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Medicine Science

Researchers Study Mystery of the Toddler Who Won't Grow 252

Posted by Soulskill
from the stubborn-genes dept.
kkleiner writes "Twenty-year-old Brooke Greenberg hasn't grown since age five. For the last 15 years, mystified doctors have been unable to explain the cause for Brooke's disorder that has kept her aging in check. At age twenty, she maintains the physical and mental appearance of a toddler. The researchers are now are painstakingly analyzing Brooke’s entire genome in search of unique mutations. Needless to say, it is a formidable undertaking. 'Cracking the code on Brooke’s condition,' [Dr. Eric Shadt] wrote, 'is the proverbial searching for a needle in a haystack, since likely there is one or a small number of letters changed in Brooke’s genome that has caused her condition.' To find the mutation Shadt and his team are using the latest genome sequencing and analysis tools. The strategy is to compare Brooke’s genome to the genomes of her parents and three normal sisters, as well as to other available sequences from the general population, and identify gene mutations that only Brooke has."
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Researchers Study Mystery of the Toddler Who Won't Grow

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  • 4chan (Score:5, Funny)

    by Anonymous Coward on Wednesday January 16, 2013 @03:32PM (#42608137)

    4chan is going to love this one.

  • by queazocotal (915608) on Wednesday January 16, 2013 @03:36PM (#42608187)

    Perpetual kittens.

    • by nephilimsd (936642) on Wednesday January 16, 2013 @03:37PM (#42608205)
      I wonder what the long term effects of this condition might be. Is it possible to die of old age when you don't age?
      • by wonkey_monkey (2592601) on Wednesday January 16, 2013 @03:52PM (#42608409) Homepage
        !growing != !aging
        • by Baloroth (2370816)

          !growing != !aging

          Sure, but the summary specifies that she doesn't age, so unless you know that's wrong, your point is kinda pointless.

          • by deesine (722173) on Wednesday January 16, 2013 @04:10PM (#42608675)

            It's not in the summary or article, but wikipedia [wikipedia.org] says her body is aging, with different parts aging at different rates. And that "her telomeres seem to be shortening at the normal rate."

            • It's not in the summary or article, but wikipedia [wikipedia.org] says her body is aging, with different parts aging at different rates. And that "her telomeres seem to be shortening at the normal rate."

              Wikipedia. To misquote the Simpsons, the source of - and solution to - all the internet debates.

          • Sure, but the summary specifies that she doesn't age, so unless you know that's wrong, your point is kinda pointless.

            Inferring that she doesn't age from "maintains the physical and mental appearance of a toddler" is a bit of a stretch.

            • by chrismcb (983081)
              Perhaps, but reading this from TFS: " Brooke's disorder that has kept her aging in check." Seems to imply she isn't aging. Of course maybe my definition, and the summary's definition of "aging" differs from yours.
      • by MightyMartian (840721) on Wednesday January 16, 2013 @03:55PM (#42608461) Journal

        I'd be interested to see a telomere study. Physiologically she's four years old, but is she four at the cellular and genetic levels?

        • by Baloroth (2370816) on Wednesday January 16, 2013 @04:02PM (#42608561)

          I'd be interested to see a telomere study. Physiologically she's four years old, but is she four at the cellular and genetic levels?

          According to this [sciencedirect.com] study, her telomeres match her chronological age, so she appears to be aging in that sense.

          • by Nadaka (224565)

            Good to know she merely the "fountain of youth" not the "fountain of immortality".

            • by GameboyRMH (1153867) <gameboyrmh AT gmail DOT com> on Wednesday January 16, 2013 @04:28PM (#42608943) Journal

              Yeah we are nowhere near mature enough as a civilization for such a discovery. It would be like discovering nukes in the bronze age.

              • by Iamthecheese (1264298) on Wednesday January 16, 2013 @04:40PM (#42609107)
                Strongly disagree. There are many people emotionally invested in accepting death but a cure to aging can't come soon enough.
                • by GameboyRMH (1153867) <gameboyrmh AT gmail DOT com> on Wednesday January 16, 2013 @04:48PM (#42609227) Journal

                  Can't you see the unholy hell that immortality would unleash on a civilization that is just starting to wake up to ideas of conservation and natural resource management? Or on a related note, how immortality would be handed out, managed and exploited under capitalism?

