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Researchers Study Mystery of the Toddler Who Won't Grow

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."

71 of 252 comments (clear)

  1. 4chan by Anonymous Coward · · Score: 5, Funny

    4chan is going to love this one.

    1. Re:4chan by Anonymous Coward · · Score: 4, Funny

      Unless I missed it, there's no indication that she mentally progressed past 5 years old. That might complicate her legality, and I can't believe I'm discussing this.

    2. Re:4chan by cod3r_ · · Score: 5, Funny

      You should be more concerned that you even caught what he meant.

    3. Re:4chan by erroneus · · Score: 2

      Not sure what you are talking about exactly... ... so ToGTFO and Pics or it didn't happen.

    4. Re:4chan by 93+Escort+Wagon · · Score: 5, Funny

      4chan is going to love this one.

      A 20-year-old with the mental makeup of a 5-year-old? I'm guessing she'd fit right in on 4chan.

      --
      #DeleteChrome
    5. Re:4chan by Anonymous Coward · · Score: 2, Insightful

      Erm, we might want to forego the usual procedure on this one

    6. Re:4chan by Anonymous Coward · · Score: 5, Funny

      However, it does mean she'll fit right in with the rest of the 4chan posters.

  2. think of the possible implications! by queazocotal · · Score: 4, Funny

    Perpetual kittens.

    1. Re:think of the possible implications! by nephilimsd · · Score: 4, Interesting

      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?

    2. Re:think of the possible implications! by wonkey_monkey · · Score: 4, Insightful

      !growing != !aging

      --
      systemd is Roko's Basilisk.
    3. Re:think of the possible implications! by MightyMartian · · Score: 5, Interesting

      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?

      --
      The world's burning. Moped Jesus spotted on I50. Details at 11.
    4. Re:think of the possible implications! by crazyjj · · Score: 3, Funny

      Perpetual kittens.

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

      --
      What political party do you join when you don't like Bible-thumpers *or* hippies?
    5. Re:think of the possible implications! by Baloroth · · Score: 5, Informative

      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 study, her telomeres match her chronological age, so she appears to be aging in that sense.

      --
      "None can love freedom heartily, but good men; the rest love not freedom, but license." --John Milton
    6. Re:think of the possible implications! by Nadaka · · Score: 2

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

    7. Re:think of the possible implications! by deesine · · Score: 5, Informative

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

      --
      damaged by dogma
    8. Re:think of the possible implications! by MightyMartian · · Score: 2

      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.

      --
      The world's burning. Moped Jesus spotted on I50. Details at 11.
    9. Re:think of the possible implications! by Rhacman · · Score: 2

      My greatest fear would be biological immortality coupled with the inability to take my own life if and when I should so choose. Could you imagine if a person like this was born into some fanatic religious sect? She'd be seen as some sort of diety or messenger from god.

      --
      Account -> Discussions -> Disable Sigs
    10. Re:think of the possible implications! by GameboyRMH · · Score: 4, Insightful

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

      --
      "When information is power, privacy is freedom" - Jah-Wren Ryel
    11. Re:think of the possible implications! by Iamthecheese · · Score: 3, Interesting

      Strongly disagree. There are many people emotionally invested in accepting death but a cure to aging can't come soon enough.

      --
      If video games influenced behavior the Pac Man generation would be eating pills and running away from their problems.
    12. Re:think of the possible implications! by GameboyRMH · · Score: 5, Insightful

      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?

      --
      "When information is power, privacy is freedom" - Jah-Wren Ryel
    13. Re:think of the possible implications! by Bucc5062 · · Score: 3, Insightful

      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.

      --
      Life is a great ride, the vehicle doesn't matter
    14. Re:think of the possible implications! by Macgrrl · · Score: 2, Insightful

      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.

      --
      Sara
      Designer, Gamer, Macgrrl in an XP World
    15. Re:think of the possible implications! by wonkey_monkey · · Score: 5, Funny

      You're code must be awesome to look at.

      It's easier to read than your prose ;)

      --
      systemd is Roko's Basilisk.
    16. Re:think of the possible implications! by wonkey_monkey · · Score: 2

      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.

      --
      systemd is Roko's Basilisk.
    17. Re:think of the possible implications! by bikin · · Score: 5, Funny

      Not possible; Atomic Theory would have triggered the Modern Age, and besides Riflemen are enough to kick Spearmen ass.

    18. Re:think of the possible implications! by GameboyRMH · · Score: 5, Insightful

      I thought about that, but it assumes that an increase in lifespan would lead to an increase in long-term thinking. Many people already think too short-term for their immediate situation, never mind a currently-possible human lifespan.

      --
      "When information is power, privacy is freedom" - Jah-Wren Ryel
    19. Re:think of the possible implications! by killfixx · · Score: 2

      It would take a few generations of births without deaths before we came to understand this new-found sense of environmental responsibility.

