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Communities of Mutants Form as DNA Testing Grows 161

Posted by Zonk from the okay-yeah-that's-kinda-strange dept.
GeneRegulator writes "The NY Times is running a story on communities that are forming around kids with rare genetic mutations. New technology that can scan chromosomes for small errors is being applied first to children with autism and other 'unexplained developmental delays.' It turns out that many of them have small deletions or duplications of DNA. Meanwhile, hundreds of little groups are forming around the banner of their children's shared mutations. As new research shows that many of us have small deletions and duplications of DNA that separate us from our parents, and that many of these "copy number variants" contribute to skills and senses, the families described in the story may presage the formation of all sorts of 'communities of the genetically rare' in the general population, not just amongst the developmentally delayed."
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Communities of Mutants Form as DNA Testing Grows More

Communities of Mutants Form as DNA Testing Grows

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  • Finally! (Score:5, Funny)

    by MightyYar ( 622222 ) on Saturday December 29, 2007 @02:32PM (#21850510)
    Finally I'll be able to find others with an abnormally small penis!

    Prior to this I had been hanging around sports car dealerships.

    • Re:Finally! (Score:5, Funny)

      by Daniel Dvorkin ( 106857 ) on Saturday December 29, 2007 @02:57PM (#21850708) Homepage Journal
      Finally I'll be able to find others with an abnormally small penis!

      Prior to this I had been hanging around sports car dealerships.

      Well, that explains why you haven't been able to find others of your kind. Your information is sadly out of date. The micropenis crowd is found in the SUV section these days. If you want to meet some folks who will make you feel like Ron Jeremy by comparison, try a Hummer dealership.

      Me, I'll be outside working on my Toyota Corolla.
    • I've never really understood this sort of thing, it's really a lame joke at best.

      If you had completely "ordinary" interests and had no interest in anything that's different, does that mean you have a really big unit? It just seems like this sort of joke is part of a semi-conscious attempt to homogenize people by mocking others that happen to like or own unusual things.

      • Re: (Score:3, Insightful)

        by MightyYar ( 622222 )
        Jesus Christ, man. I make a joke at my own expense! Don't get so bent out of shape just because you're into collecting phallic symbols! If you were Bart Simpson, I'd have you write "It was just a silly joke." on the blackboard.

        Besides, there's liking unusual things, and then there's spending hundreds of thousands of dollars extra to get 1 extra knot out of a boat... and then you weigh it down with a full kitchen and bedroom. Or getting a really, really fast race-caliber sports car... and then ordering power

        • Re: (Score:2)

          by d3ac0n ( 715594 )

          If you were Bart Simpson, I'd have you write "It was just a silly joke." on the blackboard.


          Ok, so if he's Bart Simpson, I guess that would make you Principal Skinner, the guy that still lives at home with his mother? ;)

  • Comment removed (Score:5, Interesting)

    by account_deleted ( 4530225 ) on Saturday December 29, 2007 @02:34PM (#21850520)
    Comment removed based on user account deletion

    • Re:Handedness (Score:4, Informative)

      by thewiz ( 24994 ) * on Saturday December 29, 2007 @03:14PM (#21850860)
      Actually, a random mutation would be more like myself and my wife. We both have "disabilities" that, as far as the doctors can tell, are from random mutations. My wife has achondroplasia http://en.wikipedia.org/wiki/Dwarfism [wikipedia.org] and no one else in her family (ancestors included) had dwarfism. The congenital heart defect I was born with is normally caused by the mother having scarlet fever when pregnant and my mother never contracted the disease.

      • Re: (Score:3, Interesting)

        by hedwards ( 940851 )
        I think that it really depends what the mutation is whether or not this is a good idea. When it comes to dwarfism, that makes some degree of sense in that the community can be scaled appropriately for people of that size.

