Paywall so I can’t read the article. Presupposing a problem with neurodivergence is pretty gross. If this treatment eliminates neurodivergence in the child, I completely oppose it. If it only helps prevent lifelong disabilities like nonverbal development, then there could be some benefit.
I mean, like lots of scientific news stories, this is a bit… thin. “We solved it in mice!” is a headline we get for virtually every ailment imaginable and rarely results in a human-ready treatment in the immediate future.
Past that, I don’t think there’s anything you can do to “eliminate neurodivergence” shy of intensive eugenics. There are definitely more sever instances of autistic symptoms and behaviors that undermine quality of life - sever speech impediments, pronounced OCD, epilepsy - that I don’t think you can just condone in the name of diversity. If these symptoms can be treated, you’re in a position to preserve neurodivergence by mitigating their worst manifestations rather than eliminating it.
But gene editing is a dicey business for a whole host of reasons. This has all the hallmarks of a Trolley Problem dilemma, as there’s going to be a real human cost to testing and mainstreaming a treatment that as the potential to make radical changes to the human genome. But it also has the potential to benefit an enormous number of people suffering from a debilitating condition.
So much of the ethics will be bound up in the execution. When and how the treatment is administered, how the various conditions are diagnosed, whether we treat autistic tendency as a real quality-of-life affair or a purely cosmetic condition, whether it is something made generally available or paywalled behind for-profit bureaucracy…
But the idea that we’re just going to eliminate a general form of neurodivergence with a simple jab… That’s more fantasy than reality.
they changed some mice genes, saw that they had ASD like symptoms, and reversed that.
that might not even be all that doable in humans. first of all we have a lot of genes in human associated with autism. then we have the question of whenever gen editing could reverse structural differences in an already developed brain. Then there is the problem of side effects.
and than ethics and the little thing that many ASD people would rather not ‘cure’ autism. Like making some of the negative things go away or reduce would be nice (for example sensitivity to light), but ‘curing’ autism as a whole? nah, thanks i prefer to be me
The mice thing is interesting because they’ve been doing this for a while. There’s an infection they give to pregnant mice that makes the babies display something like ASD. They’ve treated those symptoms before with a probiotic bacteria. The ‘autistic’ mice stopped doing things like persistently burying marbles but they still ignored other mice. Unsure if this latest thing is similar.
and than ethics and the little thing that many ASD people would rather not ‘cure’ autism.
Again, this goes back to the degree of symptoms. Vanishingly few people are on a crusade to defend epilepsy. But that’s also a minority of cases, so we get back into the ethics of “who do we treat and when”.
I would say I’m far less worried about a small pox style campaign of eradication than I am of an institutional gatekeeping, in which one section of the population has full normal access to preventative care while another is denigrated as “naturally autistic” and subjected to all sorts of hostile policing and social policies as a result. Factor in how Vitamin D deficiency in both pregnant mothers and young children is tied back to higher instances of autism, and you’re looking at a whole bunch of knock-on effects that amount to people living in closed off environments having higher treatment needs. As climate change renders outdoor activities more dangerous… well… you can see how folks sheltering underground in air conditioned environments are in a real tight spot.
nah, thanks i prefer to be me
I’m not sure I’d conflate autism with identity. That’s overly genetic-essentialist.
being autistic is a really major part of my experience as a human you know? have you talked to an autistic person before?
Yes. But then I’ve also been told I’m mildly autistic myself. I don’t know if that’s true, but I also don’t know how to describe “being autistic” verses “not being autistic” when I only have my own frame of reference. What’s more, I wouldn’t assign my the majority of my behavior, attitude, and temperament to genetics. A big part of it is my upbringing and another big part is my immediate environment. I’d definitely be a different person without my OCD-ish tendency, but I don’t think I would be somehow deprived or removed if I’d ended up differently.
vitamin d supplements are thing you know?
