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Mice Cured of Autism
noahisaac writes "My brother just sent me an article he posted for the Rett Syndrome Research Foundation about a cure for Rett Syndrome, a form of autism. According to the article, researchers successfully re-introduced a fully functional version of the MECP2 gene into mice that had been born with damaged MECP2 genes. Contrary to their expectations, the mice improved. In the article's words, 'restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.' The ramifications for people suffering from Rett Syndrome are obvious, but mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders."
The ramifications for people suffering from Rett Syndrome are obvious, but mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders."
So they're saying this will cure people of World of Warcraft?
The theory of relativity doesn't work right in Arkansas.
please if you get a chanse put some flowrs on Algernons grave in the bak yard
If there is a cure for autism - and it's close cousin, aspergers - then most of us on slashdot will get a life.
How much will the treatment cost Rainman?
"About a hundred dollars."
In other news, a nerdy engineer turns into a superb personnel manager after the genes are corrected. The only problem is the manager now has no way of understanding the code and schematics previously thought to be "fully documented".
So they spliced a stop codon into the middle of the relevant gene to disable it, then delivered an enzyme all the way to cell nuclei (!) to delete what they spliced in. The next step then it seems is then to find or engineer a proper enzyme to patch a naturally occurring gene defect -- they've basically proven that runtime patching of the genome works. Nice.
...when you're writing a game...tweak the difficulty of "Easy" to something [your mother] can cope with. -- onion2k
The rats never had autism -- they had Rett syndrome, which was cured. Why does the poster seem to feel that the results here can be generalized to a similar disorder, when it's not even well understood why it even worked for the first?
Men, apparently, need not apply- these specific behaviors are female symptoms mostly. I wonder, though- is this the cause of the difference between heavy metal poisoning causing autism and genetics causing autism?
From TFA: * Rett Syndrome (RTT) is a severe childhood neurological disorder, diagnosed almost exclusively in girls. The most physically disabling of the autism spectrum disorders, RTT strikes at random, affecting an estimated 1 in every 10,000 females.
* First symptoms usually appear between 6 to 18 months of age. Development slows or begins to regress. Children at this stage may exhibit the social withdrawal often seen in autism, or cry inconsolably for months as previously acquired language and motor skills disappear. In classic RTT, this regression is accompanied by the onset of constant, compulsive hand wringing and the loss of all functional hand use. The progression of symptoms varies across the RTT spectrum. Many children become wheelchair bound; those who walk display an abnormal stiff-legged gait.
* As the disease progresses, abnormal voluntary and involuntary movements reflect increasing neurological deficits. The children suffer apraxia, the inability to organize voluntary movement. Parkinson-like tremors are common, as are disordered breathing patterns and problems with chewing and swallowing. Some children require feeding tubes or supplementary oxygen. Abnormal brain wave patterns are present in RTT; a percentage of the children experience seizures.
* The only autism spectrum disorder with a known genetic cause, RTT results from mutations in the gene MECP2. This gene was first discovered by Adrian Bird, Ph.D in 1990. MECP2 regulates the expression of other genes by turning them off at the appropriate time.
* Mutations in MECP2 were identified as the cause of RTT in 1999 in the lab of Huda Zoghbi, M.D. MECP2 mutations are now being seen in some cases of childhood schizophrenia, classic autism and learning disabilities.
SJW: a person who perceives an injustice, and while correcting it, commits a greater injustice.
MECP2 as "the cause" of autism is overblown-- scientists have isolated several genetic areas that are somewhat probable contributors toward developing autism, but
1. Autism is definitely caused by the contributions of many genes;
2. There are various ways autism presents itself- presumably due to varying genetic contributions. Rett Syndrome is (in my understanding) an atypically (genetically) simple form of autism.
Self-diagnosed Aspergers sufferers will suddenly find themselves without any excuse for their behavior.
Obligatory Douglas Adams:
And far away in some distant dimension, some pan-dimensional hyperintelligent beings have suddenly become extremely anti-social, developed a limp, and are currently wondering if this search for the ultimate question is worth all the bother...
Seven puppies were harmed during the making of this post.
From: http://www.autistics.org/library/dontmourn.html
Autism isn't something a person has, or a "shell" that a person is trapped inside. There's no normal child hidden behind the autism. Autism is a way of being. It is pervasive; it colors every experience, every sensation, perception, thought, emotion, and encounter, every aspect of existence. It is not possible to separate the autism from the person--and if it were possible, the person you'd have left would not be the same person you started with.
This is important, so take a moment to consider it: Autism is a way of being. It is not possible to separate the person from the autism.
Therefore, when parents say,
"I wish my child did not have autism,"
what they're really saying is,
"I wish the autistic child I have did not exist, and I had a different (non-autistic) child instead."
