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New Drugs May Transform Down Syndrome

It’s rather shocking to me how many presumably-intelligent people say neuroscience is “quack science.” In the first place it’s still a young science, as sciences go. But if many theories (or “sub-theories”) turn out to be wrong, or severely incomplete, that doesn’t disqualify the validity of neuroscience, which is the study of how the nervous system — including the brain — works. Scientists develop theories about this, and prove, improve, or disprove them depending on new discoveries that they make. And then, of course, we utilize the results.

Great stuff has already come out of neuroscience. And speaking from personal experience, that includes some of the much-maligned anti-depressant medications, which can turn a life that has become extremely unpleasant into one that can be downright enjoyable and experienced as being worth the living.

This is wonderful news indeed.

From Scientific American.

New Drugs May Transform Down Syndrome

Recent breakthroughs may lead to pharmacological treatments for the chromosomal disorder

Mar 1, 2014 |By Jenni Laidman

‘People born with Down syndrome have always been considered to be incurably developmentally delayed—until now. In the past few years a number of laboratories have uncovered critical drug targets within disabled chemical pathways in the brain that might be restored with medication. At least two clinical trials are currently studying the effects of such treatments on people with Down syndrome. Now geneticist Roger Reeves of Johns Hopkins University may have stumbled on another drug target—this one with the potential to correct the learning and memory deficits so central to the condition.

‘Down syndrome occurs in about one in 1,000 births annually worldwide. It arises from an extra copy of chromosome 21 and the overexpression of each of the 300 to 500 genes the chromosome carries. “If you go back even as recently as 2004, researchers didn’t have much of a clue about the mechanisms involved in this developmental disability,” says Michael Harpold, chief scientific officer with the Down Syndrome Research and Treatment Foundation. But all that has changed. “In the past six or seven years there have been several breakthroughs—and ‘breakthroughs’ is not by any means too big a word—in understanding the neurochemistry in Down syndrome,” Reeves says. [ ... ]‘

Scientific American The article continues with a description of the subject research.

24 Comments

  1. Mr Ed says:

    I beg to differ on the assertions relating to neuroscience. When people call it ‘quack’ science, it is probably because it is just that.

    E.g. The Galactic scale bullshitter Freud, he pioneered the renaissance of bullshit as science after the alchemists had been discredited.

    http://www.theguardian.com/science/neurophilosophy/2014/mar/10/neuroscience-history-science

    Scientist, find a mechanism or shut up until you do.

  2. Julie near Chicago says:

    Freud’s not a household name for his work as a neurologist but for his psychological theories. (That’s the first point made in the article.)

    However, the fact that some salesmen sell snake oil doesn’t mean that all salesmen sell snake oil. The fact that some doctors are quacks doesn’t mean that all doctors are quacks.

    The fact that claims to have made “cold fusion” work turn out to have been quackery doesn’t mean that all nuclear physics is quackery.

    Etc.

    I’m sure many of the paths that have been thought worthy of exploration by neuroscientists have proven, or will be proven, to be dead-ends or worse. So what? That’s the case with every science, even physics. Even math.

    . . .

    “Scientist, show the mechanism!” Mr. Ed, you sound just like me, except that I usually let fly at claims of proof based on statistics. There are times when we can’t as yet do any better than to use statistical methods in studying some physical phenomenon (or class of phenomena), but my attitude is that we do not understand when we can’t explain the mechanism. So I perfectly understand your point, and I’m strongly of like mind.

    The point of the Guardian article is precisely that as a neurologist Freud WAS looking at, or looking for, the mechanism. As one example:

    In the 1830s, Theodor Schwann and Matthias Schleiden had proposed, on the basis of what they had seen under the microscope, that all living things consisted of fundamental units called cells. But the microscopes available at the time were not powerful enough to resolve synapses, the miniscule gaps between nerve cells, and histologists were divided into two camps – the neuronists, who argued that the nervous system must consist of cells like all other living things, and the reticularists, who believed that it was composed instead of a continuous network of tissue.

    Freud made a significant contribution to this long-lasting debate. In the late 1870s and early 1880s, he observed the relationship between the grey matter and the nerve fibres that emerge from it, and described it accurately and consistently. The diagram above, from a paper that he published in 1877, shows the spinal cord of the lamprey, and includes what appear to be nerve cell bodies within the grey matter.

    And it goes on to explain a bit about his methodology of staining tissues, quotes part of his statement of his results and the possibilities they suggest, and ends by saying he “very nearly discovered the neuron.”