        But in general I think that this is a really, really bad idea. Segregation by religion really worked out well for pre WWII Jews in Europe. Sure that's probably about the worst that it can be, but it is still a good reason to consider whether this kind of thing is a good idea. I personally h

    • I've often heard left-handedness attributed to development conditions in the womb, but is it suspected to be one of these random DNA mutations, or to some higher-level effect on the brain?

      I think that the genetic origin of handedness is greatly exaggerated.

      I used to hate being asked if I was right or left handed as a child. I'm not. I use both hands, you weird adults.
      Of course, I was taught to use only the right hand to write, so I'm right handed, but I often get "oh, you're left handed?" comments from people who see me use my left hand for mundane tasks (grabbing a folder on a desk at work, or holding a fork).

      • I think that the genetic origin of handedness is greatly exaggerated.

        After I started to develop RSI in my right hand I switched my mouse to the left which helped a lot. Since then I have found that I can do most things with my left and that I don't really have a strong right handed bias.

        But I have noticed that my brother's three year old son is very strongly right handed. Much more so than my son or myself. I just don't know if this is caused by genetics or learned behaviour.

        • Re: (Score:2)

          by fluxrad ( 125130 )
          In my experience, most righties are strongly right handed like your nephew. You'll notice a much greater level of ambidextrous behavior in left handed people - generally this is because they were given free reign to figure out which hand they preferred for every-day tasks. Usually, the test is this: ask someone who's right handed to write a sentence with their left. Now do the opposite with a lefty. You'll find that the lefty can generally write far more legibly with their right hand than said righty with t
          • So far as the brain is concerned, handedness is pretty structural, I think. I mean, you are talking about the dominant hemisphere after all. That's not something you just switch back and forth.

            Left-handedness runs in my family, has for generations. I am, my father was, my grandfather was (on both sides) although I'm the only lefty in my generation. It's not something you pick: it's intrinsic. As you correctly point out, attempts to "convert" left-handed people into righties not only do not work, but caus

            • Re: (Score:3, Insightful)

              by timmarhy ( 659436 )
              why would there be social stigma with being left handed? it's been several 100 years since we gave up wiping our assholes with our left hand, so it's not a hygene factor.

              i grew up with a few lefties as friends and they never received any flack for it, if anything it made them feel a bit special.

              was the 50's in america THAT fucked up?

              • Re: (Score:3, Insightful)

                by ScrewMaster ( 602015 )
                Yes, although it was worse a few decades before. But I'm not just talking about America. Anti-left-hand bias is not uncommon in some parts of the world, I mean, just because we got over it doesn't mean that other peoples have. My girlfriend, for example, is a left-handed North African, and during her early childhood there was an ongoing battle between her parents as to whether she should be allowed to use her left hand to write. Her mother felt that there was something "wrong" with left-handedness, and did

              • Re: (Score:2)

                by 0racle ( 667029 )
                Left-handedness is evil. It's a sign of the devil.
              • As a leftie, I wipe my arse with my right hand - it seems more logical to use the hand that does least for such a mundane task.

                And as an Asperger's person married to another Asperger's person, with an autistic stepson and his Asperger's twin, there's a lot of it about in my family!

              • "was the 50's in america THAT fucked up?"

                Don't know about the US but in Australia in the 60's a child who wrote with their left hand was either "lazy" or "not being taught correctly" but I think this had more to do with fountain pens than toilet paper.
          • "You'll find that the lefty can generally write far more legibly with their right hand than said righty with their left."

            Perhaps because the lefties have already tried it many times when learning to write, I have never heard anyone say "No Timmy, use your left hand".

            • Re: (Score:2)

              by fluxrad ( 125130 )
              Perhaps because the lefties have already tried it many times when learning to write

              I don't think that's necessarily true. I never tried actually writing for content with my right hand, even when I was learning to write the alphabet. I've always been a lefty. I was just always able to write pretty well with my right hand for whatever reason. Perhaps it's because, when learning to write, I had to visualize how to do what everyone else was doing with their right hand with my left.

