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Biotech Medicine

Hunting Disease Origins By Whole-Genome Sequencing 124

Posted by timothy
from the motivation-defined dept.
ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."
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Hunting Disease Origins By Whole-Genome Sequencing

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  • by Darkness404 (1287218) on Friday March 12, 2010 @07:08PM (#31459060)
    With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.

    Plus, even then is there much we -can- do if we figure out something is genetic?
    • So what are you saying, that we should never try to learn such things? Treatments will come after accurate diagnoses.
    • Re:Can of Worms? (Score:4, Insightful)

      by WillDraven (760005) on Friday March 12, 2010 @07:18PM (#31459216) Homepage

      Maybe not yet, but it sure is hard to begin fixing something before you know why it's broken.

    • Re: (Score:3, Informative)

      by thms (1339227)

      genetic discrimination

      I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from. I don't see much of a problem there, especially since you can point at everyone and ask them with a sharp eye: "Are you sure you don't carry some expensive genetic screwup which can only be fixed by a $250,000 individual cure?"

      Plus, even then is there much we -can- do if we figure out something is genetic?

      Well, if you can derive how e.g. a protein folded wrong you might be able to find a drug which fixes that by attaching to

      • Re: (Score:1, Insightful)

        by Anonymous Coward

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

        You're not an american, I take it.

        • You're not a corporate shill, I take it.

          Fixed that for ya

        • by eyendall (953949)

          Yes. And how long will it take before life insurance companies require that you disclose any such genetic information available about you?

      • genetic discrimination

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence

        Tell that to my lump of thorium!

      • I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from. I don't see much of a problem there, especially since you can point at everyone and ask them with a sharp eye: "Are you sure you don't carry some expensive genetic screwup which can only be fixed by a $250,000 individual cure?"

        Tell that to someone with Turner's syndrome when they're trying to get insurance.

      • by Xipe66 (587528)

        Wow, how quaintly naive.

      • I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

        I'd disagree. You aren't being cynical enough. You don't think that there's someone who would say "They're contaminating the gene pool and shouldn't be treated at all!" ?

        • Re: (Score:3, Insightful)

          by GNUALMAFUERTE (697061)

          They ARE contaminating the gene pool, and whether you like it or not, they should not be allowed to reproduce. Here's my idea: You want society's help? Get sterilized, and then we'll help you. We won't sterilize you forcefully, but if you want our help, that's our price.

          In the past, weak people died, strong people lived, and eventually that lead us to where we are. Instinct brought us here, and It wasn't the instinct of the weak and diseased.

          We, as a society, can help and fix the diseased, but doing that me

          • Re: (Score:3, Insightful)

            by Anonymous Coward

            What if the gene pool that YOU choose to eliminate might save mankind one day?

            http://en.wikipedia.org/wiki/Sickle-cell_disease
            >Since the gene is incompletely recessive, carriers can produce a few sickled red blood cells, not enough to cause symptoms, but enough to give resistance to malaria.

            • Re: (Score:3, Funny)

              What a fucking irony that would be.
            • Yeah this was covered in a Star Trek Voyager episode (Year of Hell). Guy fucked his own race by removing an immunity to a disease by fucking with the timeline.
            • What if the gene pool that YOU choose to eliminate might save mankind one day?

              http://en.wikipedia.org/wiki/Sickle-cell_disease >Since the gene is incompletely recessive, carriers can produce a few sickled red blood cells, not enough to cause symptoms, but enough to give resistance to malaria.

              Better yet, what if HE has that same gene-polluting desease? People that love the US vs THEM talk always assume they are safely and soundly part of the "US" camp. It was easy when it was whiteys vs blackies, but in almost any other realm of discrimination differences aren't as clear-cut and you can just as easly fall in the same lot as the 'unclean'. If more people understood that, there would be less bigots of any type.

          • we'll have great hair!

