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Regardless of the differences between the studies, the fundamental findings are the same, both McPherson and Stefansson stress.
The researchers anticipate that the identification of the variant will lead to new DNA-based diagnostic tests that could identify young people at high risk for heart disease. With a new test, physicians could potentially select the high-risk patients who would benefit most from lifestyle changes and drugs like aspirin, statins, and the like. This is a disease for which there are "good preventive therapies," says McPherson.
The newly identified genetic risk variant is not actually a gene; rather, it's a segment of DNA that falls in the vicinity of two genes previously implicated in cancer. "Our experience is that almost all these variants that predispose to the common diseases are not in the coding sequence of genes," says Stefansson. "They are outside the coding sequence and influence expression. I'm not surprised to find them some distance away from genes."
In just the past week, the location of the risk variant has become a hot spot in the genome. Four independent teams, including DeCode, published reports linking the same region on chromosome 9 to diabetes.
"I think this is a stunner," says Francis Collins, director of the National Human Genome Research Institute, in Bethesda, MD, and leader of one of the four teams, during a seminar on genome-wide association studies. "This is like the seat of the soul of the genome. It seems like this one place carries all of that weight for two very common and very dangerous diseases."
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1 Comment
This study is junk science
Another news piece on this study said explicitly that they do not have any idea by what mechanism these mutations cause heart disease. There are only two ways to develop heart disease; faulty cholesterol metabolism, and impaired glucose metabolism, both easy to clinically demonstrate in large numbers of the people who have them well before tehy actually get heart disease as many people did during the course of this study. You can't do genetic medical research by just feeding in genetic code and printing a computer printout, you have to do actual medicine. How could they make no effort to learn which common glaring and easy to detect metabolic problem ailed their research subjects with the genetic mutations who developed heart disease? We're talking about several tests for impaired glucose metabolism and one simple blood test for high cholesterol! This study is junk science, and it needs to be condemned as such. Mutations might be there, might not, but the people who did this study need to be drummed out of their profession as an example to other scientists to make sure they've grown heads before they do research.
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Guest (rhapsodyinglue)
Re: This study is junk science
Well, I'm certainly glad you're not the one that decides who gets research funding. That policy of considering any research as junk if it doesn't give you 100% of the answer right now, would rule out a vast majority of medical research.
This seems like pretty important breakthrough in our knowledge of heart disease. Next step may indeed be studies to try to link particular genetic markers with corresponding clinical indicators such as elevated serum cholesterol or blood sugar imbalances. Final step would then probably be trying to figure out exact metabolic pathways that account for the physiological changes associated with the genes.
To almost any scientist in the world the phrase junk science would imply flawed studies where the claimed result is not demonstrated by the experiment or analysis. You certainly seem to be expanding the meaning, counterproductively I might add, by labeling something junk merely because you think a particular researcher should have started with a different set of goals for a particular study.
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