Read that again. This is what we hear when you mourn over our existence. This is what we hear when you pray for a cure. This is what we know, when you tell us of your fondest hopes and dreams for us: that your greatest wish is that one day we will cease to be, and strangers you can love will move in behind our faces.
Here is the source of this info.
They keep curing the mice!!! what about us humans? ... :-) [yes this is a joke].
Someday, I'll have a real sig.
Actually, a cure for WOW is in development. You can check it out how the cure is coming along here
They've reversed (something like) Rett Syndrome in mice, showing that the nerve malfunctioning is reversable. In humans, however, missing vital developmental milestones is not reversable. E.g. normally we acquire grammar by age three, but if for some reason we don't acquire it before the age of about 10, we never will (or only very poorly.) So even if this treatment transfers to humans, it is unlikely to be a complete miracle cure for adult Rett Syndrome (or autistic) people.
Here's another article about it.
Quattuor res in hoc mundo sanctae sunt: libri, liberi, libertas et liberalitas.
Okay, hypothetically, you cure someone from a form of autism. What then? There's still a social aspect to behavior, one that having whatever syndrome on the autistic spectrum is sure to leave a hole in. Who knows, on human patients who have grown up with, say, Asperger's, does anyone really know if their life will improve? They may already be beyond the socialization phase. There could be some kind of 'social shock' following this supposed cure. Nonetheless, we're probably a long ways of from seeing anything even close to this being done on humans.
>mutations of the MECP2 gene are also believed to be the cause of 'classic' autism, and a number of other neurological disorders.
Classic autism aside, I think a lot of people are suffering from a sociological autism that will *not* be improved by gene therapy. What is autism exactly, is there a definition? I can imagine one, but I'm not sure everyone is on the same page with this relatively new disease.
In other words, I don't think gene therapy will get my dad to shop at designer clothing stores, get his car tuned, or hire contractors to improve his house.
Hell, you could make that argument for ANYTHING.
Therefore, when parents say,
"I wish my child did not have the flu,"
what they're really saying is,
"I wish the sneezing, sniffling child I have did not exist, and I had a different (non-flu-having) child instead."
Duh.
Wake me up when they've cured altruism.
Oh wait...
https://www.eff.org/https-everywhere
...If I had the mod points I would do it myself.
I have been officially diagnosed with Aspergers and I can attest to much of what the parent has stated.
If I had been born with a typical neural system I would not be the person that I am today. True, I spent time (and still do) obsessively pursuing new interests while other people were busy making friends, but those things that I learn are all useful and many of them allow me to earn a decent income. In fact, I suspect having Aspergers allows me to become proficient at new things more quickly than most people because once I get interested in something I work at it every chance I get.
In a way, having Aspergers is an asset despite the price that I pay for it (the price can be rather steep in the areas of personal relationships and physical aptitude since I also have Dyspraxia) -- most people spend their lives becoming specialized on only a few things; due to the fact that I remember everything about my past interests I am constantly becoming more versatile and I have an ever-increasing skill set.
"It is a denial of justice not to stretch out a helping hand to the fallen; that is the common right of humanity."
tasks(723) drafts(105) languages(484) examples(29106)
I'm pretty sure the rise in diagnosis of autism correlates with a decline in the number of women smoking while pregnant and a rise in women having children later in life, so we should stop getting immunized AND start smoking more AND have more premarital sex.
You had me at "have more premarital sex."
Remember, it's for the children!!
___
It's the end of my comment as I know it and I feel fine.
Genetic studies are showing fairly clearly now that there is no single gene implicated in autism. When different people are tested, it shows involvement in multiple chromosomes, and in multiple different sites on the same chromosome in different people. There is considerably variability from one person to another. As others have mentioned above, Rett's is different in presentation and likely etiology than other forms of autism. This study likely has limited relevance to treatment of any form of autism other than Rett's.
The issue is that there has developed the attitude among (some) deaf people that being deaf and speaking sign have created a deaf community and culture separate (or at least equally valid) as that of the 'hearing community.' More to the point, they view medical treatment for deafness as an imposition and threat to their culture. From Deaf Community at Wikipedia: "A belief commonly shared by Deaf people from around the world is that deafness should not be regarded as an impairment or disability."