              I have never heard anyone say

  • That's all well and good ... (Score:5, Funny)

    by ScrewMaster ( 602015 ) on Saturday December 29, 2007 @02:45PM (#21850606)
    the families described in the story may presage the formation of all sorts of 'communities of the genetically rare' in the general population

    They may not fare so well in the Great Collapse of 2017 (mark my words ... I pick a different year every time so I will be right.) In any post-Apocalyptic environment, everyone knows that those who are "different" are invariably put to death, unless they have some supra-normal power(s) that they can use to defend themselves and rule over the remaining survivors.

    • Re:That's all well and good ... (Score:5, Funny)

      by rant64 ( 1148751 ) on Saturday December 29, 2007 @03:11PM (#21850846)
      Mutation is behind the entire concept of evolution. Sometimes, genetic mutation will drive you bald or limp. Then you die. Sometimes, genetic mutation will cause a newborn to be blessed with +1 CHA or +1 INT. Those are the specimen that thrive.

    • Re:That's all well and good ... (Score:4, Insightful)

      by mrmeval ( 662166 ) <jcmeval.yahoo@com> on Saturday December 29, 2007 @04:05PM (#21851188) Journal
      I know you're joking but most will just die because their protected environment went away.
      How many will die if insulin were just not available? A friend needs ranitidine to survive, without it he'd be dead within a short period of time. Turn off the civilization switch and you'll lose a huge percentage. It really doesn't take much to turn it off either. :(

      • No kidding ... the great weakness of civilization (at least at our current stage of development) is its essential fragility. It would be hard to wipe out the human race entirely (short of nuclear winter or some engineered pathogen) but civilization can be destroyed very easily. And given that we've consumed most of the readily-available mineral resources, if there is a major worldwide collapse odds are we won't be climbing back.
        • Civilization might return by making use of different resources. Also, even if civilization is destroyed, the accumulated knowledge it has built up would likely be more difficult to destroy (and thus civilization could possibly return more quickly). For example, the Aztecs did pretty well prior to their conquest by the Europeans considering that their technology was technically stone-age.
          • True, but more and more of that knowledge is becoming enshrined in storage systems readable only to a technology at least equivalent to our own (and maybe not even then, as encryption becomes more and more prevalent.) I used to think that, well, even if a new Dark Age comes to pass, at least we'll have all the information in the thousands of libraries around the world to help us out of it. The problem is, less and less is being published in paper form every year, more and more is being distributed electroni

            • Re: (Score:2)

              by d3ac0n ( 715594 )
              True,

              But most everything prior to the last 30 years is well enshrined in paper. I would say being able to quickly build civilization back to a 1980's level would be pretty darn good. Heck, even back to a 1950's level would be more than acceptable. Yes, we wouldn't have computers as we now know them, but we would re-develop them rather quickly.

              There are also several efforts to preserve knowledge in a non-perishable format by several Libraries around the world. I remember reading about some of them, possib
              • Well, I'm hardly going to say you're wrong, and I certainly hope you're right. Let's hope that we never have find out. Much as I enjoy the occasional end-of-the-World-as-we-know-it novel or motion picture, I can't say as I'd want to live in one.
        • I don't know, Moties seemed to do it at regular intervals. Just have to build a few robust museums to shorten the Dark Ages. An Encyclopedia Galactica might help there as well.

      • I know you're joking but most will just die because their protected environment went away.
        How many will die if insulin were just not available? A friend needs ranitidine to survive, without it he'd be dead within a short period of time. Turn off the civilization switch and you'll lose a huge percentage.

        Of course, if the protected environment of current civilization were to be taken away, most of the perfectly healthy people would also perish. Not only are there many times more of us than hunter-gathere

  • Rare != good (Score:2, Interesting)

    by Anonymous Coward
    Parents are forming communities around their disabled children, and there is no scientific evidence linking the causes of disabilities cited in the article to anything beneficial to life in human society.