          • Re: (Score:3, Insightful)

            Or, maybe we could provide that $250,000 treatment to each other at a much more reasonable price in order to preserve a larger diversity of the gene pool, which is in the long run even better for humanity than forceful sterilization.
            • Re: (Score:2, Interesting)

              by GNUALMAFUERTE (697061)

              Diversity is no good if there's no natural selection.

              I'm not a racist, or a white supremacist, or any other crap, ok? To me, racism is utterly stupid. What 'race' you are doesn't have any kind of influence on the kind of person you are, except for the Check republic. In that case, I'm racist. They have the hottest babes in the world, and we need more of their genes (For the well being of our species, off course :D ).

              But I'm genuinely concerned about the neutralizing of natural selection. I'm proud of my her

              • But who can say what is best to have? Someone with a horrible genetic disease might be made immune to some future superbug by that condition, and therefore this "diseased" line would be more fit than any other. Likewise, they may require far less food energy to live than the average human, making them fit for some sort of future global famine an Olympic medalist with a Ph.D. in Physics might not make it through.
                Traits modern humans seem to value like excess intelligence may not be beneficial in survival sce
                • Just as I don't mind dying if that's what needs to happen, and if staying alive would mean trading in my dignity, I don't mind the whole of our species vanishing if it's what's bound to happen, and changing that would require loosing our dignity as species. Our intelligence and precise motor skills are our higher achievements. If surviving as a species means loosing that, If it's ONLY about surviving at any cost, cockroaches are better at that than any member of our society. I'd rather just go and leave ju

                  • Re: (Score:3, Insightful)

                    by tsa (15680)

                    I have never heard such complete bullshit in my life.

                  • by b4dc0d3r (1268512)

                    You clearly have no sense of self-preservation. That being a critical trait to the survival of the species, I've made an appointment for your at your local Species Betterment clinic, who will gladly assist you in doing what is right for mankind. Thank you for bringing this to my attention, and have a nice day.

              • Re: (Score:3, Insightful)

                by Anonymous Coward

                The entirety of your argument is based on a logical fallacy that there is some "obligation" that humans have towards evolution, which you keep repeating on and on. It carries with itself the idea that we are entirely capable of understanding the complexity of the ecosystem and we should actively intervene so that we don't "break" it in any way.

                "Diversity is no good if there's no natural selection" - this argument, while it sounds nice and logically founded, is really not much more than a nicely-presented op

                • Bullshit. Pity is a morbid and dangerous state of mind (So said Aristotle, Nietzsche agreed, and so do I).

                  It's christian in nature. Taking care of the weak and diseased. It's a cult of dead. We need to get rid of christianity, it's polluting our minds.

              • Don't worry about natural selection; it's still killing us. While it's true that we're no longer being eaten by giant bears and saber-tooth tigers, we have a bunch of new things that can kill us, like traffic, drug addiction, and modern warfare. Also, the old killers like disease and famine never went away. Modern society probably puts different selective pressures on us, but we still have to adapt to our surroundings.
              • Re: (Score:3, Informative)

                by Hazelfield (1557317)
                I can't believe this got modded insightful. Even without the racist insinuations, it's just plain wrong.

                First, evolution does not have a purpose, and we surely don't have a "duty of doing our part in evolution". Evolution is just a natural process. Saying we have a duty to evolution makes about as much sense as saying we should stop building airplanes because we're neglecting our duty to gravity.

                Second, the idea that we need to "weed out" the undesired traits in the human species is wrong because evol
          • Re: (Score:3, Interesting)

            by thms (1339227)

            Ah, slashdot. I make one dream-eyed, hopeful, but ultimately naive (I admit) comment and everyone jumps on it. I originally only wanted to comment on the "how to fix it?" question but thought a bit of optimism to prefix that might not harm :)

            On to this comment which irks me:

            [..]contaminating the gene pool [..] Instinct brought us here [..] fix the diseased, but doing that messes with evolution [..] In today's society, the weakest, less intelligent and poorly educated reproduce more than the rest of us [..] make sure they don't reproduce. [..] It's either that, or face our own destruction a few centuries

            What the fuck?! And I mean this in a truly perplexed if slightly disgusted way. Humans are animals, true, but we are the first animals which can transcend that fact. You think that since we come from the mud, we will always stay there.