A thing that achieves more innately what these scientists are attempting to engineer. But the end state is (intended to be) the same. Should pregnant women with low exposure to sunlight be prescribed/forbidden Vitamin D supplements in the name of neurodiversity? Or is this specifically proposed treatment a problem because of some objection to methodology?
comparing autism and epilepsy is insane
There are plenty of syndromes that exhibit both as symptoms. And, in this particular course of treatment, it appears the goal is to eliminate the symptoms by treating the underlying genetic conditions.
assign my the majority of my behavior, attitude, and temperament to genetics
this is the weird thing you do lmao
pretending like it is all genetics is fucking insane in the first place.
low vitamin d is a sickness by itself, as it for example causes depression and malfunctions in the immune system. It is quite a difference to cure people who are just autistic then to treat something that might increase the rate of autism in children. It’s not like vitamin d is the all cause of autism you know?
and the end state is not the same. treating a malnutrition issue is different from removing a part of natural human variation, even if that malnutrition issue caused a intensification of that variation. Autism is for most of us simply not a disease to be treated, but a totally normal way for a person to be. It’s like trying to use gen therapy to ‘cure’ trans people. Or use it to remove black people.
There are plenty of syndromes that exhibit both as symptoms
autism as a symptom of a syndrome? are you okay? do you know what these words mean? this is barley a sentence
Spinabifida is part of natural human variation. ALS is part of natural human variation. Cleft palates are part of natural human variation.
Many aspects of autism are simply lateral differences to NT people that society, in its inadequacy and bigotry, fails to account for, but being “natural” cannot suffice to establish something is “not bad”.
pretending like it is all genetics is fucking insane
The treatment is explicitly stated as gene therapy.
low vitamin d is a sickness by itself, as it for example causes depression and malfunctions in the immune system. It is quite a difference to cure people who are just autistic then to treat something that might increase the rate of autism in children.
Vitamin D deficiency results in the gene-writing anomaly that the proposed treatment is also correcting for. The difference is, firstly, the stage of development when you intercede to make a correction and, secondly, the anticipated success rate of the intervention.
treating a malnutrition issue is different from removing a part of natural human variation
But that’s just it. Malnutrition in pregnant adults is well-established as a casual factor in reduced cognitive function in children. Human variation is a consequence of environmental factors in pre-natal and early development. You aren’t just a product of your parents, you’re a product of your material conditions during the period of gestation.
Should physicians refuse to intervene after a child is born, because of variations caused in their mother during the period of pregnancy?
autism as a symptom of a syndrome?
Rett syndrome is an example of a syndrome that results in the patient’s behavioral characteristics meeting the definition of autism.
this is barley a sentence
Apologies if I no make words good. Me try better harder next time.
What’s more, I wouldn’t assign my the majority of my behavior, attitude, and temperament to genetics. A big part of it is my upbringing and another big part is my immediate environment.
This might be the bit causing confusion, they (and also a lot of autisc people including me) assign a lot of who they are to how they perceive and engage with reality. Autistic people usually have different cognitive functioning, and at that point genetics is just a distant cause at best.
“Curing” autism would mean somehow changing that functioning to a neurotypical one, and that would definitely impact somebody’s identity or behaviour. Also autism is often termed a “behavioural disorder”, so if people are claiming to “cure” autism they most likely mean the behaviours go along with it.
There are plenty of syndromes that exhibit both as symptoms.
This might be just a mistake, but autism is not a symptom and even then the thing there isn’t being advertised as a “tactile hypersensitivity jab” or something like that. Autism is at worst called a spectrum “disorder” with an assortment of “symptoms” in common
Epilepsy on the other hand is indeed a disease. Lot’s of people (like me!) are really fine with staying autistic for the rest of their lives, and would much prefer research be directed at accommodating autistic people. On the other hand I think you’d struggle to find people who are glad to keep their epilepsy.
a lot of who they are to how they perceive and engage with reality
But that isn’t just genetic. Two color-blind people can have very different aesthetic tastes despite both “seeing” the same spectrum of color.
“Curing” autism would mean somehow changing that functioning to a neurotypical one
In this case, the “cure” appears to involve treating secondary symptoms that are far more sever than simple perception. And, again, in mice. This is miles away from a holistic rewriting of consciousness to be neurotypical.
autism is not a symptom
It is diagnosed through its symptoms.
Epilepsy on the other hand is indeed a disease.
Its a disorder that’s diagnosed by a particular brain disorder. And conditions within the brain can produce both epilepsy and autistic symptoms.