    All aimed at finding the physical explanation of how nerves function: The mechanism.

    I never knew anything about Freud’s pre-psychoanalytic phase, so thanks a lot for posting the article. It seems the “Grauniad” CAN say something really interesting, when so minded!

  3. Roue le Jour says:

    The problem with SSRIs, Julie, is that they are good for some people and harmful to others, and the docs can’t seem to figure out which group a patient falls in without “try it and see”.

  4. Julie near Chicago says:

    That’s all very well, but they do exist and when they are helpful they can be lifesavers. Furthermore, there are antidepressants that aren’t SSRI’s; for instance, Effexor, which built up a reputation in Europe for effectiveness, few side-effects, and safety long before the FDA approved it here, I understand. It works beautifully for me. And there are several others.

    And don’t believe everything you hear on TV or read on the Internet. It’s questionable whether Prozac is anything like as dangerous as claimed. I’ve used it myself and it was very, very helpful for awhile.

    Anyway, when a person has a serious problem of some sort (maybe not even a medical problem, just a life problem!) “try it and see” may be the best option available. So SSRI’s aren’t guaranteed 100% safe. So try the non-SSRI’s first, or find a GOOD psychiatrist (if you can) who knows how to work safely with this or that SSRI. They do exist; I’ve had one.

    Anyhow, I don’t deny the problems, but I’m mighty glad I live in a time when therapies are available for so many medical problems, even if some of them are highly problematical. An example is lung transplants. Very dangerous, very painful, but you might well choose to take the risk if the payoff is another five years of life. Heck, even aerobic exercise has killed people. And I mean just normal jogging, not anything obsessive like trying to run 100 miles every day at 12 mph or something.

  5. NickM says:

    Mr Ed,
    Julie is right. Freud was a bullshit merchant of the first water but he was only glancingly a scientist. Neuroscience involves actual science like MRI machines and biopsy results and stuff and not basing an entire theory of human nature on the sexual hang-ups of 6 Vienna housewives. To be fair to Freud (which I find hard) he was nowhwere near the level of git DH Lawrence was. Although Lawrence openly wrote fiction. Having said that both are seen by many as contributed to how we see ourselves. And in a sense the did because people took ‘em seriously even though they were talking out of their…

    Well, I know a bit about DHL (the beardy weirdy – not the logistics company). I know because he’s about the most famous student of Nottingham University (not me nor RAB yet!). They have a statue of him looking serene and holding a butterfly. Seriously. Now who should Nottingham truly celebrate… Well, a bloke I was on first name terms with… Professor Sir Peter Mansfield. Why? He essentially invented MRI scanners. He won the Nobel in Medicine for it.

    Now that is a genuine and massive contribution to understanding the noggin. But not as edgy as DHL so doesn’t count. Oh, and he’s still with us so a statue is premature. I used to have tutorials in the MRI building. They was doing some weird stuff in there. You had to check keys and bank cards at reception because there were serious Teslas going on. The building hummed contentedly. Now what they were working on at the time was taking MRI from stills to movies which meant it would become not just a diagnostic but a research tool. I knew a guy who put a pot plant in an MRI machine. He was following the water flow in it in real time. I asked “why?” He said if it all goes Pete Tong it’s easier to explain the keeping the aspidistra flying. Fair enough. Hellishly powerful magnets.

    But I guess there are three breeds of physcist. The bog standard who could be accountants, the poets and the totally deranged. The last two classes have an overlap and it is called Nikola Tesla. Wondrous, genius, totally mad. I know my fate. It shall be misadventure. I will do something so stupid it kills me. But hey! That’s life.

    What is a cruel impersonation of life is DHL. He is celebrated at a University that wouldn’t give him a degree so he hated it. He eloped with the wife of a Professor of German who he admitted wasn’t the best looker but was up for anal sex. I am not making this up. How could I? Apparently he dreamed of “sex without friction” whatever that means.

    So I went into fluid dynamics.

    But you are right Julie. A boss of mine once told me it is called RE-search because you have to do it again and again.