            • unwilling participants

              Since you claim to have a problem with forced participation, I'm sure you won't mind that some of the rest of us are unwilling to participate in the expensive, wasteful, and ethically repugnant collectivization schemes required to carry out your unproductive utopian bullshit.

          • by DrFalkyn (102068)

            I assume you're opposed to antibiotics? Sunscreen? Clothing? Humans have made all types of adaptations to cover for our "genetic weaknesses".

          • by expatriot (903070)

            They ARE contaminating the gene pool, and whether you like it or not, they should not be allowed to reproduce.

            There are some people who deliberately want to have disabled offspring (deaf culture for example), but this is not that:

            - The condition is recessive

            - If the number of carriers become large enough, testing can be done before marriage (http://www.victorcenters.org/ for Jewish diseases)

            - We (society) don't get to choose. And we could not do so without a state institution to rival Nazi or Pol Pot (or Gattaca if you prefer geek rather than Godwin analogies).

            - CMT is, for most people, a relatively mild conditio

      • by baKanale (830108)

        genetic discrimination

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence...

        Coldhearted persons discriminate all the time based on something as arbitrary as the color of a person's skin, a trait encoded in your genetic makeup with you cannot influence. And that's not even when they stand to make money off of it, either.

      • by jamesh (87723)

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

        I agree with that. Knowing that you might carry a defective gene, you can make a decision about if you are going to have kids or not though. I don't have an answer for this, but if you are aware that there is an x% chance of passing on some serious defect to your children, where x is above some magic threshold, should you expect a caring society to insure your family anyway? Taking it another step further, if mandatory genetic scanning[1] of your unborn child shows that has some serious defect, what should

      • Re: (Score:3, Interesting)

        by sjames (1099)

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence and which a caring society should insure you from.

        The problem is that HR policies don't have hearts at all. The very name Human Resources sounds like a euphemism. Frankly, there are plenty of corporations out there that would happily toss babies into a wood chipper if there was any profit in it.

        • Re: (Score:1, Troll)

          Frankly, there are plenty of corporations out there that would happily toss babies into a wood chipper if there was any profit in it.

          And for every one of those corporations, 10 million conservatives and libertarians who would take to the web to explain in great detail why them doing so was moral, beneficial to us all, and would only be opposed by statist, collectivist fools who would rush us headlong to the Soviet model. In the libertarian world, if it's profitable then it's moral. In the conservative

      • Humans use their minds to recognize traps. There aren't a lot of us who know how to avoid the 'genetics' hook, but it is possible...

        I think even the most coldhearted persons must admit that your genetic makeup is something you cannot influence

        I may be the most coldhearted person you'll never meet (the man who used to train mercenaries said I missed my true calling), and I do a damn good job of influencing my genes.

        DNA Is Not Destiny [discovermagazine.com] (Discover Magazine)
        Why Your DNA Isn't Your Destiny [time.com](Time Magazine)

        Why do some people with the "bad gene" develop a given disease, while other people do not? Epigenetics FTW! :)

        Eat right,

    • Re: (Score:2, Informative)

      by virtualXTC (609488)

      With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation. Plus, even then is there much we -can- do if we figure out something is genetic?

      Sad you were modded flamebait for voicing honest concerns. Good thing you were the FP.

      Genetic discrimination is already illegal in the US.

      Understanding that a disease is genetic DOES allow us to do something. Take pompe disease [wikipedia.org] for instance, there are now 2 possible ways of treating it that we were able to derrive from our genetic understanding. The first, and most obvious; make the protein that is deficient in the patients with the disease and administer it to them. The second; now that we know the

    • Re: (Score:3, Informative)

      by Thng (457255)
      Genetic Information Nondiscrimination Act (GINA) [gpo.gov]

      from Newscientist: "After more than a decade of political debate, GINA bans health insurers from setting premiums or denying coverage based on the results of genetic tests, as long as customers have no pre-existing disease symptoms. It is also aimed to prevent discrimination in employment decisions."