But that isn’t just genetic. Two color-blind people can have very different aesthetic tastes despite both “seeing” the same spectrum of color.
Another bad equivalence, colourblind people clearly have “less” vision in that they see less information. Autistic people usually have “different” cognitive functions in a way that’s hard to even describe in text to a neurotypical person.
But even then it doesn’t matter whether the neurodivergence is genetic or not, it has obvious and direct impact in how people see reality and themselves.
And if this is advertised as an “anti-autism jab” treatment rather than say a “social anxiety” one, I hope you’ll forgive me for disliking the obvious ableist implication that “curing” autism is desirable, even if it could be optimistically interpreted as “alleviating common autistic issues”.
This is miles away from a holistic rewriting of consciousness to be neurotypical.
That is still the end goal of organisations like Autism Speaks and I’d rather actual sane people were more careful when talking about the medicalisation of neurodivergence. We live in a world where it’s not even that hard to find stories about autistic people who basically grew up locked in medical institutions being put on all sorts of treatments because this is how our current systems treat neurodivergence. So we can’t pretend that “voluntary” will actually mean “voluntary” when push comes to shove.
It is diagnosed through its symptoms.
And conditions within the brain can produce both epilepsy and autistic symptoms.
It’s still not a symptom so “sharing symptoms” is a moot point. Some people with brain tumours experience sensory hypersensitivity, but that doesn’t mean it’s that related to autism (besides being neurological) or that some kind of autism cure will have any use for that. It’s not even clear from the article if their treatment is directed at “symptoms” or just behaviour.
I’m mostly concerned about intentions given that I too doubt the readiness of the science. Everyone already pounced on you for comparing epilepsy to autism, so I don’t need to go into how absurd that is. Like the others in this thread, I would have loved a reduction in some sensitivities, but I wouldn’t want to be neurotypical.
I’m mostly concerned about intentions given that I too doubt the readiness of the science.
Again, if its experiments on mice, I’m not holding my breath.
Everyone already pounced on you for comparing epilepsy to autism
Right, because they’re looking for something to pounce on. Even setting aside the ample medical evidence of comorbidity, literally just hang out with enough folks and you’ll see the trend.
I would have loved a reduction in some sensitivities, but I wouldn’t want to be neurotypical.
Reducing the sensitivity means approaching neurotypicality. These aren’t independent conditions.
ASD jab: Chinese scientists reach milestone in revolutionary gene therapy for autism
Chinese scientists have reached a significant milestone in creating the first injection that can undo the signs of autism through genetic base editing within the brain.
The treatment, developed by researchers in Shanghai, showed positive results when tested on mice.
The team created a genome editing system, which successfully modified the DNA of mice that had been given a mutation found in some patients with autism spectrum disorder (ASD).
Mice given the injection containing the editing system registered a decrease in ASD-associated behaviour.
In a paper on their research, published in the journal Nature Neuroscience on November 27, the scientists said the potential treatment method could not just be used for patients with ASD, but also other genetic neurodevelopmental disorders.
ASD affects around 1 per cent of the global population. One in every 36 children in the United States is diagnosed with the disorder, according to the US Centres for Disease Control and Prevention (CDC).
The disorder can affect a person’s ability to interact and communicate, as well as cause repetitive behaviours and intense interests.
To study the impact of genomic editing for the treatment of ASD, the researchers created mice with mutations in the MEF2C gene, which they said was “strongly associated” with the disorder.
Mutations in this gene were thought to cause developmental deficits, speech problems, repetitive behaviours and epilepsy, the paper said.
The male mice given the mutation were found to have lower levels of the MEF2C protein in the brain, and had symptoms that mimicked ASD-like hyperactivity, problems with social interaction and repetitive behaviour.
Earlier this month, Britain approved the world’s first CRISPR-Cas9 gene editing therapy for patients with blood conditions such as sickle cell disease.
CRISPR-based systems perform gene editing by cutting the DNA double strand in half, which is repaired by cells once editing is complete. This process can lead to unintended mutations.
To limit unintended mutations, the researchers used a single-base editing system – which they called AeCBE – that is able to work on individual DNA base pairs without creating any cuts.
