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Scientists Reverse Muscular Dystrophy In Dogs
Al writes "Scientists have taken a step toward developing a cure for Duchenne muscular dystrophy (DMD) by successfully treating the condition in dogs using a novel genetic technique. The scientists used a method called exon skipping, which involves adding a genetic 'patch' to block transcription of a portion of the gene involved in DMD. This puts the remaining genetic sequence back in order, essentially creating a much less severe version of the condition. The scientists recorded some remarkable video footage showing the resulting improvements in several dogs with naturally-occurring DMD. More work is needed before the treatment can be given to humans, however, because DMD sufferers often have different genetic mutations."
The video link is pop up hell in IE.
...the end of Labor Day Weekend Telathons? What will Jerry Lewis do now? Guess my 25 cents in a fireman's boot actually worked.
I'd be interested to see whether or not the "patch" is heritable; the article doesn't mention it. In any case, it's really impressive work.
Ok, seriously. What could possibly go wrong?
We're talking treating people who are almost certainly going to die anyway with a genetic approach that doesn't have even a theoretical way to spread to other people. The absolute worst thing that could go wrong is that the people being treated die from the treatment. The second worst thing that could happen is that we don't do the treatment and they die anyway; though maybe a bit later.
I'm seriously asking, what do you think could actually go wrong?
If this does work, will our descendants have to deal with a more personal variation of Patch Tuesdays??
For some reason, I read the headline as "Scientists Reverse Muscular Dystrophy in Frogs". Reading that, I thought, "Well no wonder the French love Jerry Lewis".
I just found out that two nephews of three are positive for DMD. This basically confirms that my sister-in-law is a carrier. We're in the middle of trying to determine if my wife is a carrier, and thus if our two sons are at risk. To say the least this is a very stressful time in our lives, and there are no quick answers. However, seeing a big jump like this in treatment is great news.
Is there a way to get the original article published by the scientists who developed the technique? My mentorship is heavily rooted in genetic analysis, so I'm interested in these kinds of things.
# patch -p0 < cure-md.patch
File to patch: chromosone/18
patching file chromosone/18
Hunk #1 FAILED at 47.
Hunk #2 FAILED at 128.
Hunk #3 FAILED at 308.
Hunk #4 FAILED at 316.
Hunk #5 FAILED at 328.
Hunk #6 FAILED at 342.
Hunk #7 FAILED at 397.
Hunk #8 FAILED at 708.
Hunk #9 FAILED at 1268.
9 out of 9 hunks FAILED -- saving rejects to file
chromosone/18.rej
æeee!
Really? If I were the betting type, I'd say just about everyone is almost certainly going to die, not just those afflicted with MD. The most important thing anyone can ask for isn't longevity, it's quality of life. Your list of outcomes is incomplete - I'd at the very least put "the treatment leads them to suffer more than they already do" far ahead of any others.
I'm heading for the mountains with my shotgun. Be sure to act intelligent if you see me or else I'll have to assume you're infected!
does these sort of medical tests on animals end up with better treatment of animals aswell by passing the info onto vets or is it generally not considered worth it for mans best friend.
Since the fix isn't inherited, this could increase the rate of this disorder in the whole human race. If genetic disorders never select out, a lot more people would become dependent on the treatment in the future. There's a reason why natural selection is important to the survival of a species. In a nutshell: More people who have this disorder will be able to have children and pass it on.
As one diagnosed with Becker's MD, a milder form of DMD, I, for one, welcome my new exon-skipping overlords. For those of you who are wondering if you should go to the gym, run, jog, shoot hoops, or play soccer today. I give you the same advice that I give to my three boys: Run, because you can.
How is this different from eyeglasses/contacts?
If we can fix it, why should it be selected against?
Natural selection is not a force for the survival of a species, it is not some artist or designer. It is merely the natural tendency for some traits to be selected against from environmental pressure. If there is no environmental pressure against the traits they do not get selected against. This is no different than taller growing trees, lack of food at one height, making an incredibly long neck no longer a hindrance. If a cure was invented that means the environment changed and there is no longer a selection pressure against this trait.
Granted, the carriers of this gene might not be so well off when Mad Max comes to power, but until then we at least keep the widest possible genetic variation in the population so a few of us might be able to drink salt water when "the Mariner" takes over. Unfortunately I can't think of a good way of working in wolves or postmen to this post...
Like domestic oil?
I was making a play on words with Exon/Exxon. Clearly, my attempt at humor this morning has flown way over the head of the moderators..
Taking guns away from the 99% gives the 1% 100% of the power.
