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Communities of Mutants Form as DNA Testing Grows 161

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

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  • Comment removed (Score:5, Interesting)

    by account_deleted ( 4530225 ) on Saturday December 29, 2007 @03:34PM (#21850520)
    Comment removed based on user account deletion
  • Re:Please help out (Score:5, Interesting)

    by The Ultimate Fartkno ( 756456 ) on Saturday December 29, 2007 @03:44PM (#21850598)
    Myminicity links should get ip-banned.

    Stealth myminicity links should have their ip published so nerds with free time and anger issues could track the poster down and punch them in the balls.
  • Rare != good (Score:2, Interesting)

    by Anonymous Coward on Saturday December 29, 2007 @03:49PM (#21850636)
    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 creating children with cancer or polio. Political correctness is fine to an extent when used diplomatically in politics, but the idea of "differently-abled" conditions being attractive is abhorrent.
  • by DebateG ( 1001165 ) on Saturday December 29, 2007 @03:57PM (#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.
  • by Original Replica ( 908688 ) on Saturday December 29, 2007 @04:22PM (#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.
  • by i.of.the.storm ( 907783 ) on Saturday December 29, 2007 @05:06PM (#21851198) Homepage
    Haha funny. Hmm, slashdot should have some sort of mini-moderation whereby you can mod people up by 0.01 if you don't have a modpoint, to increase the precision of moderation.
  • Re:Handedness (Score:3, Interesting)

    by hedwards ( 940851 ) on Saturday December 29, 2007 @06:28PM (#21851724)
    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 have very little confidence that as a species we've come far enough for it to work. I mean if you substitute German, Italian, or Japanese for Muslim, you have largely the same stuff happening again as 90 years ago, sub in Irish or Chinese and you've got a repetition of 100 years or so ago.

    Support groups, and medical facilities on the other hand where appropriate would without a doubt be of benefit to everyone who has a rare condition. As well as being less wasteful of medical care for everybody else.

    I'm sure that for those people that do have a rare condition that it would be nice to know other people with it, but it is a risky thing to concentrate a group of people that are different than the populace at large, if for no other reason than it makes it far easier to establish an us them mentality. Even a minor condition like being able to wiggle ones ears makes a surprising impact on ones world view.
  • Homo solus (Score:1, Interesting)

    by MellowTigger ( 633958 ) on Saturday December 29, 2007 @06:32PM (#21851758) Homepage
    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 the typical human skull does;
    • differs not just in skull size but also in brain organization, showing changes in several brain structures;
    • responds differently (usually over-sensitive) to all manner of physical stimuli: sound, texture, light, odor, taste;
    • adheres to unusual dietary standards, sometimes with profound alteration in diet necessary to accomodate healthy digestion;
    • shows an unusual social instinct, actively avoiding crowds and seeking isolated or sequestered environments;
    • rarely displays command of deceptive behavior, instead the individuals often use a single standard for all social engagements (frequently ignoring protocols of social strata or personal boundary);
    • sometimes displays assortative mating, with parents possessing less-exaggerated qualities producing children of more pronounced qualities;
    • possesses epigentic differences spanning many chromosomes and sites; and
    • possesses genetic differences spanning many chromosomes and sites.
    If we were talking about some animal other than humans, wouldn't all of these changes (the behavioral and skeletal and biological all taken together) suggest a new species? So when we talk about humans, why suddenly change standards? I think it's time to stop talking of autism as defect but instead as prospective evolutionary path.
    http://home.earthlink.net/~mellowtigger/evolution.html [earthlink.net]

The only possible interpretation of any research whatever in the `social sciences' is: some do, some don't. -- Ernest Rutherford

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