Li Dali, a professor of Life Sciences at East China Normal University, who is not an author on the paper, said this was the first effective treatment of mice with ASD-related mutations using base editing in the brain, according to Shenzhen-based autism media platform Dami & Xiaomi.
To deliver the system into the brain, it needs to pass through the blood-brain barrier, which is a group of cells that tightly regulate the entry of molecules into the brain.
Researchers overcame this barrier by packaging their editing system on to an adeno-associated virus vector – capable of crossing over into the brain.
The combined editing system and virus vector was administered to mutant mice through a single injection into a tail vein. A few weeks later, the mice were examined.
“The treatment successfully restored MEF2C protein levels in several brain regions and reversed the behavioural abnormalities in MEF2C-mutant mice,” the paper said.
Through examining brain cells of the mice, the team found that the editors were able to perform repairs across the brain at an accuracy rate of 20 per cent, which was enough to raise levels of the MEF2C protein.
The samples taken were a mixture of neurons along with other cells, so the team said that the editing rate of the neurons alone could be higher, as base editing happens preferentially in these cells.
Researcher Chen Jin and his student Zhu Junjie at ShanghaiTech University, who are not authors on the paper, said that “although cases of ASD are extremely complex” this study provides guidance in using base editing to treat neurodevelopmental disorders, according to Dami & Xiaomi.
Expansion of the technology and lower costs would make treatment using base editing more prevalent, the team added.
“Individualised gene editing therapy could become feasible and affordable for patients in the near future,” the paper said.
ASD is a complex disorder, and hundreds of mutations have been found to be related to it, said Zou Xiaobing, chief physician in child development behaviour at the Third Affiliated Hospital of Guangzhou’s Sun Yat-sen University, according to Dami & Xiaomi.
For some patients, the disorder may not be caused by a single nucleotide variation like it was for the mice in the study, but rather more complex mutations that would be difficult to edit.
“Even if an effective gene therapy method is found in a specific single nucleotide variation, it is at least a very valuable thing for people with autism caused by this gene,” said Zou, who is not an author on the Nature Neuroscience paper.
“Continuing scientific, targeted and personalised intervention and training based on the child’s specific situation is still the main way to deal with autism.”
“This work suggests that in vivo base editing might be a feasible approach for intervening in genetic brain disorders in humans,” the paper said.
While the target scope of the team’s genetic editing – as well as that of other scientists – was still limited, the paper said base editing systems with broader targets “would notably facilitate the development of genetic tools to intervene in genetic disorders”.
Paywall so I can’t read the article. Presupposing a problem with neurodivergence is pretty gross. If this treatment eliminates neurodivergence in the child, I completely oppose it. If it only helps prevent lifelong disabilities like nonverbal development, then there could be some benefit.
I mean, like lots of scientific news stories, this is a bit… thin. “We solved it in mice!” is a headline we get for virtually every ailment imaginable and rarely results in a human-ready treatment in the immediate future.
Past that, I don’t think there’s anything you can do to “eliminate neurodivergence” shy of intensive eugenics. There are definitely more sever instances of autistic symptoms and behaviors that undermine quality of life - sever speech impediments, pronounced OCD, epilepsy - that I don’t think you can just condone in the name of diversity. If these symptoms can be treated, you’re in a position to preserve neurodivergence by mitigating their worst manifestations rather than eliminating it.
But gene editing is a dicey business for a whole host of reasons. This has all the hallmarks of a Trolley Problem dilemma, as there’s going to be a real human cost to testing and mainstreaming a treatment that as the potential to make radical changes to the human genome. But it also has the potential to benefit an enormous number of people suffering from a debilitating condition.
So much of the ethics will be bound up in the execution. When and how the treatment is administered, how the various conditions are diagnosed, whether we treat autistic tendency as a real quality-of-life affair or a purely cosmetic condition, whether it is something made generally available or paywalled behind for-profit bureaucracy…
But the idea that we’re just going to eliminate a general form of neurodivergence with a simple jab… That’s more fantasy than reality.
