of <insert some theistic crap here>.

Done and done.  Not even sure it's a theist but it might as well be.

Here's the thing -- I'm an "everything happens for a reason and things are meant to be" type of person. And when it comes to babies, I firmly believe that you get the child you are supposed to have -- and you love that baby unconditionally no matter what.

I think that if I were to have a baby born with Down syndrome -- it would feel like I was somehow monkeying with nature by injecting him with something to physically alter who he is simply because he's not "perfect," -- and something about that doesn't seem right.

http://thestir.cafemom.com/baby/160703/ ... n_syndrome