      Discrimination still could happen, but there appears to be a bit of a framework to work against it.

      • ...And discrimination is illegal based on race but that doesn't stop racial discrimination does it? Discrimination in a lot of forms was illegal during segregation, yet you would hardly consider it discrimination free.
        • And discrimination is illegal based on race but that doesn't stop racial discrimination does it?

          There is demonstrably less racial discrimination now, at least in business and governmental dealings, than there was before various civil rights laws prohibiting were passed. Of course it's not a perfect solution, but it's better than it was, and we can continue to make it better still.

          Discrimination in a lot of forms was illegal during segregation, yet you would hardly consider it discrimination free.

          If by "segregation" you mean the Jim Crow era, that was a period when discrimination was mandated by law. Do you really think that we're going to pass laws requiring that people with certain alleles of certain genes use sep

          • by blackraven14250 (902843) on Friday March 12, 2010 @09:41PM (#31460640)
            For the bathrooms, we do discriminate based on a specific genetic difference right now.
            • by TubeSteak (669689)

              For the bathrooms, we do discriminate based on a specific genetic difference right now.

              When a dude feels strongly enough to get his dick cut off in a sex change operation, society tends to treat the individual as a female despite 'his' XY chromosomes.

              Which bathroom you use is more about sexual identity and appearance than genetics.

    • Re: (Score:3, Informative)

      by moogied (1175879)
      Wow, I don't often to get to use the same post twice.. but uh, they passed a law making genetic discrimination illegal in America.
    • Genetic discrimination is a worry, of course, but the risk of it is far outweighed by the benefits which understanding the role of genetics in human health offers. And the Genetic Information Nondiscrimination Act (GINA) [genome.gov] is actually a pretty good law.

      As for the medical usefulness of genetics ... warfarin (Coumadin) is one of the most widely used clot-busting drugs in the world, and IIRC this [nejm.org] has now been incorporated into the dosage guidelines. It isn't quite the same as actually curing a genetic disease,

    • With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.

      Plus, even then is there much we -can- do if we figure out something is genetic?

      That seems to be a really short sighted view. Once you find the major problems and prevent people with those from passing the "bad data" on to their children the burden on both the family and society drops off sharply. True, there may at first be some people that can't bred with certain other people, or maybe even should not bred at all... I would think that if gene therapy is going to benefit us it would be easiest to apply at the "one egg, one sperm" level rather than trying to modify a complete human...

    • With every advancement in figuring out genetic diseases, I can't help but think that the combination of this plus drug testing will lead to genetic discrimination, or at least defamation.
      Plus, even then is there much we -can- do if we figure out something is genetic?

      That would certainly be the pessimistic outlook. One which could easily be legislated away with a ban on discrimination.

      The positive outlook would be that instead of discriminating or paying for expensive therapies we could actually... you know... fix the defects or find more effective treatments which cost less to develop.

    • by pnewhook (788591)

      No. But I can see the day when a child with a genetic disease can sue his parents because given this technology they *should have known* offspring could inherit problems, therefore it is their actions can be considered willful harm.

      Unless of course we build a rocket and fire all the lawyers into the sun.

    • Re: (Score:3, Interesting)

      by dAzED1 (33635)

      genetic testing allowed me to know that I do indeed have a genetic disorder that causes a lack of an enzyme involved in the processing of l-dopa, causing me to frequently not have enough dopamine in my brain...giving me dopa-responsive dystonia, treated via the same thing Parkinson's suffers use (sinemet).

      That being the case...I'm going to genetically discriminate myself, and get a vasectomy. I'd never wish this upon a child...not when we've since figured out that my father's lifetime non-drug-responsive h

    • Genetic disorders occur because of either over- or under-activity of whatever protein is encoded by the mutant gene. Once the gene is discovered it is possible to figure out the characteristics of the protein it encodes and treat with drugs that can counter the over activity by inhibiting the protein or counter the underactivity by mimicking or stimulating the protein.