Nuh-uh. Did you ever see 28 Days Later?
Zombies. The worst thing that could go wrong are zombies.
Ride the skies
Your list of outcomes is incomplete - I'd at the very least put "the treatment leads them to suffer more than they already do" far ahead of any others.
Yes for cosmetic genetic engineering stuff like changing eye color or womens chest size I'd agree, the possible downsides could be pretty icky.
But, MD is not exactly a joyous party... Even if you intentionally tried, how do you suggest you'd make it even worse? You'd have to do some pretty ridiculous scaremongering like claiming they "could" get something like rabies or ebola, or "could" become lycanthropes. But that doesn't sound very responsible in their situation.
"Science flies us to the moon. Religion flies us into buildings." - Victor Stenger
Will this "patch" remove the "I'm going to butt-scoot across your white carpet" and the "I'm drooling cause you said the word treat" genes as well?
Or, heaven forbid, will this treatment have Viagra-like side-effects?
Sent from your iPad.
Because it's expensive to fix it, and letting it propagate in the gene pool means we'll have to pay to fix it in a higher and higher proportion of the populace.
From an economic perspective, the miraculous state of modern medicine will bankrupt us. From a moral perspective, it's a hard choice to make, about whether we can afford to cure everyone of everything curable.
But I think the simple truth is that the cost/benefit ratio of curing (or partially curing) certain diseases is far too high... especially among the elderly (who have little economic productivity left in them).
I know it's cruel and morally questionable, but at what point do we realize we are bankrupting future generations just to extend our lives a few measly years?
Note that curing MD is something completely different, since it is not a disease of the elderly.
"Trolls they were, but filled with the evil will of their master: a fell race..." -- J.R.R. Tolkien on Olog-hai
... Is that they end up regressing, will someone just bite the bullet and fix upstream?!
Sticking feathers up your butt does not make you a chicken.
Eyeglasses don't fix poor vision. They compensate for it.
Why would you want to deslect for it? Because a population that needs braces, eyeglasses, custom shoes, and a pace-maker at birth is not a laudable goal. In addition to the clear inferiority of "overcoming problems" to "never having problems", there's the issue of what happens if the technology infrastructure breaks down.
On the other hand: the beauty of gene-therepy is that it should be applicable to reproductive cells. Alter the MD gene in an egg or zygote and you remove it from future generations as well. Presumably the same applies to altering the semenal-creating cells in the testies.
I'm seriously asking, what do you think could actually go wrong?
Sometimes the worst side-effects of our actions are those that we hadn't even imagined before it happened. Thalidomide is one example from the medical field-- as far as I know, nobody had an indication that it was dangerous when they first started using it.
Now, I'm not saying that something horrible will go wrong, but I am in favor of extensive testing and forethought into consequences of our medical technologies, particularly when dealing with genetics. Some of the dangers may be overblown by Hollywood, but that doesn't mean there are no dangers.
Since the fix isn't inherited, this could increase the rate of this disorder in the whole human race. If genetic disorders never select out, a lot more people would become dependent on the treatment in the future. There's a reason why natural selection is important to the survival of a species. In a nutshell: More people who have this disorder will be able to have children and pass it on.
That's a good reason not to give kids eyeglasses or braces or, hell, lets not give any medical care to kids at all. And, maybe if you get beat up in the schoolyard, you should be left to die because, well, "survival of the fittest" and all that... You need to explain why Muscular Dystrophy should be singled out for non-treatment, or if not singled out, where you draw the line. Is it because its a genetic treatment? How is that worse than injecting yourself with insulin the rest of your life to keep you well? Or laser eye surgery for the blind or cochlear implants for the deaf?
We are not bankrupting anyone, look at doctor in a box places and what nurses can do these days. Health care is just stating to be commoditized, once that really gets going prices will fall dramatically. There is little need for our current see the MD when you feel ill system. Seeing a nurse, having some tests and letting the doctor review that information is much cheaper and will make healthcare accessible to more and more people.
Conserving healthcare is as dumb as pretending that conservation of electricity will bring about a solution to that issue. Only when we consume so much that the price rises to an unacceptable level is any progress made. This is why war drives progress, bullets at $1 a piece are fine until you need 1 million of them. This is why the electric car will only take off when oil prices surge once again beyond $100 a barrel.
idiot,
I hope you never need a blood transfusion, organ transplant, vaccine or pretty much any other medical procedure developed since blood transfusions were made safe enough to be useful, That research was done using (not surprisingly) animals too.
You peta types are the epitome of clueless hypocrites, and prove it every time you open your mouths.
