{bio,medical} informatics
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Wired News
Gene Project Nears Finish Line"A scientific effort to map all of the small but vital genetic variations between humans is nearly complete. It's free to the public, ahead of schedule and under budget.
On Monday, Arthur Holden, director of the SNP Consortium, told an audience of scientists and biotech marketers at the Genome Tri-Conference about the latest progress in a project to map SNPs (single nucleotide polymorphisms)."
"Of the roughly 3 billion nucleotides in the human genome -- the A, C, T, and G pairs, or rungs of the ladder in DNA -- 99.9 percent are the same for everyone. Some of the SNPs that occur in the remaining 0.1 percent account for the differences among people.
Within this .1 percent, scientists estimate there are about 3 million SNPs in any individual, and Holden said on Monday there could be up to 12 million of the variations among the entire population." [via nodalpoint]
"To explain human complexity, Lander cited evidence that human genes are two to three times as likely to undergo alternative splicing as the fruitfly or the worm, and explained that humans have unique protein domain architectures that allow the development of distinctly human features.
Lander ended his talk by saying that with almost 1.5 million SNPs discovered already, it will soon be possible to build a haplotype map of the human population and begin studies correlating genetic variation with human disease."
""Bioinformatics has been computationally intensive. But now we need to interpret it," [NC State Bioinformatics Center director Bruce Weir] said."
redux [10.23.00]
""If we understood the diseases better, we'd be in a better position to target therapies," said David Altshuler, a geneticist at the Whitehead Institute for Biomedical Research in Cambridge, Mass.
Traditionally, scientists have looked for disease-causing genes by studying large families afflicted with a certain condition. But given enough SNPs, researchers hope they won't have to rely on finding just the right family to study.Theoretically, researchers could simply compare the SNPs of unrelated people with high blood pressure, for instance, to those of people without the condition.
But researchers don't have proof yet that the new approach will work, said Eric Boerwinkle, a geneticist at the University of Texas Health Science Center in Houston.
"I think there's some skepticism," he said. "I don't know of an example where that's been carried out.""
redux [02.18.00]
[summary - can be viewed for free once registered]
"The genetic markers called SNPs have been widely touted as the key to personalized medicine, with drugs tailored to an individual's genotype and simple tests to determine one's risk of specific diseases. But a closed meeting held last week, sponsored by the SNP Consortium and the U.S. National Human Genome Research Institute, concluded that those promises may be harder to achieve than expected, and that more SNPs may be required to track down a particular disease gene than previously estimated.”
[ rhetoric ]
“Bioinformatics will be at the core of biology in the 21st century. In fields ranging from structural biology to genomics to biomedical imaging, ready access to data and analytical tools are fundamentally changing the way investigators in the life sciences conduct research and approach problems. Complex, computationally intensive biological problems are now being addressed and promise to significantly advance our understanding of biology and medicine. No biological discipline will be unaffected by these technological breakthroughs.”
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