    I won't help these parents foster an aura of chicness around useless and/or harmful mutations. It's selfish and fundamentally wrong, and the next step - as forwarded by these selfsame groups - is "designer disabled" babies.

    I don't support creating children with blindness or autism any more than I support cr

    • Re: (Score:2, Insightful)

      by timpaton ( 748607 )

      I won't help these parents foster an aura of chicness around useless and/or harmful mutations.

      Who the hell is talking about an aura of chicness?! Have you ever heard of the concept of a support community?

      Where does one even start looking for medical information specific to a child with genetic defects? Many of these conditions are rare to the point that there is absolutely zero published research on them.

      You don't go to your local library and pick up a book about the gastrointestinal peculiarities of c

  • save the world

  • This isn't anything new (Score:5, Interesting)

    by DebateG ( 1001165 ) on Saturday December 29, 2007 @02:57PM (#21850702)
    Support groups for families and children with rare diseases have been around for decades. Whether someone in your family has Rett sydnrome [rettsyndrome.org], Glanzmann's thrombasthenia [glanzmanns.com], or Schwachman Diamond Syndrome [shwachman-diamond.org], you can find other people who are in a similar situation. There interesting thing here is that doctors are identifying new chromosomal abnormalities and sub-classifying people whose diseases were previously under an umbrella of ambiguous terms such as "autism." This is a good thing, because these diseases are most certainly heterogeneous at the molecular level and probably manifest themselves in subtlety different ways that aren't obvious when there are only four or five cases ever described. Unfortunately, the treatments for them rarely takes into account the underlying genetic cause, and advocacy and support groups such as these can better inform doctors and researchers about these rare diseases.

  • Vive la difference - we all carry lethal alleles (Score:4, Informative)

    by dstates ( 629350 ) on Saturday December 29, 2007 @03:11PM (#21850842) Homepage
    Another name for these microdeletions is copy number variation [sanger.ac.uk], a normal form of variation in the human genome. There is also a fundamental concept in population genetics called genetic load [wikipedia.org] which are recessive lethal alleles present in any population as a result of new mutations and limited selection against rare recessive alleles. Just be glad we are not all the same because then a single bad virus like the 1918 influenza could wipe us all out. Besides life would be so boring.
  • . . . runs out of school for exceptional children on Long Island. Place, as I recall, is called Xavier's Academy. . . .

  • Branching of the species? (Score:4, Interesting)

    by Original Replica ( 908688 ) on Saturday December 29, 2007 @03:22PM (#21850920) Journal
    So if "the genetically rare" for their own communities they will inevitably forge their own traditions and standards. ie: a different standard of beauty "There was no missing the similarities: the flat bridge of their noses, the thin lips, the fold near the corner of their eyes" or different etiquette "If one of his siblings is sitting at his place at the breakfast table, Jackson screams. If a schoolmate gets too close to him, Jackson screams. If someone interrupts him while he is speaking, Jackson screams." So this community is well on it's way to being a separate culture. That's fine, perhaps even wonderful. I'm curious about the long term. This new culture, being originally based around genetic differences, will carry these differences from generation to generation. People want children who carry on their traits and culture, if that includes a standard of beauty that is inline with the facial structure and body size of Primordial Dwarfism, then it would make sense that they would want their children to be Primordial Dwarves. I'm wondering at what point of maintaining a consistent genetic difference would that culture become a parallel species in the way that Homo Erectus and Homo Ergaster lived side by side.

    I hope that no one takes offense at my ponderings. I do not mean to suggest that anyone born with a genetic difference is less than human. I am simply wondering if and when those differences will become self sustaining and a primary characteristic within a newly forming culture and if that would require a new scientific classification. Humanity is more than just genetics.