It is very much a ‘we did it in mice!’ thing
they changed some mice genes, saw that they had ASD like symptoms, and reversed that. that might not even be all that doable in humans. first of all we have a lot of genes in human associated with autism. then we have the question of whenever gen editing could reverse structural differences in an already developed brain. Then there is the problem of side effects.
and than ethics and the little thing that many ASD people would rather not ‘cure’ autism. Like making some of the negative things go away or reduce would be nice (for example sensitivity to light), but ‘curing’ autism as a whole? nah, thanks i prefer to be me
The mice thing is interesting because they’ve been doing this for a while. There’s an infection they give to pregnant mice that makes the babies display something like ASD. They’ve treated those symptoms before with a probiotic bacteria. The ‘autistic’ mice stopped doing things like persistently burying marbles but they still ignored other mice. Unsure if this latest thing is similar.
Again, this goes back to the degree of symptoms. Vanishingly few people are on a crusade to defend epilepsy. But that’s also a minority of cases, so we get back into the ethics of “who do we treat and when”.
I would say I’m far less worried about a small pox style campaign of eradication than I am of an institutional gatekeeping, in which one section of the population has full normal access to preventative care while another is denigrated as “naturally autistic” and subjected to all sorts of hostile policing and social policies as a result. Factor in how Vitamin D deficiency in both pregnant mothers and young children is tied back to higher instances of autism, and you’re looking at a whole bunch of knock-on effects that amount to people living in closed off environments having higher treatment needs. As climate change renders outdoor activities more dangerous… well… you can see how folks sheltering underground in air conditioned environments are in a real tight spot.
I’m not sure I’d conflate autism with identity. That’s overly genetic-essentialist.
ehhh what? being autistic is a really major part of my experience as a human you know? have you talked to an autistic person before?
vitamin d supplements are thing you know? a thing that in the scenario you describe would be necessary anyways
comparing autism and epilepsy is insane. one of them causes you to get a seizure and literally die if you are unlucky. the other doesn’t
Yes. But then I’ve also been told I’m mildly autistic myself. I don’t know if that’s true, but I also don’t know how to describe “being autistic” verses “not being autistic” when I only have my own frame of reference. What’s more, I wouldn’t assign my the majority of my behavior, attitude, and temperament to genetics. A big part of it is my upbringing and another big part is my immediate environment. I’d definitely be a different person without my OCD-ish tendency, but I don’t think I would be somehow deprived or removed if I’d ended up differently.
A thing that achieves more innately what these scientists are attempting to engineer. But the end state is (intended to be) the same. Should pregnant women with low exposure to sunlight be prescribed/forbidden Vitamin D supplements in the name of neurodiversity? Or is this specifically proposed treatment a problem because of some objection to methodology?
There are plenty of syndromes that exhibit both as symptoms. And, in this particular course of treatment, it appears the goal is to eliminate the symptoms by treating the underlying genetic conditions.
this is the weird thing you do lmao pretending like it is all genetics is fucking insane in the first place.
low vitamin d is a sickness by itself, as it for example causes depression and malfunctions in the immune system. It is quite a difference to cure people who are just autistic then to treat something that might increase the rate of autism in children. It’s not like vitamin d is the all cause of autism you know? and the end state is not the same. treating a malnutrition issue is different from removing a part of natural human variation, even if that malnutrition issue caused a intensification of that variation. Autism is for most of us simply not a disease to be treated, but a totally normal way for a person to be. It’s like trying to use gen therapy to ‘cure’ trans people. Or use it to remove black people.
autism as a symptom of a syndrome? are you okay? do you know what these words mean? this is barley a sentence
Spinabifida is part of natural human variation. ALS is part of natural human variation. Cleft palates are part of natural human variation.
Many aspects of autism are simply lateral differences to NT people that society, in its inadequacy and bigotry, fails to account for, but being “natural” cannot suffice to establish something is “not bad”.
The treatment is explicitly stated as gene therapy.
Vitamin D deficiency results in the gene-writing anomaly that the proposed treatment is also correcting for. The difference is, firstly, the stage of development when you intercede to make a correction and, secondly, the anticipated success rate of the intervention.
But that’s just it. Malnutrition in pregnant adults is well-established as a casual factor in reduced cognitive function in children. Human variation is a consequence of environmental factors in pre-natal and early development. You aren’t just a product of your parents, you’re a product of your material conditions during the period of gestation.