                  • Re: (Score:3, Insightful)

                    by Bucc5062 (856482)

                    Can't you see the unholy hell that immortality would unleash on a civilization that is just starting to wake up to ideas of conservation and natural resource management? Or on a related note, how immortality would be handed out, managed and exploited under fascism

                    ftfy

                    Capitalism left the building a while ago.

                  • Re: (Score:3, Insightful)

                    by Macgrrl (762836)

                    One would hope that if we found a way to significantly extend the human lifespan, people would become much more interested in conservation and issues like Global Warming, because they would potentially be around long enough to see the effects of their actions.

                  • Can't you see the unholy hell that immortality would unleash on a civilization that is just starting to wake up to ideas of conservation and natural resource management? Or on a related note, how immortality would be handed out, managed and exploited under capitalism?

                    I guess that was supposed to be rhetorical since it's obvious such a thing would be only available to the 1% or some fraction of it like most high end medical care.

              • by bikin (1113139) on Wednesday January 16, 2013 @05:04PM (#42609511)
                Not possible; Atomic Theory would have triggered the Modern Age, and besides Riflemen are enough to kick Spearmen ass.
          • Which means, whatever the apparent signs that she isn't aging, she is accruing genetic damage over time and will age at least in the cellular sense.

      • Well... I guess we'll find out when she dies and the news makes it to Slashdot. Even then, I wouldn't bet on it amounting to much--the article said she had a stroke at an early age, and that's normally something that usually comes at a later age...

    • by crazyjj (2598719) * on Wednesday January 16, 2013 @04:00PM (#42608531)

      Perpetual kittens.

      Normally, I'm against screwing around too much with nature. But goddamn that would be worth it!

      • by tacokill (531275)
        I know you are joking but this is one my pet peeves.....
        What, exactly, do you mean by "screwing around with nature"? What do you see around you that is not "nature"?
        Are you suggesting that we don't intervene and utilize the world around us to better ourselves and our lives?

        Basically, I don't know what the fuck you are talking about when you use words like "nature" and "natural". Everything in the entire universe is natural. The word has no context when you say "we shouldn't mess with nature".
    • by jez9999 (618189)

      As cats only live 10-20 years, locking them at age 5 would be more like perpetual middle-aged cats. :-)

      • by MachDelta (704883) on Wednesday January 16, 2013 @05:35PM (#42609969)

        Which would be better, I think.

        As a kitten, my cat was entirely too curious/fearless and once spent about 30 seconds inside a dryer before I figured out that "thump-whump-meow" is not the normal operation of said dryer, and also that my cat was missing. (Fortunately, aside from a slightly warm bum, the faint scent of fabric softener, and an 8-month-long fear of large white appliances, he was fine).

  • by Anonymous Coward on Wednesday January 16, 2013 @03:38PM (#42608227)

    The Grups are studying her intensely.

    BANG BANG

  • brain damage? (Score:5, Interesting)

    by pezpunk (205653) on Wednesday January 16, 2013 @03:40PM (#42608241) Homepage

    obviously the scientists studying her have far better qualifications and information than i do, but i can't help but think damage to the brain due to the stroke, coma, and brain tumor she suffered at age 4 (right before she stopped developing) could be a more likely cause than her particular genetic makeup.

    • by eldavojohn (898314) * <eldavojohnNO@SPAMgmail.com> on Wednesday January 16, 2013 @03:50PM (#42608393) Journal

      obviously the scientists studying her have far better qualifications and information than i do, but i can't help but think damage to the brain due to the stroke, coma, and brain tumor she suffered at age 4 (right before she stopped developing) could be a more likely cause than her particular genetic makeup.

      Well from the article they said:

      “has no apparent abnormalities in her endocrine system, no gross chromosomal abnormalities, or any of the other disruptions known to occur in humans that can cause developmental issues.”

      I assume that the endocrine system would have to be affected in order to cause such stunted growth? If the stroke, coma or brain tumor led to this wouldn't they see that abnormality reflected in these growth regulating systems? Also from the article the researchers claimed:

      “Cracking the code on Brooke’s condition,” Shadt wrote, “is the proverbial searching for a needle in a haystack, since likely there is one or a small number of letters changed in Brooke’s genome that has caused her condition.”