If you had paid attention to even a semester of actual science classes you would understand the way research actually works, and you wouldent say such obviously stupid things.
Your decision to remain ignorant allows me to feel justified in calling you a willful idiot and ignoring anything else you say on any subject.
Why don't we rejoice that this gives patients a CHOICE in the matter. Let people make up their own minds about the risk.
Currently hooked on AMP
Can you post that with diff -u?
æeee!
Oh yeah, did you ever see "28 Days" with Sandra Bullock? Now that is some scary shit...
Help fight poverty: Punch a poor person.
Really? If I were the betting type, I'd say just about everyone is almost certainly going to die
"Just about" everyone is "almost certainly" going to die? Last time I checked, I'd say EVERYONE is going to die. The only questions are "when", and "by what". Of course, I could be wrong, there are ALWAYS statistical outliers...
Here's to hot beer, cold women, and Glaswegian kisses for all.
What's your Zombie action plan?
I would love to be immortal. But only temporarily....
"But this one goes to 11!"
Massive immune system response to the gene tinkering leading to immediate death.
To quote the OP (MozeeToby):
The absolute worst thing that could go wrong is that the people being treated die from the treatment.
Some gene gets tinkered in the wrong spot and you get cancer too.
Cancer isn't the death sentence it once was.
Go through a costly and/or miserable treatment with no effect.
Baseball analogy: If you don't swing, you will be in for somewhere between 3 and 6 pitches and might get on base if the pitcher sucks (he doesn't, in this case). If you swing at every pitch, you might strike out after 3 pitches. Or you might keep fouling out indefinitely, and get much more than 6 pitches. Or you might get a base hit.
Yikes! Much, MUCH worse than zombies!
"But this one goes to 11!"
We lost this battle with the advent of modern medicine. Anything we do that allows people to live to childbearing age when they would have otherwise died perpetuates bad genes.
Everybody talks about the exons. Won't someone please think of the introns?
Intron: the portion of DNA which expresses nothing useful.
... arg. Meant to qualify that as: ... when they would have otherwise died due to a genetically inheritable condition... I would think this goes without saying, but I am sure if I don't post it some jackass will bring up car accidents or something.
Didn't you see I Am Legend? Thats the worst possible thing.
It will be better to purchase from an owner who is a good farmer and a good builder.
As a zombie, I'll tell you right now that I try to stay away from genetically modified people, and I think they should be banned from the food chain.
Oh? How much does health insurance cost? What, about $20k a year for the average family? That is a HUGE burden on employers/families/the government. It's a huge factor in employment costs, especially in relation to competition that doesn't have that huge overhead.
And yet tort law (and the state medical boards) ensure that this standard of care will not be accepted.
But we're not talking about routine medical care or slight illnesses... the cost of catastrophic medical coverage and treatment of rare diseases is more germane to the topic at hand. The simple fact of the matter is that prolonging the life of someone with a serious medical condition requiring extensive and expensive treatment is often a net negative for society. It's ugly, but it's the truth.
It causes a big moral problem, though -- are only the wealthy deserving of this medical treatment? If all deserve expensive medical treatment, how do we keep costs from bankrupting us?
Seriously... I have family members who would be dead if not for $2 million plus in medical costs. While I don't begrudge my health insurance premiums of $1200 a month for my wife and kid, how much of that is going to pay for catastrophic coverage for someone who will never even come close to paying that back into the system?
As we see more and more advances in medicine, one common factor is that cost also rises. At what point do the expensive treatments simply cost too much for our labor system to bear?
"Trolls they were, but filled with the evil will of their master: a fell race..." -- J.R.R. Tolkien on Olog-hai
They didn't do enough testing of thalidomide. The proper response to mistakes is not to stop doing new things, it is to be more careful (like doing more testing, and developing models that help predict the impact of a molecule prior to that testing).
Nerd rage is the funniest rage.
They didn't do enough testing of thalidomide. The proper response to mistakes is not to stop doing new things...
Yes, which is why I said, "Now, I'm not saying that something horrible will go wrong, but I am in favor of extensive testing and forethought into consequences..."
The videos? I certainly hope they based their findings on more then that.
Correct me if I am wrong, but the untreated dogs shown at the beginning of the video do not appear to be the treated dogs shown in the latter half of the video. The age given for one of the treated dogs is actually 3 months younger then either of the untreated ones shown.
So, what exactly is the video supposed to portray? It is impossibly to make any comparison based on the video because there is no "before" and "after" nor do we have the opportunity to see ANY of the dogs in more then one state, treated or untreated.