    • by physburn (1095481)
      Well now, there be an easy test, for the disease, but no cure. But in principle finding the gene, does lead to a cure relavitively easierly. If the broken gene, needs to de activated then the physicians can use RNA interference to de activate the gene. I the broken gene, is something important missing then in principle, gene therapy, insertation of an other copy of the gene, using a retrovirus should cure the disease. I say in principle, neither RNA interference nor Gene therapy a proven technologies yet.
  • scary part of TFA (Score:1, Insightful)

    by Anonymous Coward

    But cost-wise, personal genomes may not be far off. For example, Bird at the University of Washington says that a comprehensive genetic screen for inherited nerve diseases costs about $15,000. Researchers estimate that Lupski's genome cost about $50,000. And Complete Genomics, a startup in California that sequenced the family in Hood's study, will soon offer bulk sequencing services for about $20,000 a genome, with a $5,000 price tag not far behind.

    How long before sequencing becomes part of a routine physic

    • The scary part is, its pretty easy for them to get a sample of DNA for "drug" testing. Its quite sad how bad the paranoia is about it. ZOMG its so terrible to have someone take phone calls that may have used drugs!!!111!!11!1
    • Re: (Score:1, Insightful)

      by Anonymous Coward

      So instead of changing the corrupt health care system, you want to ban life-saving technologies? Get back to your third-world shithole. Americant.

      • by thms (1339227)

        [..] Americant.

        You spelled A-merry-cunt wrong?

        Also, I am not sure "LOL-Americans!"-comments are helping much with fixing healthcare or your foul mood and complexes. Better brag about how your own healthcare system rocks than throw insults.

    • by pclminion (145572)
      I don't think the problem is limited to gene sequencing. For instance, here in Oregon the insurance companies are required to provide coverage for certain types of smoking cessation treatment. However, you'd have to be an idiot to take them up on their offer, because as soon as you do, they know you are a smoker and will certainly jack your rates through the stratosphere. I wouldn't be surprised if the insurance companies actually backed that law.
    • Re: (Score:3, Insightful)

      by Idiomatick (976696)
      Yeah, itd suck to have drugs individually tailored to your genes. They'd work like, way better. Plus you could get information on maldies that you might come across. Hell you may be able to work pre-emptively to avoid getting them.

      Honestly there are tons of reasons why this is a GOOD THING.
    • Less than 3 yrs before it's feasible; more than 7 due to public backlash.
    • Re: (Score:3, Insightful)

      People in the sequencing biz talk about the "thousand dollar genome" as kind of the magic number, and the consensus is that we can expect to get there in five years or so. At that point, yes, it will be a routine part of everyone's medical record. As for discrimination, the best we can do is guard against it; the Genetic Information Nondiscrimination Act (GINA) [genome.gov] is a very good start. There is no way in hell that we are going to turn our backs on the enormous medical potential of cheap, nearly universal se

    • Re: (Score:3, Interesting)

      by jeff4747 (256583)

      How long before sequencing becomes part of a routine physical exam, and having the disease-prone genes becomes a pre-existing condition for health insurance purposes?

      That depends.

      If the Democrats manage to pass health care reform, there will no longer be any "pre-existing conditions" so the question is moot.

      If the Republicans manage to stop health care reform, it'll take 10 minutes.

      (Actually there's a law against using genetic tests to set insurance rates, but I wanted to get a little snark in)

  • by jfengel (409917) on Friday March 12, 2010 @07:28PM (#31459386) Homepage Journal

    Your genome has a lot of differences from the reference genome. They narrowed down the differences based on a lot of previous work discovering genes linked to the disorder.

    Only then were they able to zero in on precisely what gene in his specific genome caused the problem, and confirm it by testing other family members.