An analogy I've come to appreciate is that of deaf culture to the gay community: One could argue that being gay is a genetic flaw, as it gets in the way of the most efficient possible reproduction rates. However, most gay people (and an ever-growing number of straight people) would say that being gay does not mean they are "flawed." In the movie 'The Family Stones' there is a scene where one character asks a gay man whether he would want the child he is attempting to adopt to be gay, because it must have been incredibly difficult growing up gay in this society. The gay man's mother objects, saying there is something wrong with society, not with her son. (That's from memory, so it may not be exactly right, but it's the basic idea of the scene.) There are people in the deaf community who would argue the same thing, that being deaf is not a disability or disadvantage, and it is only because society makes it difficult to be deaf that there are problems. (I think the scene is also interesting because the man is also deaf, but that's not really important for the analogy...)
That said, I disagree with the concept of deaf culture and would tend to agree that deafness is a disability. However, I also feel very strongly that being gay is not a disability and that it is society's 'fault' that gay people have problems existing in the world. I've thought a lot about it (the comparison of gay-ness and deaf-ness as genetic 'problems') and have come up with primarily emotional reasons for feeling the way I do, rather than logical ones...
I'm only aware of the idea of deaf culture because my mom works extensively with the deaf students and is fluent in sign language. Although neither she nor I are deaf (or even have any particular hearing problems) we've talked a lot about this and I feel qualified to comment on it. I must add that this is all my understanding of things and someone who is deaf would probably know better than I.
If you're still interested in the idea of deaf culture, the movie Sound and Fury might be interesting, as it's a documentary about a deaf culture (in part) and much of the movie focuses on a family of two (genetically) deaf parents with children who also have genetic hearing problems. A question throughout the movie is whether or not to 'fix' the children with cochlear implants (which can provide partial hearing, depending on the cause of deafness). The documentary ends with the decision to not get the implants in most of the children, but there was recently a followup documentary in which almost all of the children (and some of the adults) have now gotten cochlear implants and are enjoying having partial hearing. The wikipedia article on Sound and Fury has some more info.
Phew! That was more than I thought I was going to type. Hope it's helpful to someone...
-Trillian
...to play the mouse in the film version.
I have read a fascinating book called "Speed of Dark by Elizabeth Moon that deals with this subject matter.
Amazon clip:
Corporate life in early 21st-century America is even more ruthless than it was at the turn of the millennium. Lou Arrendale, well compensated for his remarkable pattern-recognition skills, enjoys his job and expects never to lose it. But he has a new boss, a man who thinks Lou and the others in his building are a liability. Lou and his coworkers are autistic. And the new boss is going to fire Lou and all his coworkers--unless they agree to undergo an experimental new procedure to "cure" them.
The short version: Autistics all have gifts that we just don't recognize, what if they don't want to be 'cured'
"The price good men pay for indifference to public affairs is to be ruled by evil men." ~Plato (427-347 BC)
While Rett's syndrome falls into the rubric of pervasive developmental disorders, it is not technically considered a form of autism, but in fact often mistaken for autism at time of diagnosis. This is because the victims develop normally for the first 12-24 months of life then have rapid loss of social and cognitive skills. Another point is that the overwhelming majority of the patients are female because it is felt the genetic defect is lethal in utero in males and those males that are born generally die in the first year of life. Additionally, unlike autism and Aspergers, Rett's has a definitive genetic link (note they say the the genetic defect _MAY_ be linked to classic autism). Therefore, it is not surprising that someone eventually found a treatment. The etiology of autism is less clear, more likely due to a combinatorial effect of genetics and environment, and is much less likely to be "cured." People in this forum need to get the facts straight before talking about WoW players, /.ers, etc because Rett's is a serious disease.
I'm one of presumably the minority of people with autism (I was diagnosed at 16 with NLD after the usual traumatic experience with the neurotypical education system) who'd love to be cured myself, if such a thing became available. Autism is a genetic aberration and a curse, for the most part, and needs to be seen as such. Being autistic is neither glamorous or enjoyable, and the only people who try and see it as a blessing are those who wish to gain some extra privelege over and above the normal population, as members of yet another minority. The neurotypical population sees us as the proverbial sewer-dwelling mutants for a reason; it's because we genuinely are.
I've also written numerous times that I believe that the overwhelming predominance of autism in the Linux community is the single main thing holding Linux as an operating system back. Autistics who use Linux (Stallman being primary among them) believe that their philosophical view is morally superior, when I feel that in reality it (particularly the degree of repetitive consistency of the message over time) is simply a result of their neurological disability.
The "five freedoms" aren't things Linux users care about so strongly because they're people with an inherently more developed moral sense than most people, or because of the inherent moral value of the ideas; they're things that Linux users care about to that degree because autism causes rote, uncontrollable fixations with certain concepts or areas of interest, sometimes on a long term basis. In some kids with Asperger's it's trains or a collection of toilet brushes. In the case of Stallman and the Debian developers, it's a perverted definition of software freedom. The fixation is with an abstract concept rather than physical objects, but that's about the only difference.