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

    by thms ( 1339227 ) on Friday March 12, 2010 @08:28PM (#31459358)

    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 that protein and shutting it down.

    A more megalomaniac idea would be gene therapy: Inserting a retrovirus with a second strand of DNA into the cell.
    That DNA could code for a correct protein sequence. Or, if the original protein sequence is harmful and needs to be suppressed, it could code for interfering RNA, i.e. RNA which intercepts the DNA's RNA and thus disables protein translation. Ah, wetware hacking!

  • by jfengel ( 409917 ) on Friday March 12, 2010 @08:28PM (#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.

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

    by virtualXTC ( 609488 ) on Friday March 12, 2010 @09:26PM (#31459990) Homepage

    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 cause of the disease, find a small molecule that restores function to the mutated protein (or potentially further up stream: allows the mRNA to fold properly).

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

    by Thng ( 457255 ) on Friday March 12, 2010 @09:28PM (#31460012)
    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.

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

    by moogied ( 1175879 ) on Friday March 12, 2010 @09:32PM (#31460050)
    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.
  • by dorpus ( 636554 ) on Saturday March 13, 2010 @12:12AM (#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.

  • by Anonymous Coward on Saturday March 13, 2010 @04:26AM (#31462514)

    Evolution has been going 100 times faster in the last 10,000 years than in the long, tedious years before it during which we let our "weak" people die because we hadn't invented medicine more advanced than "lie down and hope you get better soon." http://discovermagazine.com/2009/mar/09-they-dont-make-homo-sapiens-like-they-used-to/article_view?b_start:int=0&-C= [discovermagazine.com]

    Now, kindly turn in your keys at the door and never come back.

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

    by Hazelfield ( 1557317 ) on Saturday March 13, 2010 @07:21AM (#31463034)
    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 evolution does not work that way. Major changes in the genome generally happen within small, isolated populations. With such a huge population as humans on Earth is, evolution will be an extremely slow process. The gene pool will be mixed and mingled and these undesired traits will come and go.

    Third, it's not clear what would represent "good" and "bad" traits (let alone genes) in humans. For example, people suffering from sickle-cell disease are more resistant to malaria. It would also be extremly difficult and costly to determine which genes are good and which are bad. Evolution, on the other hand, doesn't care. It only cares about if the genes are good enough to let the individual survive and reproduce. For this reason, eugenics is generally considered a pseudoscience.

    Fourth, and I really shouldn't have to mention this, no one in their sane mind wants a government that gets to decide who can reproduce and who can't. If you don't see why this is a bad idea, then maybe YOU should refrain from breeding because we surely don't want anyone who lacks imagination to reproduce, right?

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