      Some googling turned up older studies [wikipedia.org] that claim there are no known genetic disorders present or even chromosomal abnormalities and her telomeres seem to be shortening at the normal rate. Also, apparently her body parts are developing out of synchronization. I guess it's possible there is a hidden system that synchronizes development so that your body doesn't develop asymmetrically? And we just haven't found this yet.

      Sort of offtopic but I'm a little disappointed that this unfortunate affliction for this person is being spun as a possible "fountain of eternal youth" in the article. Come on, people. We should be working to better understand this so we can help people ... that Kurzweil Singularity bullshit should be left out of the discussion until we fully understand it.

      • Re: (Score:3, Funny)

        by Anonymous Coward

        Her condition may not be exactly "horrible". It's hard to know what she thinks of not being an adult.

        When I was 5, I though girls were icky. Continuing to be able to think that might have saved me a lot of time and money.

      • Sort of offtopic but I'm a little disappointed that this unfortunate affliction for this person is being spun as a possible "fountain of eternal youth" in the article. Come on, people. We should be working to better understand this so we can help people

        I dunno, is there any indication that she's in any physical or psychological pain, or that her lifespan is going to be significantly reduced from normal? Besides, if the cause is directly genetic (that is, it's not a genetic disorder that then modifies, say, hormone levels, which cause the disorder) then it's not likely a treatment is even plausible.

      • by Cyberax (705495) on Wednesday January 16, 2013 @06:25PM (#42610711)
        Well, I'm actually a member of the team that works with her DNA. Right now we are busy with phasing her genomic data. We are trying to resolve for each mutation (SNP) on which chromosome it is present. Our technology is basically the only cheap way to do it. Unfortunately we only have her transcriptome data, not the complete genomic data. Other teams have not found anything excessively unusual, so it is entirely possible that an unusual combination of recessive mutations is responsible for this condition.
    • by cfulton (543949)
      Stop being logical and making sense. She is the key to life eternal. You just wanna kill our joy at the proposition of a pill that allows us to live forever.
      • Re:brain damage? (Score:4, Insightful)

        by Obfuscant (592200) on Wednesday January 16, 2013 @04:31PM (#42608985)

        She is the key to life eternal.

        No, she is the key to never developing past the physical or mental age of 5. Nobody said she'll never die. Five year olds can die, too.

        And while she's got a lock on the physical age thing, many /. posters demonstrate the prior art that would prevent her from getting a patent on the mental part.

    • Re: (Score:3, Insightful)

      by K. S. Kyosuke (729550)

      damage to the brain due to the stroke, coma, and brain tumor she suffered at age 4 (right before she stopped developing) could be a more likely cause than her particular genetic makeup.

      That sounds rather implausible. Many people have suffered brain damage in childhood, how many of them stopped aging because of that? That would have to be an extremely specific kind of damage. (Keep in mind that even for brain damage, it's often difficult to disable a part of brain's functionality to full extent since the brain has a capability of "routing around".)

      • Re:brain damage? (Score:5, Insightful)

        by sjames (1099) on Wednesday January 16, 2013 @04:25PM (#42608903) Homepage

        Since she seems to have a one of a kind problem, any answer (even the correct one) will be implausible from a statistical standpoint. Either of the "it never did that before" variety or the "That never happens" variety.

      • by pezpunk (205653)

        of course it's implausible. she is completely unique amongst billions. EVERYONE has a relatively unique genetic makeup, and yet how many of us don't age? the answer seems to be "one."

    • Except they say her endocrine system seems to be running normally, which would, so far as I can tell, mean the hypothalamus was unaffected by the stroke. I'm sure that the effects of the stroke was probably one of the first things they checked.

      • by tnk1 (899206)

        Well, it is running normally for whatever apparent age she is. Obviously, if her endocrine system was working as expected, she'd have grown up, since that's what causes you to grow up.

        There may well be another brain function involved which is a lot less obvious or doesn't even look like damage because we don't know what we are looking at.