Should physicians refuse to intervene after a child is born, because of variations caused in their mother during the period of pregnancy?
Rett syndrome is an example of a syndrome that results in the patient’s behavioral characteristics meeting the definition of autism.
Apologies if I no make words good. Me try better harder next time.
This might be the bit causing confusion, they (and also a lot of autisc people including me) assign a lot of who they are to how they perceive and engage with reality. Autistic people usually have different cognitive functioning, and at that point genetics is just a distant cause at best.
“Curing” autism would mean somehow changing that functioning to a neurotypical one, and that would definitely impact somebody’s identity or behaviour. Also autism is often termed a “behavioural disorder”, so if people are claiming to “cure” autism they most likely mean the behaviours go along with it.
This might be just a mistake, but autism is not a symptom and even then the thing there isn’t being advertised as a “tactile hypersensitivity jab” or something like that. Autism is at worst called a spectrum “disorder” with an assortment of “symptoms” in common
Epilepsy on the other hand is indeed a disease. Lot’s of people (like me!) are really fine with staying autistic for the rest of their lives, and would much prefer research be directed at accommodating autistic people. On the other hand I think you’d struggle to find people who are glad to keep their epilepsy.
But that isn’t just genetic. Two color-blind people can have very different aesthetic tastes despite both “seeing” the same spectrum of color.
In this case, the “cure” appears to involve treating secondary symptoms that are far more sever than simple perception. And, again, in mice. This is miles away from a holistic rewriting of consciousness to be neurotypical.
It is diagnosed through its symptoms.
Its a disorder that’s diagnosed by a particular brain disorder. And conditions within the brain can produce both epilepsy and autistic symptoms.
Another bad equivalence, colourblind people clearly have “less” vision in that they see less information. Autistic people usually have “different” cognitive functions in a way that’s hard to even describe in text to a neurotypical person.
But even then it doesn’t matter whether the neurodivergence is genetic or not, it has obvious and direct impact in how people see reality and themselves.
And if this is advertised as an “anti-autism jab” treatment rather than say a “social anxiety” one, I hope you’ll forgive me for disliking the obvious ableist implication that “curing” autism is desirable, even if it could be optimistically interpreted as “alleviating common autistic issues”.
That is still the end goal of organisations like Autism Speaks and I’d rather actual sane people were more careful when talking about the medicalisation of neurodivergence. We live in a world where it’s not even that hard to find stories about autistic people who basically grew up locked in medical institutions being put on all sorts of treatments because this is how our current systems treat neurodivergence. So we can’t pretend that “voluntary” will actually mean “voluntary” when push comes to shove.
It’s still not a symptom so “sharing symptoms” is a moot point. Some people with brain tumours experience sensory hypersensitivity, but that doesn’t mean it’s that related to autism (besides being neurological) or that some kind of autism cure will have any use for that. It’s not even clear from the article if their treatment is directed at “symptoms” or just behaviour.
You should really read about autistic advocacy before debating about the ethics of editing out autism/autistic traits from the human genome.
https://autisticadvocacy.org/ https://autisticadvocacy.org/about-asan/what-we-believe/
I’m mostly concerned about intentions given that I too doubt the readiness of the science. Everyone already pounced on you for comparing epilepsy to autism, so I don’t need to go into how absurd that is. Like the others in this thread, I would have loved a reduction in some sensitivities, but I wouldn’t want to be neurotypical.
Again, if its experiments on mice, I’m not holding my breath.
Right, because they’re looking for something to pounce on. Even setting aside the ample medical evidence of comorbidity, literally just hang out with enough folks and you’ll see the trend.
Reducing the sensitivity means approaching neurotypicality. These aren’t independent conditions.
Nah, it’s clear you’re a reactionary. Stfu.
Yeah, we’ll line reactionaries like you right up next to that.
Come at me, liberal.
Lmao the objective reactionary calls me a liberal. Very meaningful.
ASD jab: Chinese scientists reach milestone in revolutionary gene therapy for autism
Chinese scientists have reached a significant milestone in creating the first injection that can undo the signs of autism through genetic base editing within the brain.