All I see is several dogs, never more then once, suffering varying degrees of motor skill loss.
Am I missing something here?
As Red Flayer noted, medicine isn't on a 'getting cheaper' trend. Sure, some basic care is cheaper than ever, but we're still very much making more treatment options - this is good for our health, bad for our wallets.
By that token, I support any families that chose to eliminate inheritable diseases such as MS, MD, even diabetes. Even to the point of aborting fetuses with those traits. Yes, I know about various slippery slope arguements, but let's face it, under older conditions such babies would be chosen against anyways, dying early.
I don't read AC A human right
Then don't allow selection for 'designer' babies, allow selection for broken metabolic paths and such. There's not really an upside to MD, diabetes, multiple sclerosis, etc...
Sickle cell is a bit iffy - but by the time we get around to doing the selection for it, Malaria shouldn't be a problem, or we might have genetic engineering to the point that we can do a custom modification to provide immunity on our own.
I don't read AC A human right
Why have medecine at all, then? We should all just die of gangrene and dysentery. Only the tough deserve to survive!
Making fun of dumb people since 2009
How about we take a step back and simply encourage such people to perform genetic screening, perhaps IVF to avoid passing the genes to their kids?
We're intelligent animals, actually capable of guiding the genetics of our offspring - why wouldn't we want to make sure they have the best?
I don't read AC A human right
Since the fix isn't inherited, this could increase the rate of this disorder in the whole human race. If genetic disorders never select out, a lot more people would become dependent on the treatment in the future.
Talk about a slippery slope. By that logic all medicine should be banned. It's a flawed argument, but regardless, something tells me that's an argument you're not likely to win because people would never be prepared to accept that conclusion even if you could prove you were right.
Certainly one thing you're forgetting is that logical thinking, tool use, technology and medicine are all things that have developed due to natural selection. If our brains hadn't evolved to give us the advantage, the size of the human population would be much smaller. Hell we may well have died out like the Neanderthal.
These posts express my own personal views, not those of my employer
They'll just fuck the dog until the disease kills the patient rather than pay for the cure that could turn him/her back into a productive citizen. Otherwise, Wall Street won't like the numbers and the CEO will have to settle for a 140 foot yacht instead of a 150 foot one.
Without even getting into a cost-benefit analysis of *any* form of medical care - it's astonishing how many people die from diseases that can be treated with substances like... food, clean water, even clean air.
Yes, that's right - every Flintstones chewable you give your kid *could* have been money spent on iodine which saves some other kid from life long brain damage.
So let's not kid ourselves into thinking that "survival of the fittest" is a primarily a biological test for mankind anymore. It's an economic one. You're alive and reading this, not because you're the pinnacle of human health and fitness (lol, this *is* slashdot); but more likely because you avoided dying of poverty. Just like me (though I certainly had some close calls).
If we really wanted to, we could save hundreds of millions more people from dying just using the technology we already have. Heck, if we'd been doing that since the dawn of man - I bet we could have overpopulated ourselves right out of existence by now. We may yet.
Instead, we let hundreds or thousands die to gain the ability to save one. Yeah, sometimes it's Dick Cheney, but sometimes it's Stephan Hawkings.
Food gets eaten, medicine gets used up, research budgets get spent - but knowledge and discover remain. There's your cost benefit analysis.
And I write this as both someone who's spent the last year not getting properly treated for a spine injury because my insurance company decided pain pills were cheaper, and who has a sister who's dying of an unprofitably rare disease. But of course, both of us would have died in childhood anyway if it weren't for medical discoveries that didn't exist in our parents generation.
If so, then all THREE of these are dog-gone shames:
The MD is gone
the pop-up-hell site is a doggone shame
the Dog vs God is a dog gone shame
(woof woof...)
Previously: "Linux... Toward the Sunrise..." Now: "Linux... Toward the-- No, now, part of Every Sunrise"
One doesn't really know - perhaps some of these problems in less sever forms provide some advantage at some point in the organism's life - enough to offset their disadvantages - similar to Sickle cell anemia. I heard some discussion on a possible benefit for the fetus to implant on the uterine wall for one of them - a significant fraction of conceptions end up as unnoticed miscarriages I am led to believe. It is at least conceivable (no pun intended) that one of these problems could be linked to increased efficiency in some biological pathway totally unrelated to the problem - are MS people better at abstract math? do MD people have more efficient ATP production? We don't really know.
Somewhere, Jerry Lewis is hugging a dog in a wheelchair right now and saying "Good news, Puppy, We've found away to reverse Muscular Dystrophy."
The Rapture is NOT an exit strategy.