    Oh, and seeing as I watched what Alzheimer’s and Parkinson’s did to my Gran and Grandad I will take up cudgels in the name of science. No God I could believe in would allow those things. My Gran (Alzheimers) was incapable of speech towards the end. But we are getting better. Good. I see a future (if we don’t bugger it) brighter than anything I can imagine. I can also see the reverse. Let’s keep real folks. And Julie, we’ll celebrate a two-hundreth birthday with umbrella drinks on the shores of the methane seas of Titan. Or we’ll bugger it up which we seem to be…

    http://www.youtube.com/watch?v=bba5kjtZB9Q

    And there is a core phrase there. People are scared by “A future brighter than anything we can imagine”. I am not. Bring it! When I was a young kid I watched TV in B&W. I now have a 32″ Samsung connected to a Bluray and a Sky box that picks up several hundred channels. My first computer had 48Kb, this Lenovo has 8Gb. I still have a film camera. But my first excursion with my Sony Alpha DSLT was interesting. In the Hagia Sophia in Istanbul I decided to photo a fresco. It was of Christ (dating to the time it was a church) and face rec comes up.and clocks His face. Wow! Just wow!

  6. Roue le Jour says:

    Julie, I wasn’t believing anything I read on the internet. SSRIs don’t work for me. A terrifying experience I wouldn’t repeat for any amount of money. You know that scene in the movie 2001? “My mind’s going, Dave. I can feel it.” Yeah, just like that. Work just fine for my sister, though.

    My totally layman’s guess is that there is a ‘type’ for brain chemistry like blood type, and if we understood it we could predict this stuff.

  7. This is very good news, For far too long there has been an unspoken attitude to many terrible conditions (not just the one mentioned in the article) “it is to do with the brain – therefore there is nothing we can do”. The brain is indeed the most complex and difficult organ of the body – but such doctrines as “nerve cells [including brain cells] can never be resorted – once they are gone they are gone” are more ideology than science.

    Science is about understanding “why” – for example why do brain cells not grow after a certain age. But science is not just acceptance – science and technology (the broad definition of “technology”) is also about – “right is there any way round this?”. Not just dumb acceptance.

  8. NickM says:

    Well that is bioscience for you. Physics got boots on earlier. You want a bomb to flatten a city? You want an XB-70 Valkyrie that will deliver it at Mach-3+… Speak to the lads and lasses with the propelling pencils. It is all down to Newton really. We got our boots on centuries before biology. Now biology is hard science and we shall see wonders. As long as we don’t eff it up – always a risk. And, yes, “why?” is the essential question. (note my riff on “the essential tension”), To put it very bluntly physics is hard but biology is complicated which is a different kinda hard but we have computers now and they do complicated. I think if I restarted now biology would be my field. But then I’m a constipated mathematician but I can work it out with a pencil. I wish I hadn’t said that but I was brought up on “Carry On” – “Infamy, Infamy! They’ve all got it in for me!”

    I came very close to getting into biophysics but it would be biomathematics now. The application of truly hard science to what had been a softish science is dramatic. And cool. And science is cool.

    That was not a throw away line (it is funny mind). Wordplay and punning are first cousin to the dance of symbols that is maths and music and such. Civilization in other words.

  9. Just out of curiosity, does anyone know how popular Google + is? Do people really use it much?

  10. Julie near Chicago says:

    Roue, I do apologize. I didn’t mean to sound either snippy or condescending, but I think I did both. I hear so much railing against any kind of treatment for “psychological” problems, be they pharmacological or not. And I myself have been severely unimpressed with the profession (generally speaking) of psychotherapy all my life.

    Beyond that, there is all this ranting against physical treatments (drug or medicinal treatments, I mean) because…because WHY! It seems to me a lot of it is that it’s so much more comfortable to moralize against the sufferer.

    And then there was the topic at hand, which was whether “neuroscience is quackery.” Your remark about SSRI’s walked right into that, I’m afraid. :(

    In any case, I’m sorry about your own personal experience (and I’d be interested to know what you tried and how it did affect you, if you’d care to say — if you’d like to e-mail me, try juliekrauss domain yahoo period com). I hope you’re in good shape now.

    Beyond that, what is this, there’s a mental-health test you have to flunk to enter the Felicitous Feline Fiefdom of Zanzibar? !!

  11. Julie near Chicago says:

    Oh, I forgot to say — I’m quite sure you’re right about differences in brain chemistry, or neurochemistry in general. After all there are big differences in other areas of biochemistry…including what happens to whom when he eats what. And differences in the way people respond to other drugs.

    Speaking of which, I was thinking about penicillin. Some people are severely allergic to it. Yet what a miracle for everybody else when it came on the market! But there must have been horror stories about people who took it and died or almost died as a result.

  12. Julie near Chicago says:

    Nick,

    *Ee-ee-eww-www!* (Required response to a truly awful, i.e. a really excellent, pun.) Never heard that one though. What is this “Carry On”?