      We haven't figured out what we're doing after how many millennia, what makes you think the first generation to become immortal would instantly come to this realization.

      --
      "Helping to keep you two steps ahead of the Thought Police!"
    20. Re:think of the possible implications! by kelemvor4 · · Score: 2

      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.

    21. Re:think of the possible implications! by MachDelta · · Score: 5, Funny

      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).

    22. Re:think of the possible implications! by peragrin · · Score: 2

      So somebody cloned her with temporal RNA and screwed it up?

      Does Jean Luc Picard know?

      --
      i thought once I was found, but it was only a dream.
    23. Re:think of the possible implications! by GameboyRMH · · Score: 2

      We're also living in a veritable gilded age, inequality is worse than the first gilded age, possibly worse than ever before in history.

      Many alternatives haven't been tried before, some aren't possible yet. Capitalism is the economic equivalent of savagery, it's just survival of the fittest. Advocate survival of the physically fittest and anyone will recognize it as savagery, advocate survival of the economically fittest and many see it as enlightened somehow. I think we can do better.

      --
      "When information is power, privacy is freedom" - Jah-Wren Ryel
    24. Re:think of the possible implications! by tacokill · · Score: 2

      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".

    25. Re:think of the possible implications! by tragedy · · Score: 2

      Some parts still grow. Cartilaginous structures like ears and noses are the main example. Fat cells also tend to stop growing in number, but can certainly grow in size.

    26. Re:think of the possible implications! by chrismcb · · Score: 2

      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.

    27. Re:think of the possible implications! by DavidClarkeHR · · Score: 2

      It's not in the summary or article, but wikipedia 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.

      --
      - Nec Impar Pluribus, or so I'm told.
    28. Re:think of the possible implications! by Electricity+Likes+Me · · Score: 2

      I doubt it would be as hellish as you make it out to be. I for one would love the opportunity to enjoy a severely long life. Unfortunately I seem to be in the majority here. It's frustrating because so many people seem to think it's such a horrible thing I fear progress is going far too slow to achieve any kind of immortality in my life time.

      There's emotional benefit to trying to think it would be a bad thing - because presently it's impossible.

      See the number of stories which end with someone deciding they don't want the immortality cure and being happy about that, but then if you simply read about the events of the immortals over just long time spans they live interesting lives. Given that the mean time to a fatality by accident is something like 240 years, and it's not like it would be that big of a change - we have people who live to 100 pretty regularly.

  3. Obligatory Star Trek reference by Anonymous Coward · · Score: 3, Funny

    The Grups are studying her intensely.

    BANG BANG

  4. brain damage? by pezpunk · · Score: 4, Interesting

    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.

    --
    i could live a little longer in this prison
    1. Re:brain damage? by K.+S.+Kyosuke · · Score: 2, Insightful

      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".)

      --
      Ezekiel 23:20
    2. Re:brain damage? by MightyMartian · · Score: 2

      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.

      --
      The world's burning. Moped Jesus spotted on I50. Details at 11.
    3. Re:brain damage? by sjames · · Score: 4, Insightful

      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.

    4. Re:brain damage? by Obfuscant · · Score: 3, Insightful

      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.

    5. Re:brain damage? by Obfuscant · · Score: 3, Funny

      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.

    6. Re:brain damage? by MiniMike · · Score: 2

      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.

  5. Re:Mental appearance? by Dzimas · · Score: 5, Informative

    Originally a term used in Jungian psychology to describe how one presents their consciousness (persona/image/self) to the outside world. In this context, it indicates that Brooke responds to the world in a manner appropriate for a 5-year-old.

  6. Bioshock? by spiritplumber · · Score: 3, Funny

    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?

    --
    Liberty - Security - Laziness - Pick any two.
    1. Re:Bioshock? by Jhon · · Score: 4, Informative

      I seem to remember reading an article about her a few years ago. IIRC, her telomeres are shortening at a normal rate -- which would suggest she *IS* aging at that level.

    2. Re:Bioshock? by 93+Escort+Wagon · · Score: 3, Interesting

      Or Cowboy Bebop's "Sympathy for the Devil".

      --
      #DeleteChrome
  7. Re:Human not freak show by anagama · · Score: 4, Insightful

    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.

    --
    What changed under Obama? Nothing Good
  8. Wouldn't They See That in the Endocrine System? by eldavojohn · · Score: 5, Insightful

    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 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.

    --
    My work here is dung.
    1. Re:Wouldn't They See That in the Endocrine System? by Anonymous Coward · · Score: 3, Funny

      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.

    2. Re:Wouldn't They See That in the Endocrine System? by Cyberax · · Score: 5, Informative

      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.

  9. Epigenetics by jbeaupre · · Score: 4, Interesting

    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.

    --
    The world is made by those who show up for the job.
    1. Re:Epigenetics by CMYKjunkie · · Score: 2

      It sounds like they have a small problem on their hands!