However, Hawkins was a genius even before his ALS got bad, and on average the benefits from avoiding ALS in the first place exceed any theoretical gains. For that matter, it's likely that we'll lose Hawking early, compared to if he was healthy. As for ATP production, does having it be more efficient at the cost of MD make it worth it? Looking at animal life - these are traits that get selected out quickly and efficiently by nature. By nature bad mutations pop up far more frequently than good ones, but the weeding of natural selection promptly removes the bad ones(on average).
I'm not saying that we don't do a thorough workup, it's just that there are any number of hereditary diseases that don't actually have a benefit. Heck - for sickle cell it might be a benefit to simply make sure that no new babies have the double recessive trait. There might be some other recessive diseases that one copy would actually provide some benefits, such as 'Wiedemann-Beckwith syndrome' aka 'double muscle'. A double copy turns average joe into an involuntary Mr. Universe, a single copy makes it possible. Overall the double copy is negative because it produces so much muscle it over strains the body - the heart and other organs remain normal sized. But with today's sedentary society, a mild case might actually help.
Still, on average I'd say that we actually already DO know, at some point we can say 'For disorder X, there are no discernible benefits, even for the latent/recessive gene'. There's a whole host of genetic defects that can be classed this way.
I don't read AC A human right
I have FSHD (another mild form of muscular dystrophy). If this approach is ever applied to FSHD, I will try to be one of the first in line. To those of you who prefer that we die so that the your conception of the human race doesn't become weaker, I suggest your line of thinking presents a far greater risk to humanity than my genes.
There's no money to be made on future generations that way. Think of it as pay-per-play genetics.
Women are like electronics: you don't know how damaged they are until you try to turn them on.
Massive immune system response to the gene tinkering leading to immediate death.
They are injecting short nucleic acids that block a signal on RNA (a splice site) from being recognized which causes part of it to be skipped and at the end you get a shorter protein. The nucleic acid fragments are not immunogenic, and the shorter protein does not have any new sequences to which the immune system has not developed tolerance. So this is not real concern.
Some gene gets tinkered in the wrong spot and you get cancer too.
This is a concern when developing gene therapy. In this case this is not an issue, because you are not 'tinkering' with the gene. What they target is the RNA transcript of the gene.
Go through a costly and/or miserable treatment with no effect.
Short nucleic acids are cheap to make. The treatment is likely to be an IV injection every few weeks. Compared to slowly loosing your muscles and suffocating because you no longer have strength to bread this hardly qualifies as miserable.
Nope. They are not touching the DNA.
I thought we were against animal testing?
Most personal bankruptcies in the US are caused by medical bills. Doctors, hospitals, pharma, and device makers all have monopolies of various types that prevent the 'free market' from working.
I don't read your sig. Why are you reading mine?
You don't understand the problem. DMD is X-linked recessive. DMD primarily affects boys, who inherit the disease through their mothers. Women can be carriers of DMD but usually exhibit no symptoms. Male patient cannot give the disease to their children, because the Y cromosome they give their male children doesn't have that gene.
I had a cancer and I know people with DMD. I could choose between cancer and DMD I would prefer cancer any time....
Might I recommend Firefox Portable for such people? It's a bloody godsend.
Meta will eat itself
Sometimes, it's not so useful to rely on /. for breaking cutting edge news...
The drug you are interested in is PTC124, otherwise known as Ataluren. It is currently in phase 2 clinical trials IN HUMANS (in the UK, at least) - We have boxes of it...
Idiotic thing to say for an X-linked disease such as DMD. Females can carry one copy of the gene without showing any symptoms, therefore natural selection cannot breed this disorder out of the population. Males with the disorder generally die before they are old enough to father a child.
'Survival of the fittest' hasn't applied for at least a few hundred years when it comes to humankind,
Sorry, "survival of the fittest" is alive and well, even for the human race. You're "fit" if you can produce offspring and keep it alive until it in turn reproduces. There's really no other criterion.
Gatica here we come.
There's no "i" in "Gattaca". Just like there's no base in DNA that has "i" as it's first letter. Adenine, thymine, guanine, cytosine - see, none of these starts with an "i". If you put any letters other than a, t, g and c in Gattaca, then you didn't get the joke.
But with a treatment, the males won't die before they can father a child, so a treatment will make the disorder more common. You actually contributed to my statement in that respect. And that wasn't my point anyway; my point is that there can be things worse (for the general human race) than death.
As to your final point, I would tend to disagree. Who decides what is 'good' for the human race?
No. See the movie Idiocracy for why people are stupider and stupider.
...