    Agree about puns and wordplay! –This feels awfully familiar. Did we have a discussion about this sometime about five Administrations back?? –And music, math, symbols. The symbols themselves speak to me. Before I learned to read & write, grownups’ writing spoke to me. The marks on the paper. Also keys, the kind you press I mean–typewriter keys, piano keys, computer keys are OK but they don’t have the arousal factor of the good old IBM Selectric…and plugs and jacks, as on the old-fashioned telephone switchboards. As a kid I thought it would be heaven to work at one of those boards!

    I would be delighted to meet you for umbrella drinks, place and time as specified. I do assume that Mrs. Nick will join us, as well as Timmy. Naturally Lucy will come too. She better–I just spent $ 950 to bring her up to par! If that doesn’t buy her another couple of hundred years then I’ve been cheated. *snarl*

    Nick, you KNOW Sir Peter Mansfield? What’s he like? He looks like a good guy from his WikiFootia photo. (Speaking of pædiatrics.) Yes, anybody who did serious work developing MRI deserves a statue at a minimum, and I have no doubt the Nobel as well.

    Oh yeah, DHL. Well, he can just keep his brace of coneys to hisself.

  13. Julie near Chicago says:

    Paul– “Not just dumb acceptance.” Absolutely right. Just in the last couple of days I’ve heard Prof. Epstein make the point at least twice that even with the explosion in scientific knowledge that started in the 16th Cent., when the average life expentancy was 40, in the 1850′s it was still 40…and then it shot up to 46 in just the space of about 2 years, as the “disease theory” (his term) was developed. But then, your point, PUT TO USE, and look how long a lot of us live now. Even my grandmother, who died in 1949, was 73 IIRC.

    Anyhow, it is wonderful news. I just hope some of this research really does bear fruit. :>)))))

  14. Roue le Jour says:

    I don’t mind talking about it, Julie, it was a long time ago, nearly twenty years, and I wasn’t ‘top meself’ depressed anyway, just fed up with being miserable. I had friends that had positive experiences with Prozac so I chatted the doc up into giving me a packet. I only took one and the side effects were so severe I never took another.

    I popped one and toddled off to work, expecting to notice nothing for several days as predicted by the doc. Instead I arrived at work a staggering drooling zombie to cries of “My God! What’s wrong with you? You look awful” from my colleagues. I mumbled something about a virus and slumped in my chair, staring uncomprehendingly at the screen. I managed to bluff my way through the day doing nothing, and at midnight the drug abruptly wore off the way the dentists anesthetic does, and in a few seconds my brain was back to functioning normally. Once my brain was working again I was absolutely furious that I had been conned, as I saw it, into taking a powerful and dangerous drug (dangerous because I wasn’t angry about it until it wore off, i.e. self preservation compromised) and about to flush the rest down the toilet, but stopped myself and sent them back to the doc with a ‘not happy’ letter.

    It was at that point that I started researching on the net and formed the conclusion that SSRIs should be prescribed much more carefully. There’s something weird going on there, and I’m afraid the drug companies aren’t looking into it. (For fear of a lawsuit, most likely.)

  15. Mr Ed says:

    My point re Freud is that ‘neuroscience’ veers towards his ramblings and speculative statements.

    Biophysics boils down to watching a giraffe run.

  16. NickM says:

    Roue SSRIs are weird things. Lustral did me no favours. Side effects included impotence which doesn’t do much for the confidence of a guy in his 20s. Getting a girlfriend who was beautiful and unbelievable forgiving of my many quirks did. I really don’t know how much depression (some forms) is biochem or circs. I’d split-up with a girl and my PhD was going to pot and I was sharing a house with total fucking wankers in a rough area of Leeds. It reminded me of a quote from Marilyn Monroe. I can’t easily find it but basically it went like this, “I have spent hundreds of hours and thousands of dollars on therapy and you ask me why I’m depressed?”

    Short version. Can you simulate a Intel Core i5 on an Intel Core i5? Can you take it apart with itself? Yes, as Julie points in the OP out there are physiologically-based conditions that can be treated (at least in principle) but the human mind can’t understand the human mind. That is true in a very deep way.

  17. Julie near Chicago says:

    Nick, your last point: As far as I’m concerned, the “mind” — consciousness — is nothing else than the way we EXPERIENCE the workings of our brains. We don’t feel all those cute little electrons running hither & thither amongst the neuronic halls, surrounded by their pulsating fields.