  • This brings the phrase "do it yourself" to a whole new level.

    • If you want something done right, do it yourself. I am not much interested in my genome, but the contents of my brain are of great interest to me, especially if they could be extracted onto other media.

      • I read that as an odd suicide threat rather than scientific endeavour.
        • Recently my seizure disorder came back and I contemplated the possibility that there was something growing in my brain. Fortunately an MRI told me that there is nothing in there apart from normal brain stuff so I will be around for a while longer. But for a while I thought my only chance for long term survival would be a port to different hardware.

  • Ambiguous parsing (Score:3, Interesting)

    by pablodiazgutierrez (756813) on Friday March 12, 2010 @07:33PM (#31459454) Homepage

    What's this Hunting disease they talk about?

  • Interestingly, this is a very similar article published by the NYT the day before - http://www.nytimes.com/2010/03/11/health/research/11gene.html?ref=health [nytimes.com]
  • ...will be those they expect to find in the genes, but won’t. Like many of those so-called “age-related” diseases. Because then they have to admit it’s caused by the environment. Like the actually food-related group.

  • by hduff (570443)
    My local paper had this story in today's edition. Are they getting better or is Slashdot getting, um, sluggish?
  • by MichaelCrawford (610140) on Friday March 12, 2010 @10:10PM (#31460894) Homepage Journal
    If anyone can make a credible offer to sequence my genome, drop me a line at mdcrawford at gmail dot com and I'll arrange for you to get a sample of my DNA. I will gladly sign an informed consent that would permit you to release the lot of it publicly - you need not be concerned about issues of confidentiality. Really I would prefer it that way.

    I have two distinctly different mental illnesses, a neurological condition that affects my brain, and a circadian rhythm disorder that more or less makes it impossible for me to hold any kind of nine-to-five job.

    I have Bipolar-Type Schizoaffective Disorder, which is just like being Schizophrenic and Manic Depressive at the same time. That was diagnosed in 1985. I also have Obsessive-Compulsive Personality Disorder. That's quite a different thing than the more well-known Obsessive Compulsive Disorder (OCPD vs OCD). I was told of the diagnosis in 1994 but I have reason to believe the diagnosis was made long before, but my therapist chose to wait many years to give me the bad news.

    The neurological condition is Attention Deficit Hyperactivity Disorder. I got that diagnosis in 2008. ADHD isn't taken very seriously by a lot of people, with some believing that it's not a real illness. It's no joking matter: I got the diagnosis in a psychiatric hospital where I committed myself rather than go off the Golden Gate Bridge as a result of my profound inability to focus on my work. I had been begging all manner of medical and mental health practitioners for help with it for ten years, but none of them had the first clue as to how to help me. It was only the shrink in 2008 who was able to make a real difference.

    My circadian rhythm disorder is Delayed Sleep Phase Syndrome. It is the main reason I am a software engineer - my degree is in Physics, and not Computer Science. When I noticed that many of my programmer friends worked at night, I figured that being a coder would be the only way I would ever be able to hold a real job. All of my life I have slept during the day and stayed up all night. My mother said I was this way even when I was a newborn in the hospital.

    My reason for wanting my genome sequenced is not at all to help myself, but to help others with my conditions. Besides understanding my various illnesses, I also want the medical community to figure out why I have done so well despite what would normally be a profound disability:

    It is very, very rare for someone with Schizoaffective Disorder to live independently, let alone hold any kind of real job. I have a degree in Physics and have been a coder for twenty-two years. But most who share my diagnosis have to live off the disability check, be cared for by their families, spend their lives in institutions, or survive somehow on the streets, tormented by despair and madness.

    There was a time when I was so hopelessly in the grip of my delusions that when God Almighty Himself sent me visions in the sky, I would photograph them. But when the pictures came back from the developer without my visions in them, I figured it was due to my inexperience as a photographer and not because those hallucinations were the products of my own demented imagination.

    My hope is that by having my genome sequenced, I might not only ease the sufferring of others, but prevent a lot of otherwise needless suicides.

