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Communities of Mutants Form as DNA Testing Grows

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."

27 of 161 comments (clear)

  1. Finally! by MightyYar · · Score: 5, Funny

    Finally I'll be able to find others with an abnormally small penis!

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

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    W..w..W - Willy Waterloo washes Warren Wiggins who is washing Waldo Woo.
    1. Re:Finally! by Daniel+Dvorkin · · Score: 5, Funny

      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 Your information is sadly out of date.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.

      --
      The correlation between ignorance of statistics and using "correlation is not causation" as an argument is close to 1.
    2. Re:Finally! by MightyYar · · Score: 3, Funny

      A Toyota Corolla? You must be hung like King Kong. Next you'll tell me that you don't even have a speed boat or a gold chain.

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      W..w..W - Willy Waterloo washes Warren Wiggins who is washing Waldo Woo.
    3. Re:Finally! by MightyYar · · Score: 2, Insightful

      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 windows. I have a full appreciation for people who are into racing and like to go fast - but most people are just showing off.

      --
      W..w..W - Willy Waterloo washes Warren Wiggins who is washing Waldo Woo.
  2. Handedness by CRCulver · · Score: 4, Interesting

    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?

    1. Re:Handedness by thewiz · · Score: 3, Informative

      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 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.

      --
      If "disco" means "I learn" in Latin, does "discothèque" mean "I learn technology"?
    2. Re:Handedness by hedwards · · Score: 2, Interesting

      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.

  3. Re:Please help out by nuzak · · Score: 3, Insightful

    Can we just IP-ban anyone who posts a myminicity link?

    --
    Done with slashdot, done with nerds, getting a life.
  4. Re:Please help out by The+Ultimate+Fartkno · · Score: 4, Interesting

    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.

  5. That's all well and good ... by ScrewMaster · · Score: 4, Funny

    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.

    --
    The higher the technology, the sharper that two-edged sword.
    1. Re:That's all well and good ... by rant64 · · Score: 5, Funny

      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.

    2. Re:That's all well and good ... by mrmeval · · Score: 3, Insightful

      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. :(

      --
      I'd go on a Vegan diet but the delivery time from Vega is too long. --brownkitty
    3. Re:That's all well and good ... by i.of.the.storm · · Score: 4, Interesting

      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.

      --
      All your base are belong to Wii.
  6. Rare != good by Anonymous Coward · · Score: 2, Interesting

    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.

    1. Re:Rare != good by timpaton · · Score: 2, Insightful

      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 children with a chunk missing out of a particular chromosome. The best resource is other parents, who are caring 24/7 for kids with the same condition. For even the rarest conditions, with only a few diagnosed cases in the world, the internet makes it possible to contact other affected families, and discuss important issues relevant to your children.

      That's how we come to form a "community" around a genetic defect. Discussing our kids' medical needs. Therapy programs. Choice of support equipment. Debriefing over recent experiences. Celebrating achievements and milestones, such as a child learning to speak... at age 9. Education strategies. Ideas for travelling with incontinent young adults. Glamourous stuff. Totally chic.

      For $deity's sake, at least RTFA before posting such a ridiculous AC rant. Or, for that matter, RTFA before modding such a rant as "insightful".

      I'm going to take the indulgence of posting a link to http://www.pkskids.net. I'm sure a few of you can spare a couple of bucks to help people living with and around mosaic tetrasomy 12p. Despite what our AC might think, it's not a designer disability, and not something any of us chose for our children

  7. Re:Please help out by Anonymous Coward · · Score: 2, Funny

    YEAH! 'Cause that's totally what most nerds do! Don't you remember in school? The roaming packs of nerds picking fights with all the bigger, stronger kids?

  8. Save the cheerleader... by slummy · · Score: 2, Funny

    save the world

  9. This isn't anything new by DebateG · · Score: 4, Interesting

    Support groups for families and children with rare diseases have been around for decades. Whether someone in your family has Rett sydnrome, Glanzmann's thrombasthenia, or Schwachman Diamond Syndrome, 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.

  10. Vive la difference - we all carry lethal alleles by dstates · · Score: 4, Informative

    Another name for these microdeletions is copy number variation, a normal form of variation in the human genome. There is also a fundamental concept in population genetics called genetic load 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.

    --
    Statesman
  11. Branching of the species? by Original+Replica · · Score: 3, Interesting

    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.

    --
    We are all just people.
    1. Re:Branching of the species? by servognome · · Score: 3, Insightful

      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.
      --
      D6 63 0D 70 89 81 BB 8E 7B 7C 5F 5D 54 EA AB 73
    2. Re:Branching of the species? by Anonymous Coward · · Score: 2, Insightful

      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 are clueless what is occurring, assume that the child is attempting to rebel, feel that it was their poor parenting/supervision in past and turn the household into an emotionally and psychologically abusive atmosphere, trapping the child and not allowing them to develop essential coping skills, not having the resources to be able to simply leave and support themselves, further trapping them in future unless an outside organization steps in to provide assistance.

      All of this, from a person in the mall calling the parents lazy and the child undisciplined, rather than stopping to ask themselves whether it really is their business -- a child screaming is equally annoying as really loud obnoxious laughter, un-PC jokes in a family environment, or yelling down the aisle for your kid to come to the checkout, or talking at full volume on a cell phone. The difference is that the others are somewhat considered acceptable by the masses, while the screaming child is not, despite that the other 'socially accepted' behaviors might be causing the discomfort for the child that is causing them to scream.

      Issues with sensory integration are NOT fun at all to deal with -- having too much information flooding the body causes an extremely low threshold of being able to deal with things. Routines help make things tolerable, variation can make things overwhelming.

      While it seems ohsocool to outsiders to have incredibly sensitive hearing or sense of touch, it isn't fun at all when the incredibly sensitive hearing is subject to poor acoustic design in shopping centers with sound bombarding from all sides, or crowded places with people pushing past the body, itchy fabric, smells, etc.

  12. Re:Please help out by nuzak · · Score: 2, Informative

    Yeah, it's safe. It's basically like a web-based simcity, and overall looks like a cool fun game concept. But apparently they have some kind of "affiliate program" or whatever that pays you by the page hit, so everyone is spamming them all over the intertubes, pissing everyone off, and myminicity isn't doing a thing about it (hell they created the problem in the first place). Supposedly it's against their TOS, but hey rule #1 about spammers. So now I pretty much wait for them to go out of business, and welcome any suggestions on how to hurry that along.

    --
    Done with slashdot, done with nerds, getting a life.
  13. Re:social pressure by timmarhy · · Score: 2, Insightful
    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?

    --
    If you mod me down, I will become more powerful than you can imagine....
  14. Howard family? by Stiletto · · Score: 2, Funny

    So where's the Howard family's web site?

  15. Re:social pressure by ScrewMaster · · Score: 2, Insightful

    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 her best to discourage it whenever her father wasn't around. She still has some problems from that treatment to this day.

    --
    The higher the technology, the sharper that two-edged sword.
  16. Re:Please help out by Chmcginn · · Score: 4, Funny
    No, no, no.

    They have telekinetic mutant powers.

    Hah, call me off-topic now!

    --
    Have you been touched by his noodly appendage?