The treatment, developed by researchers in Shanghai, showed positive results when tested on mice.
The team created a genome editing system, which successfully modified the DNA of mice that had been given a mutation found in some patients with autism spectrum disorder (ASD).
Mice given the injection containing the editing system registered a decrease in ASD-associated behaviour.
In a paper on their research, published in the journal Nature Neuroscience on November 27, the scientists said the potential treatment method could not just be used for patients with ASD, but also other genetic neurodevelopmental disorders.
ASD affects around 1 per cent of the global population. One in every 36 children in the United States is diagnosed with the disorder, according to the US Centres for Disease Control and Prevention (CDC).
The disorder can affect a person’s ability to interact and communicate, as well as cause repetitive behaviours and intense interests.
To study the impact of genomic editing for the treatment of ASD, the researchers created mice with mutations in the MEF2C gene, which they said was “strongly associated” with the disorder.
Mutations in this gene were thought to cause developmental deficits, speech problems, repetitive behaviours and epilepsy, the paper said.
The male mice given the mutation were found to have lower levels of the MEF2C protein in the brain, and had symptoms that mimicked ASD-like hyperactivity, problems with social interaction and repetitive behaviour.
Earlier this month, Britain approved the world’s first CRISPR-Cas9 gene editing therapy for patients with blood conditions such as sickle cell disease.
CRISPR-based systems perform gene editing by cutting the DNA double strand in half, which is repaired by cells once editing is complete. This process can lead to unintended mutations.
To limit unintended mutations, the researchers used a single-base editing system – which they called AeCBE – that is able to work on individual DNA base pairs without creating any cuts.
Li Dali, a professor of Life Sciences at East China Normal University, who is not an author on the paper, said this was the first effective treatment of mice with ASD-related mutations using base editing in the brain, according to Shenzhen-based autism media platform Dami & Xiaomi.
To deliver the system into the brain, it needs to pass through the blood-brain barrier, which is a group of cells that tightly regulate the entry of molecules into the brain.
Researchers overcame this barrier by packaging their editing system on to an adeno-associated virus vector – capable of crossing over into the brain.
The combined editing system and virus vector was administered to mutant mice through a single injection into a tail vein. A few weeks later, the mice were examined.
“The treatment successfully restored MEF2C protein levels in several brain regions and reversed the behavioural abnormalities in MEF2C-mutant mice,” the paper said.
Through examining brain cells of the mice, the team found that the editors were able to perform repairs across the brain at an accuracy rate of 20 per cent, which was enough to raise levels of the MEF2C protein.
The samples taken were a mixture of neurons along with other cells, so the team said that the editing rate of the neurons alone could be higher, as base editing happens preferentially in these cells.
Researcher Chen Jin and his student Zhu Junjie at ShanghaiTech University, who are not authors on the paper, said that “although cases of ASD are extremely complex” this study provides guidance in using base editing to treat neurodevelopmental disorders, according to Dami & Xiaomi.
Expansion of the technology and lower costs would make treatment using base editing more prevalent, the team added.
“Individualised gene editing therapy could become feasible and affordable for patients in the near future,” the paper said.
ASD is a complex disorder, and hundreds of mutations have been found to be related to it, said Zou Xiaobing, chief physician in child development behaviour at the Third Affiliated Hospital of Guangzhou’s Sun Yat-sen University, according to Dami & Xiaomi.
For some patients, the disorder may not be caused by a single nucleotide variation like it was for the mice in the study, but rather more complex mutations that would be difficult to edit.
“Even if an effective gene therapy method is found in a specific single nucleotide variation, it is at least a very valuable thing for people with autism caused by this gene,” said Zou, who is not an author on the Nature Neuroscience paper.
“Continuing scientific, targeted and personalised intervention and training based on the child’s specific situation is still the main way to deal with autism.”
“This work suggests that in vivo base editing might be a feasible approach for intervening in genetic brain disorders in humans,” the paper said.
While the target scope of the team’s genetic editing – as well as that of other scientists – was still limited, the paper said base editing systems with broader targets “would notably facilitate the development of genetic tools to intervene in genetic disorders”.