    I am absolutely serious: mdcrawford at gmail dot com

    • Wouldn't you be a terrible candidate since you have so many abnormalities? I would think that you would want to sequence someone with one very specific and very extreme case of a disease.

      • Schizoaffective disorder all by itself leads many to suicide. How is it that I could have all of these awful disabilities and even survive?

        I have been through some profoundly awful times. During my early twenties I spent five years almost continuously suicidal. Yet somehow I made it through all that.

        I have met many other schizoaffectives, but so far I have not met even one who is had been able to hold a job for any length of time.

    • One wouldn't think so - and I certainly didn't myself at first - because the symptoms of Bipolar Type Schizoaffective Disorder are so obvious, severe and quite commonly life-threatening: visual and auditory hallucinations, paranoia and delusions - in my case, I am constantly pursued by a shadowy law enforcement agency that I can see but you cannot. I call them The Thought Police, because they are the police inside my head, but ironically just knowing that you're paranoid doesn't make the paranoia go away.
    • by Isaac-1 (233099)

      Although not officially diagnosed (I don't see the point of spending a lot of money being diagnosed given the lack of effective treatment), I too show all the symptoms of DSPD, and feel there is likely a genetic component to this problem as my father suffers from what appears to be ASPD, and my son (now in his 20's) also shows many signs of a sleep phase disorder (he has done sleep studies, etc, but as yet with no official detailed results, other than acknowledgement of a problem). I have been lucky enough

    • It looks like someone is working on this. This PubMed link turns up in a Google search of 'gwas Schizoaffective Disorder': http://www.ncbi.nlm.nih.gov/pubmed/19839995/ [nih.gov].

      They may not be looking at the exact form of the disorder that is affecting you, but at least it's close. You might want to contact the authors and see what they can do. The posted article points out that researchers are moving into studying more rare and complex disease forms, so your case might interest them.

      GWAS = http://en.wikiped [wikipedia.org]

  • by Dunbal (464142) *

    First rule of medicine (well no, not really, it's probably down there around number 87) is "Thou shalt not brute force medicine".

    Of course looking at medical shows, no wonder the public believes that the medical art consists of rattling off possible diagnoses at random and running tests until a magical positive result is found. And good for Dr. Lupski if he found a genetic cause for his disease. However after what was probably not a trivial expense, at the end of the day he went home knowing that, well, he

    • This was not treatment of a disease. It was fundamental research into the causes of a disease. A much different kind of thing that what you're talking about.

    • However after what was probably not a trivial expense, at the end of the day he went home knowing that, well, he had Charcot-Marie-Tooth disease. Er yeah, but he already knew that.

      Yeah, but this wasn't a medical test, it was a scientific test. The goal was not to diagnose but to further basic research.

  • by dorpus (636554) on Friday March 12, 2010 @11:12PM (#31461350)

    I'm getting my PhD in a statistical genetics program.

    The quality of "newly discovered genes" in the literature is very, very poor. Any scientific "discovery" should be replicated by other researchers, but that is not being done. Negative results rarely get published. Since we have tens of thousands of genes, one can find any number of genes that have a "significant association" with a given condition.

    In reality, many diseases are known to have multiple origins. The same disease could be caused by entirely different genes in different people. And that's assuming it is a genetic condition, as opposed to other causes. Researchers have spent decades looking for genes that cause diabetes, but there is increasing evidence that diabetes is really caused by viral infections. In particular, type I diabetes was assumed to be genetic, but there is a fairly large amount of evidence that it is caused by viruses such as Coxsackie B4. The incidence of type 1 diabetes is increasing throughout the world, which cannot be explained by genetics.

    To dispel a couple of other myths, genetic diseases are not always recessive. Many of them are dominant. Also, "bad" genes do not always get selected out of the gene pool; diseases that cause problems later in life, such as Alzheimer's, heart disease, Huntington's, happen after reproductive age and so there is no selection pressure.

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