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Biotech Medicine

Hunting Disease Origins By Whole-Genome Sequencing 124

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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  • Ambiguous parsing (Score:3, Interesting)

    by pablodiazgutierrez ( 756813 ) on Friday March 12, 2010 @08:33PM (#31459454) Homepage

    What's this Hunting disease they talk about?

  • Re:scary part of TFA (Score:3, Interesting)

    by jeff4747 ( 256583 ) on Friday March 12, 2010 @10:15PM (#31460454)

    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 MichaelCrawford ( 610140 ) on Friday March 12, 2010 @11:10PM (#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

  • Re:Can of Worms? (Score:2, Interesting)

    by GNUALMAFUERTE ( 697061 ) <<moc.liamg> <ta> <etreufamla>> on Friday March 12, 2010 @11:18PM (#31460960)

    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 heritage. And I'm not talking about my parents, I'm talking about my great grandparents. I'm proud about the Pampas, and the Euskaldunak, and the French, and other people that long long ago are my parents too. And I'm very proud of some hominid that millions of years ago was a hunter-gatherer somewhere in Africa. I'm proud of being the son of some unicellular microorganism that lived in the depths of the oceans at the dawn of life in earth.

    And I'm proud of them, because they all fought and died for us. We are here, because only the best of what was before made it into the future. We are all part of that collective consciousness.

    We have the duty of doing our part in evolution. We have the world for ourselves, for a little while, and then we are gone forever, and we'll put the world in the hands of those that are unborn yet. Our purpose in life, is to make the best of that time we have, to return a better world to that collective consciousness. Only the very best, le crème de la crème, should perpetuate in what will be our next generation. Otherwise, we've failed as a species.

    It's hard to accept, but that doesn't make it any less true.

    If we kill natural selection completely, we are destined to disappear from the face of the planet.

  • Re:Can of Worms? (Score:3, Interesting)

    by thms ( 1339227 ) on Friday March 12, 2010 @11:34PM (#31461098)

    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. Not much higher than Bacteria there.
    It won't be long and not just treating, but even curing genetic disorders will be possible, i.e. directly fixing them in the germline. Evolution is a really bad method to improve a design unless you are totally lost and don't know where to start. And not only messy, but often cruel to the unwilling participants.

    So on the long run, fuck evolution and our messy DNA, humans are now defined by the sentience which emerged, not by the biological substrate which for now still binds us. We can very well carry our own weight in the future. And before you ask, I am not a follower of the Singularity Ersatz religion, just not a downright pessimist.

    P.S.: Obligatory xkcd about the movie you mentioned and the fatal cultural impact it has: []

  • Re:Can of Worms? (Score:3, Interesting)

    by dAzED1 ( 33635 ) on Saturday March 13, 2010 @12:17AM (#31461386) Journal

    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 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 hypertension is because of the same problem, just presenting differently. Do you have a genetic disorder? Unless you're part of the target audience, don't speak for us ;)

  • Re:Can of Worms? (Score:3, Interesting)

    by sjames ( 1099 ) on Saturday March 13, 2010 @12:21AM (#31461412) Homepage Journal

    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.

  • by MichaelCrawford ( 610140 ) on Saturday March 13, 2010 @06:19AM (#31462842) Homepage Journal
    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. I fear The Thought Police like nothing else, because they come not to arrest me, but to kill me.

    A symptom called "Flat Affect:" makes it nearly impossible to express emotion in any normal kind of way. It's not that I don't experience emotion - I very definitely do - but I am unable to show my feelings outwardly. My expression is always wooden, a poker face. It makes it very, very difficult to connect with other people, especially the opposite sex.

    My most prevalent schizoaffective symptom is depression which is often profound and can be suicidal. I also experience a profoundly euphoric state called mania. One might think that it's not so bad because it is actually a very happy, joyful feeling, it is actually the worst of the schizoaffective symptoms because when I am manic, I am utterly and completely out of touch with reality. I am like a bull in a china shop. When I am manic, it is a matter for the police - lots and lots and lots of police.

    But all of this pales in comparison with my Obsessive Compulsive Personality Disorder. One reason is that I understood from the very beginning that my schizoaffective disorder was bad and just why it was bad, so I was able to work from the very beginning to overcome it. But I had been in psytherapeutic and psychiatric treatment for twenty-four years before I was finally able to understand just how destructive my OCPD had been, not just to me, but to everyone that I cared about.

    Simply being crazy is not so bad. There are many ways to cope, many ways to get by. What really is bad is to be crazy, yet completely unaware of it, Thus it was with me and my Obsessive Compulsive Personality.

    I would be very grateful if you would read this short essay, it is just five pages or so:

    Kuro5hin's undermyne said of me:

    You, sir are a special kind of crazy. They may even name a type of crazy after you. People will no longer be called "odd" when they are batshit, self destructive crazy. They will be called "ogg".

    I am grateful for all of your kind understanding.

The person who can smile when something goes wrong has thought of someone to blame it on.