    2. Re:Epigenetics by thePowerOfGrayskull · · Score: 3, Funny

      It sounds like they have a small problem on their hands!

      I'll bet you're real fun at parties.

    3. Re:Epigenetics by Iron+(III)+Chloride · · Score: 2

      This keeps on getting repeated so as a biology grad student I feel the obligation to inform everyone: yes, epigenetics is very important and makes up much of the story, but while a lot about it is still unknown, we have just as many tools to tackle it as we do with genomic DNA. We can sequence the epigenome (both histone marks and DNA CpG methylation), the transcriptome, the translatome, and the proteome (by mass spec, though not de novo) - almost any "ome" that involves any combination of nucleic acids and proteins can be probably sequenced and profiled by technology that we have today. The only thing that we probably can't easily do yet is metabolomics, because small molecules are not built out of well-understood monomeric units, but I bet there are tens if not hundreds of labs around the world working on this kind of technology as we speak.

      My point is, the explosion in sequencing technology that have occurred in the 10 years since the completion of the human genome have put us solidly in the "post-genomics" era. The technologies to find the needle in the haystack exist in the here and now - the only real constraints are time, manpower (brainpower?), sample availability, and (to some extent) cost, in the sense that you need to not be in the bottom 30% of labs in terms of your funding situation in order to have enough money to be able to use these technologies. Brooke is human so there will be limitations in terms of what kinds of samples we can take without harming her health, but the people working on this will be able learn a lot from her genome (and her epigenome, transcriptome, and so on and so forth) and then they will be able to find those mutant candidate genes and make mouse or Drosophila models so that we can get a really detailed understanding of what is going on at the mechanistic level, and in those model organisms we can then whatever we want in order to get whatever types of data we need.

      A reference for those who haven't seen it yet: http://www.genome.gov/sequencingcosts/

      --
      Cogito, ergo sum, fosho!
  10. Re:Mental appearance? by Anonymous Coward · · Score: 5, Funny

    opp opp OPPAN JUNGIAN STYLE

  11. Re:Perpetual diaper changes by h4rr4r · · Score: 4, Funny

    A normal five year old can use the toilet. Not everyone developed as slowly as you.

  12. Re:Human not freak show by pmsr · · Score: 2

    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.

  13. Balok's Love-Child by l0ungeb0y · · Score: 4, Funny

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

  14. She is growing by Jmc23 · · Score: 3, Interesting

    Just not all at the same time. Her left eye is not the eye of a five year old.

    --
    Don't complain about syntax, grammar, or spelling. There is no.hell like input on android.
  15. Re:interesting. by Elder+Entropist · · Score: 3, Informative

    Insufficient iodine levels cause Cretinism by causing the thyroid to not produce sufficient growth hormones. Since the article states her hormones are normal...

  16. Re:Human not freak show by alexmipego · · Score: 3, Insightful

    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.

  17. Re:Mental appearance? by GameboyRMH · · Score: 5, Funny

    Heeeeeeey psych. class ladies!

    --
    "When information is power, privacy is freedom" - Jah-Wren Ryel
  18. Her own decision? by Nyh · · Score: 2

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

    Nyh

  19. Re:Human not freak show by Zordak · · Score: 4, Funny

    Since when do 5 year olds nap? Mine (apparently) runs on a fission generator in overdrive from 7:00 a.m. to about 10:00 p.m.

    --

    Today's Sesame Street was brought to you by the number e.
  20. Re:Human not freak show by tilante · · Score: 2

    Five year olds take naps for the same reason teenagers wear sweaters: because mom needs a nap/sweater, so by God, you need one too.

  21. Re:Human not freak show by rsborg · · Score: 2

    Since when do 5 year olds nap? Mine (apparently) runs on a fission generator in overdrive from 7:00 a.m. to about 10:00 p.m.

    My 6yo still naps. I think everyone should nap if at all possible - it's quite healthy to take a siesta [1]. The problem is that the modern world makes you feel like you're not worth as much if you're not "aware and contributing" 16+ hours of the day. The question is, if you took 30-45m "off", would the remaining time be more productive?

    [1] http://www.siestaawareness.org/pages/siesta-facts.php

    --
    Make sure everyone's vote counts: Verified Voting
  22. Re:Mental appearance? by Anonymous Coward · · Score: 2, Funny

    *cowboy hero-archetype dance*

  23. Re:Don't rule out the other symptoms by Cyberax · · Score: 2

    Quite possible. But hormones are definitely not the problem here - her endocrine system is normal. Besides, lack of growth hormone or response to the growth hormone has wildly different symptoms (they are not pretty) while this girl is basically a normal toddler without major deformities.

    Oh, and we'll be sequencing her whole DNA (hopefully in a few months) now that there is enough funding for this.

  24. She's not toddler sized by Ritchie70 · · Score: 2

    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.

    --
    The preferred solution is to not have a problem.