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Scientists Complete Map of Human Genetic Variation
UltimaGuy writes "A major scientific step in the field of genetics is set to speed up the search for the causes of common illnesses ranging from heart disease and cancer to Alzheimer's and asthma. Scientists have mapped patterns of tiny DNA differences that distinguish one person from another, a step that will speed up the search for genes that promote common illnesses such as heart disease and diabetes."
If there ever was a case for computational biology, this is it. :-)
I am defenseless. Use your button. Mod me down with all of your hatred.
I'm not sure how they define "complete", but I bet in 30 years or so, after major discoveries have been made based off this, and all the patents have expired, and I'm dying of old age, this could really lead to some good treatments for a number of rare genetic illnesses, except for those so rare as to make developing a treatment unprofitable.
All those tiny little variations they've mapped are either owned, or going to be owned by a company. This is good news, because curing almost any disease will be as simple as opening your checkbook. If you can write a digit followed by 6 zeroes in that checkbook, you're A-OK!
Fascism trolls keeping me up every night. When I starts a preachin', he HITS ME WITH HIS REICH!
Hurry up!
As a survivor of stage I kidney cancer, stage III colon cancer, arthritis, and diabetes I am a little anxious for progress in this field.
Maybe so but how many people are actually keeping track of this kind of research? I do to a certain extent because I have Usher Syndrome (a genetic condition) but I bet most people don't. I think it's great that they make announcements like this so the masses get to know about it. Maybe this kind of exposure will help more stem cell research to get done someday. If that happened then I might not have to face a future where I'm blind and deaf...and other people with genetic conditions may see cures in their lifetimes too :)
Do you really think its possible? Technology is one of those things where once the cat is out of the bag, its gone.
South Korea has already demonstrated that is has no qualms about going into stem cell research while everyone else in the western world throws a hissy fit over it.
The real question is:
Why shouldn't insurance companies be allowed to screen their applicants if they can prove that you are genetically inclined towards particular diseases?
Why shouldn't you abort a child if it will have a debilitating disease, or a one that causes great suffering?
I think as this continues, the magic topic of race will come up more and more. We already know for a fact that certian races are more prone to certian types of diseases. There is even a heart medication (I believe) that is targeted towards Blacks. How will people react to the mounds of evidence that will continue to build that the races are not indeed equal as they would want to believe?
Obviously, there are plenty of social concerns and consequences to go around. However, I do not think laws will magically make them disappear.
The first two are obviously evil, but the third is perhaps the most terrifying.
The third is the start of real genetic engineering - imagine upgrading your kid's immune system to dropkick any nasty bug you care to mention without immunizations. You could also do stuff like extend middle age to 120 or so, or bring metabolism under concious control - weight loss is a matter of wanting to burn more calories.
"We returned the General to El Salvador, or maybe Guatemala, it's difficult to tell from 10,000 feet"
There are no bad genes. Evolution didn't just come around and place some miscreant gene in your body just to give you a hard time after living off a diet of pizza and Mt. Dew for ten years. Every gene has its own function.
While it may sound like falling into the pathetic fallacy to call a gene "bad," there are many traits which are almost certainly highly genetically dependent that most people would rather not have. Not just rare "genetic disorders," either. Is there really any function for myopia, for instance? What about colorblindness? Both of these conditions are very common and almost certainly very genetically-influenced. Given a choice, no one would want to be born knowing they'll need eye correction at some point in their life. Can't we just agree that genes which cause this kind of condition are bad?
I'd perhaps pay more attention to your concerns if you appeared to know more about the subject. An antibiotic is a drug that kills or slows the growth of bacteria. It has no effect on viral agents.
As such, a virus doesn't "learn" to get around them.
And THAT being the case, your comments strike me as little more than the semi-modern version of that hoary cry, "There are things man was never meant to know."
Any sect, cult, or religion will legislate its creed into law if it acquires the political power to do so.
As of 2001 the location of the genes that causes Red/Green color blindness had not been located. We know that at least one of them is located on the X chromosome, but no idea where. In 1997 the gene that causes Achromatopsia, the complete inability to distinguish color, was located on chromosome 2 but this is the rarest form of color blindness. But say I had Achromatopsia, or that we located the gene for Red/Green color blindness, is there any hope of a cure? If you were to extract some of my stem cells, do some gene therapy on them, inject them into my eye and then flash my retina with a bright light would it grow back with a greater capability to distinguish color?
I know it's more sexy to cure debilitating genetic diseases but there's a lot more people out there with color blindness than there are people with hemophilia. Surely economies of scale dictate that we should get the first shot at a cure.
How we know is more important than what we know.