    • Re: (Score:2)

      by JustNiz ( 692889 )
      As a parent, it sounds like Jackson is just another spoiled little brat, and he's acting that way because he has bad parents, not because of any genetic difference.
      • it sounds like Jackson is just another spoiled little brat

        Just like my ADD was "just lazy and undisciplined"?
        TFA didn't seem to mention the particular condition that Jackson has, but I know autistic kids that have some socially unwelcome reactions to seemingly minor things. I think it has to do with their perceptual differences, what seems important to them seems unimportant to us and vice versa. Where you think it is no big deal for Jackson to sit in a different chair, jackson may see a deep interrupti
        • These people are fools, but it will be amusing to see how their experiments work out.

        • Re:Branching of the species? (Score:4, Insightful)

          by servognome ( 738846 ) on Saturday December 29, 2007 @06:55PM (#21852332)

          Just like my ADD was "just lazy and undisciplined"?
          TFA didn't seem to mention the particular condition that Jackson has, but I know autistic kids that have some socially unwelcome reactions to seemingly minor things. I think it has to do with their perceptual differences, what seems important to them seems unimportant to us and vice versa.
          So what if there is a genetic "excuse." Most people have problems, and but are able to overcome them to integrate better into society.

          • Re: (Score:2, Insightful)

            by Anonymous Coward
            Forcing people to 'overcome' and 'integrate' better into society has caused a lot of heartache and pain for a lot of families. Suicide rates of developmental disorders, especially high-functional autism and neurological disorders that surface in mid-to-late teens are quite high -- while there are attempts at inclusion and accommodation in academic environments, running into uninformed individuals who assume that the patient is 'not trying hard enough' is incredibly discouraging. Not to mention parents who a

    • Re: (Score:2)

      by Aladrin ( 926209 )
      Note: I am not calling you, or anyone else, racist.

      I got through to "want their children to be Primordial Dwarves" and thought: How is this -any- different than racism? It's a genetic difference that basically means nothing. The only difference I see is that they are segregating themselves, instead of the majority doing the segregation. In the end, I predict a bunch of 'genetic difference X' minorities that suddenly want special rights simply because they are different.

      Newsflash: Everyone is different.
      • How is this -any- different than racism?

        The difference is you presumption of a negative connotation. If a person is proud of who they are, they may well want to pass as much of that along to their children as possible. That isn't racism, it's identity. My whole family has blue eyes. When I look as my nephews, I see their blue eyes and how they are so very similar to their father's and to mine. I wouldn't love them less if they had brown eyes, but I also wouldn't have that similarity/connection with them.
        • To suggest that a person wouldn't want their child to be like them would seem to be a deeper prejudice to me. Deaf parents are requesting deaf children after all. Once you remove the idea that these people are somehow "broken" it makes a lot of sense.

          But a person who is deaf is broken, objectively. They have a hearing impediment, a disability. And it's monstrous - an absolute barbarity, like the sexual abuse of a child - for a deaf person to deafen their child just so that it'll be "more like them."

          If a sol
        • You don't know if by selecting the blue-eyed prebabies you're also passing on some genetic disease (we can't detect all of them). The point of sexual reproduction is having diversity and trying to keep the nasty genes away from each other.

        • Re: (Score:2)

          by Aladrin ( 926209 )
          If you say the same thing about the children having white skin, it's racism.

          I never said these people were broken. I never even implied it. You assumed it.

          So again, tell me how this isn't like racism? When white people don't want their children to have anything but white children, that's racism. When 'DNA X' people (of whatever difference) want their children's children to have that same trait, that's just genetic pride?

  • genetically rare
    Uniqueness is very common. Almost everybody is!

  • (I already posted this, but I F-ed up the post title...)

    I am NOT a creationist; just wondering...

    It turns out that many of them have small deletions or duplications of DNA.

    I would call these new sequences of DNA, but, what about insertions? Shouldn't "new" nucleotides occasionally have been found as well?

    • Re: (Score:2)

      by tloh ( 451585 )

      I would call these new sequences of DNA...