    I assume that someday we’ll be better able to correlate biochemical neuronic happenings with the way we experience them as they are happening, and I hope use this understanding for good (healing) and not evil (dream on), but as has been said, all that understanding of the how won’t replace the event. This is the most profound example of “the map is not the territory” that I know of.

    But consciousness and mentation of various sorts really truly are there. I may not be able to show Jack’s consciousness to Jill, but Jack Jill and Julie can each experience his or her mind/consciousness/self directly, him- or herself.

    So? So consciousness grows out of bodily physical activity, but it is not the same thing as that activity. The concept of consciousness is a primitive, and one grasps its real referent either through one’s own direct experience of that referent, or not at all.

    In short, “The human mind can’t understand the human mind” is rather a neat way to put the general idea, assuming (as always) that one takes the statement the right way.

    Oh–and I should think that the total system of nerves and electrochemical activity would be a chaotic system like the atmosphere, only probably a gazillion times harder to get hold of.

    :>))

    RlJ, thanks for the explanation. It sounds to me as if your doctor did you no favor. When I started Prozac I was told we would begin with the smallest possible dose and see what the results were. Also that many people had a spell of increased anxiety for a week or two sometime during the first month. And I did notice that, but it wasn’t terribly bad and knowing about it ahead of time made it much easier to deal with. Anyway, I can see why you would have a certain wariness regarding SSRI’s!

    Nick, what’s Lustral? Never heard of it.

  18. NickM says:

    Lustral is an SSRI much like Prozac. You are right about the map/territory thing. Borges wrote a story on that subject (though Carroll had written similar) called on “Exactitude in Science”. It involves a (fictional) kingdom which decides to create an exact 1:1 map.of the kingdom. Just read “Labyrinthes” by JLB. It is awesome.

    Anyway do we really want to know ourselves like that? Do we really want to know how we came-up with the killer line that gets you into bed with that person we really, really fancy. Do we really want to know why we fancy them that much in the first place. We want to know how it feels but do we really know why it feels. I love the music of Palestrina. Do I need to know why?

    Einstein no less once said it made no sense to understand a piece of music in terms of the physics of sound waves. I feel much the same about having sex. All that theorising about endorphins or Freud or Kinsey wittering on. At University I didn’t study study love and sex. I did it. Unlike those two coves. And I know beauty, power, passion, love and loss because I’m kinda emotional. Some say you can measure sexual attraction in terms of relative bodily dimensions. I refer you back to Einstein. And to Robert Frost…

    “Some say the world will end in fire,
    Some say in ice.
    From what I’ve tasted of desire
    I hold with those who favor fire.”

    Don’t get me wrong. There is much to understand scientifically we don’t yet and I love science but that is a part of my life. Another part of my life is lived in fire and not the ice-logic of Maxwell’s equations (though those inspire a passion of a different sort).

    If, due to some calamity, nothing survives of our civilization but two things then the Kyrie of Palestrina’ Missa Papa Marcelli and Maxwell’s equations might make a fitting epitaph.

    http://www.youtube.com/watch?v=IIcrgNtyX0U

    ∇.D=p

    ∇.B=0

    ∇xE=-∂B/∂t

    ∇xH= ∂D/∂t+j

    OK, not perfectly rendered. The vectors ought to be bold and p ought to be a rho and that but you get the drift.

    But yeah, that’s enough.

  19. Julie near Chicago says:

    Haven’t listened to any Palestrina for a long time…very good, thanks for the link.

    I agree. Maxwell’s Equations are magnificent. Elegant, beautiful. :>))

  20. Julie – agreed on opposing dumb acceptance (for example why should we just accept the decay of the brain with age?).

    As for the high philosophy stuff – well hard to say.

  21. Julie near Chicago says:

    Well, Paul, that’s why we all need to take six months off and get together so we can thrash it all out and finally get the question settled.

    One thing I AM sure of: The answer is NOT 42.

  22. NickM says:

    It’s 43. I could tell you but then I’d have to kill you ;-)

  23. Julie near Chicago says:

    Nick! PLAGIARIST! You got that from me, months ago! (Maybe it was years ago. At least 43 of them. –I never admit to having had more than 43 of them. Which was the subject under discussion at the time. :) And You were trying to foist your 42 of on ME!! You said something about you got it from some dam computer or something.

  24. Julie near Chicago says:

    And another thing. I never balance my parens.

    I mean, I mean to, god how I mean to, I try, I try SO HARD — but — the flesh is willing, but the Mac is weak?

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