        However, yes, it's not going to be something that we are just going to be able to guess at here, but the brain is still a long way from being fully understood.

      • Except that we have relatively crude ways of measuring hypothalamic (or for that matter, any endocrine) function. It may very well be a regulatory molecule that we don't know about and can't measure. Hundreds of thousands of proteins, peptides and RNAs running about that likely do something - we just don't know what.

        • by Obfuscant (592200) on Wednesday January 16, 2013 @05:53PM (#42610219)

          It may very well be a regulatory molecule that we don't know about and can't measure.

          It may be due to molecules that are made up entirely of tachyons. Our normal aging is because there is a slight imbalance between our normal matter and tachyon physicality, leading to a slight shift towards what we view as "positive time".

          Her condition comes from an almost exact balance between the two, thus a competition between normal matter aging in the normal direction and the FTL matter aging in reverse.

          The Orkans (Mork and Mearth being the earthbound representatives) have the balance the other way, thus they age backwards.

          It's all easy if you know science.

    • Why would you think those injuries to the brain, which pretty much has no effect on the progress of development, would affect the progress of her development?

    • I would guess they are looking into that, but I'd also guess she's not really unique as far as that goes. Sadly, lots of kids get brain damage, strokes, and comas, yet only about 6 people that we know of have stopped developing in a similar way. Also, they've already found mutations and validated it in induced pluripotent stem cells, according to the article. So I think it is probably genetics.
    • by MiniMike (234881)

      From TFA:

      Her bones are that of a 10-year-old, her teeth are 6-years-old, her brain is less than a year old, Walker said.

      If her brain age is any indicator, it seems the aging anomaly began earlier than 4 years old and the stroke/coma/tumor is not the cause of the lack of aging. It also seems that aging stopped at different times for different areas, not all at the same time.

  • Bioshock? (Score:3, Funny)

    by spiritplumber (1944222) on Wednesday January 16, 2013 @03:41PM (#42608263) Homepage
    Looks like she's actually not aging, and has some sort of ability to remove tumors. Is she being stalked by a giant in a diving suit?
  • The syndrome description as given is remarkably like Cretinism. Cretinism typically results from insufficient iodine levels in the diet during early childhood. This person may have mutation(s) which mimic the damage caused in Cretinism.
  • Pretty sad that the focus of the article and medical attention seemed to be on using her genes for anti-ageing cosmetic treatments instead of curing her. I also found it at bit odd that she is shown in a pram (instead of say an adult wheelchair) and there is a baby cot in the background, these do not seem age appropriate, despite her lack of physical growth.

    • by anagama (611277) <obamaisaneocon@nothingchanged.org> on Wednesday January 16, 2013 @03:50PM (#42608387) Homepage

      Right. Some tight skinny jeans and a bottle of vodka ... well, I suppose they should wait till she turns 21 for the vodka.

      In all seriousness, if she has the mental age of a 5 year old, she is probably quite content being treated as one, and it would be highly innappropriate to treat her as older than she "really" is.

    • Curing how? Rewriting a person's genome is no trivial matter. It's tricky enough in a single cell, to do it in a complex multicellular organism is far beyond current ability.

      If her genes contain the secret to prolonging life and defeating the curses of old age though, they must be used. She may not hold the secret to immortality, but she puts us all one step closer.

      • by AK Marc (707885)
        Why would you re-write the genome? Find out what the deficiency is, hormonal or whatever, then give her the hormone her body is not. Knowing how to trigger it, or what caused it may allow for freezing aging at a specific age (everyone lives full lives looking 25), but curing her should be as simple as figuring out what her body is doing differently and chemically fixing it.
    • by hawguy (1600213)

      Pretty sad that the focus of the article and medical attention seemed to be on using her genes for anti-ageing cosmetic treatments instead of curing her.

      I think you're minimizing the research potential -- a way to slow or stop aging entirely, not just a mere cosmetic improvement.

      The hard thing about developing a treatment for a disease that no one understands and only a single person has is that there's no real way to test the treatment except on the subject herself, and if you screw it up, that person suffers for no reason since the treatment isn't going to help the rest of the people with the disease. Is it worse to let her live out her life the way she w

    • by pmsr (560617)

      They mention, and I quote, potential therapy to "Alzheimer’s, heart disease or cancer". I barely noticed any focus on anti-ageing cosmetic treatments, but then again, I RTFA. So, stop shoving your narrow view of the world and science into everything.