      Be careful how you talk about these things. You run the risk of getting trapped in semantic gibberish. How do *you* intend to use this term, "new sequences of DNA"? Geneticist have developed very precise language to describe the features they encounter in the course of doing their research. I'm sure you have good intentions born out of genuine curiosity in voicing a comment. But to ask a meaningful question, on must try to converse with the same terminology.

      ...what about insertions?

      There exists a feature called a transpos [wikipedia.org]

      • ...then the answer is probably no.

        An exception to this is a type of mutation called a "point insertion". It is a type of mistake that can happen during DNA replication where one (very VERY rarely more than one) extra nucleotide gets shuffled into a sequence as it is being constructed from a parent template. This has an effect called a "frame shift". The way it normally works, the genetic code consists of 3-letter "words" that describe how to string together a bunch of amino acids to form the protein building block of life. A "frame s

  • Homo solus (Score:1, Interesting)

    by MellowTigger ( 633958 )
    Coincidentally, I have just in the last few weeks put up a webpage explaining my thoughts about autism as the trait list of a potential new species. Homo solus, solitary man.

    The human variant that I think is nearly ready for consideration as a new species is still too diverse, but the generalizations that can be made about them are highly suggestive. On average, in gross over-generalization, this group...

    • has a larger skull size than the typical form;
    • achieves its maximum skull size a full decade before t
    • Evolution requires that breeding populations exist in isolation for a long enough period of time that the groups diverge. A new species exists when individuals from the separated populations either cannot breed (cats and dogs) or, if they breed, produce only sterile offspring (horses and donkeys).

      Just because a group is genetically different, does NOT mean they can or will form a new species.

      What you suggest requires that individuals with autism breed ONLY with others having autism for, ohhhhh, a few milli

      • What you suggest requires that individuals with autism breed ONLY with others having autism for, ohhhhh, a few million years.
        Considering that he seemed to be talking about directed breeding, I'd say the timescale would be closer to that for domesticating animals - a few thousand generations, instead of a few hundred thousand. Of course, that would depend on a very particular mindset of the people involved.

        Other than that, you're right.

        • Good point; I missed the directed breeding bit (it all turned into blah blah after a few paragraphs) but I'm not sure I agree.

          We have many breeds of dogs and all of them can still interbreed so we have not seen speciation.

          Granted, breeding dogs has not been directed at creating new species and dogs have only been around for 15,000 years or so (http://en.wikipedia.org/wiki/Dog#Ancestry_and_history_of_domestication) so we may just be looking at an issue of improper focus and lack of time. It would be interest

  • Howard family? (Score:3, Funny)

    by Stiletto ( 12066 ) on Saturday December 29, 2007 @06:08PM (#21852058)
    So where's the Howard family's web site?

    • Re: (Score:2)

      by HiThere ( 15173 )
      Do you have eight living great-grandparents? If so, they may be contacting you. Otherwise...they're a bit...reclusive.

    • Re: (Score:2)

      by kent_eh ( 543303 )
      That's the first thing that popped into my mind when I read the summary.

      I wonder what Lazarus Long would have to say about this?
  • The movie Gattaca deals with the issue of profiling based on DNA. If you haven't seen it I highly recommend it. Does anyone else know of other movies that deal with DNA profiling?

    • Re: (Score:2)

      by tgd ( 2822 )
      I just watched a video this morning of a woman profiling DNA from what seemed like 20 guys, does that count?
  • Often, genetic anomalies are used by the simply mean to carry out their worst crimes. For example: blonde hair and blues eyes, which I have because of my Norwegian ancestory - I'm SO white - is a recessive gene similar to the recessive gene that makes seal point Siamese cats look the way they do. For some inexplicable reason a bunch of mostly dark haired and brown eyed people who called themselves NAZI wanted to be like me. WTF? They wanted it so bad they killed millions and did the most horrible things to
  • for years to get doctors to recognize my telekinesis as a real medical condition in need of treatment, but they all just mumble something about "ingrates" and "gifts" and send me away.

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