There are plenty of excellent scientific justifications for the HapMap project and if you're as unaware of them as it sounds, then I wonder what sort of human genetics you actually do. The HapMap is already transforming the way human genetics is being done and if you're unaware of its importance then you must be living under a rock. At the American Society of Human Genetics meeting where this was announced, there are literally hundreds of presentations that touch on the HapMap project in one way or another.
There are excellent reasons for focusing on common genetic variation as the HapMap project has done. One is pragmatic; there are billions of rare variants, but to catalog their relationships would take stupendous effort and would be nearly useless from a practical standpoint. Between any two individuals, nearly all of the genetic differences are common ones in the population. There is a ton of well established statistics that shows that most of the common variation can be captured using a limited number (250K, 500K, etc) of markers, and that these variants generally cross conventional "racial" boundaries because they predate the radiation of humans out of Africa.
One of the PIs is Mormon because there is an extremely well characterized collection of Utah Morman DNA samples (the CEPH pedigrees), that have been used for decades, that were chosen for the "European descent" portion of the HapMap. That guy has been working with those families since they were first recruited to participate in genetic studies. The amount of money that went to Utah had to be trivial because none of the laboratory work was done there.
I think your going a bit over board here. 'Bad' is clearly just a label applied to those less inclined to what we consider "more beneficial".
I don't see the problem with those populations in using them to get a general idea of where MOST variations are likely to occure. As touching the Utah issue there's more to be said for a comparatively issolated control group in the situation then you seem to want to see. I doubt you could find a pool much more homogenous as a group, geneticaly, from which you could have sufficient controls to make sufficiently solid conclusions. And as to the historical documentation with respect to the overall health history that can be tied to the group I doubt you could get a better base from which to work anywhere in the world as readily as with the groups in Utah.
It's a start. When you have limited funding and resources with which to sequence why would you just randomly pull populations from some metropolitan suburb of Bombay, where genetic isolation required to have any prayer of coming to any remotly usable conclusions would be impossible without an over night macro scale, el cheapo brand of omni-sequencing technology.
The model isn't designed to be a perfect science. You seem to refuse to see that untill we have the all available cheap n' fast sequencing machines next to all the ATMs that we are relegated to limitations like those of the Meteoroligist, Archeologist etc.. You won't even be able to approach anything near pure science untill then so we'll do with what we got.
Quite a few roads to hell have been paved by eugenicists, so it shouldn't be surprising that many people now hesitate walking on paths that intersect them, knowing full well that there will always be people willing to turn at that intersection and follow in those footsteps, perhaps without even noticing.
The "real question[s]" you point to look more like pamphlet questions to me--the easy, obvious questions that guide the reader to predetermined conclusions. Then the segue into "the magic topic of race". A couple of statements of "fact" to get the nod of agreement, and then,
"How will people react to the mounds of evidence that will continue to build that the races are not indeed equal as they would want to believe?"
Hello! How easy is that jump from issues of medicine to issues of sociopolitical philosophy?
I think the point is that people living with these diseases would like to have cures. Maybe they just want a shot at living a normal life and an average lifespan. There are no guarantees for anyone, but having a fighting chance is nice.
Let me give you a couple of examples of what it is already doing. I have a dear friend with an inoperable brain tumor. It turns out this particular form of tumor has genetic markers that are strongly correlated with its response to chemotherapy. After a biopsy of the tumor they can run genetic tests and give you a much clearer picture of whether chemotherapy is likely to be effective or not. As you doubtless know, chemotherapy is no picnic, so it is a hard, hard decision figuring out whether you should undertake a treatment that may extend your life 5 years, or simply screw up the the last three months you have. Tools like this genetic analysis help a bit.
On the absolute cutting edge of genetic therapy, doctors in France treated several children who had no immune system (bubble boy disease in popular parlance) due to a genetic defect. They were able use viruses to transfer a correctly functioning copy of the broken gene into the children's bone marrow. All of the children developed fully functioning immune systems. Unfortunately three of the children developed leukemia and one died. Certainly here is an example of the unforeseen consequences you are worried about, but what do you do in the face of a lethal disease like this?
Do these sound like cosmetic surgery?
How is this different from any form of medical care now in existence? Across the world, even in countries with socialized medicine, the wealthy can get better health care then the poor. If you are going to wait to develop medical treatments until this inequity can be solved, you are going to wait a very long time.
But again I ask, what is your moral standing to make this criticism? How much of your time and treasure have you given? You could cancel your cell phone this very week, send the money to Doctor's Without Borders, and they might save several lives with the supplies that it buys. Are you going to do it? I don't mean to pick specifically on you here. I have a cell phone, and unfortunately I am not going to cancel it and give the proceeds to a worthy cause. I'm just trying to make the point the people are sometimes too quick to demand charity and sacrifice in others while not offering it themselves.