    • by alexmipego (903944) on Wednesday January 16, 2013 @04:16PM (#42608769) Homepage

      Those researchers can't exactly get funding to cure a single patient that's literally unique with a syndrome that most likely never happened or will happen again.

      However, if you say she might have the key for the cure of cancer and to stop aging they sure will get funded fast. If by some miracle they find a possible cure in the process, there's a chance that she might get that cure where otherwise the chance is a fat zero.

    • by gstoddart (321705)

      I also found it at bit odd that she is shown in a pram (instead of say an adult wheelchair)

      Well, adult wheelchairs are adult sized. If she's the size of a 4 or 5 year old, she definitely won't fit (and TFA shows her in a wheel chair, not what I'd call a pram).

      As to your other point:

      Unfortunately any gained insights would not be able to treat her condition, but it is hoped that identifying the genetic abnormalities could lead to new treatments for other diseases.

      I think you can safely assume the doctors ar

    • by Ionized (170001)

      actually they are quite appropriate - the article indicates that she has the mental capacity of a five year old as well. So it's not unreasonable to think that her parents are simply keeping her surroundings the same to match her physical and emotional maturity level.

  • Epigenetics (Score:5, Interesting)

    by jbeaupre (752124) on Wednesday January 16, 2013 @03:54PM (#42608439)

    Unfortunately, just analyzing genes might not be enough. Gene expression and epigenetics are the other half of the puzzle, and a bit more difficult to discover. Even if you know the code, it's damn difficult to determine where in the body (if anywhere) the code is or isn't active without taking samples all over the place and testing each.

    For the computer literate, think of it this way. The researches are disassembling the code of several people to see if there is a difference. But that doesn't tell them what the run time parameters were when a particular bit of code was run (or what inputs it may have had while running). And sampling a memory dump from one CPU in a massively parallel system doesn't give you the whole story either.

    Needle meets haystack.

  • Just because someone isn't developing doesn't neccessarily mean they aren't aging.

    She may be accumulating some of the various types of damage that we all undergo as part of aging, but just not progressing in maturing to an adult state.

    When a child develops from the reproductive cells of the parents effectively all or nearly all of the changes of aging present in the parents are undone. Brooke's genetic makeup may only be blocking SOME of those aging related changes along with blocking maturation.

    As time goe

  • I wonder how gene damage and telomeres will play into the story of this person's aging.

  • by l0ungeb0y (442022) on Wednesday January 16, 2013 @04:03PM (#42608575) Homepage Journal

    The kid's the product of a tranya fueled dalliance by her mom after a night out with Balok on his spaceship.

  • Jeffty is five [wikipedia.org] too. Maybe in her TV you could see the 25th season of Star Trek TNG.
  • She is growing (Score:4, Interesting)

    by Jmc23 (2353706) on Wednesday January 16, 2013 @04:07PM (#42608629) Journal
    Just not all at the same time. Her left eye is not the eye of a five year old.
  • Maybe she's Wolverine, and her immune system is attacking aging as an illness, but it kicked in at age 5 instead of adulthood.
  • Katie Couric is afflicted with soft focus syndrome. It also affects Diane Sawyer. She takes a personal interest in this since thye may be able to find a cure.

  • She regenerates, but the regeneration harms her mind and growth rate. She's Deadpool if Deadpool got his powers as a toddler. Hmmm, he has "comic awareness".. I wonder if she knows if this universe is a simulation or not.
  • by Nyh (55741) on Wednesday January 16, 2013 @04:38PM (#42609081)

    She decided never to grow up when she heard her father declare that she would become a grocer.

    Nyh

  • by Ritchie70 (860516) on Thursday January 17, 2013 @01:00AM (#42613867) Journal

    She's infant sized.

    Wikipedia says she's 30 inches tall, 16 pounds.

    My almost nine month old daughter is 26 pounds, around 30 inches. That's like 99th percentile in size, but still infant sized.

    An average 5 year old is 40 inches, 40 pounds.

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