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{bio,medical} informatics

Wednesday, October 30, 2002

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The New York Times Gene-Mappers Take New Aim at Diseases
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"A $100 million project to develop a new kind of map of the human genome was announced today by an international consortium. Its goal is to hasten discovery of the variant genes thought to underlie common human diseases like diabetes, asthma and cancer.

The consortium includes government agencies from Japan, China and Canada, and a medical charity, the Wellcome Trust of London. Its largest contributor, from the United States, is the National Institutes of Health, which is investing $39 million over the project's three years."

Genomeweb NIH Launches $100 Million Hap-Map Project
"Hap-map backers, most prominently the National Human Genome Research Institute's Francis Collins, say this effort to identify common patterns of SNPs will catapult research in complex genetic diseases and drug responses into a new and much more sophisticated era. By eliminating the need to scan whole segments of the genome for individual genetic variations, the map will provide a shortcut in the process of linking SNPs to disease.

But the hap map also has critics who charge that this large-scale project is a poor use of resources. Geneticists have not been able to prove that complex diseases are caused by common mutations, they point out, so the hap map may prove to be only marginally useful in clinical work. Some who are more hostile to the project assert the hap map is merely a cynical effort to keep federal research dollars flowing into the country's big sequencing centers."

redux [07.23.01]
BioMedNet Genetic individuality
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"A haplotype is defined as the genetic constitution of a person with respect to one member of a pair of genes. Small differences in genes are known as single nucleotide polymorphisms (SNPs). Researchers analyzed 313 genes in 82 individuals with different ancestral backgrounds. They found that "the strength of the genetic association of pairs of SNPs (linkage disequilibrium), which is important in the identification of disease-related genes, could not be readily predicted from examining individual genes or genomic regions." It appears that haplotypes provide more information as genetic markers in a gene than do SNPs.

Reference: Stephens, J.C., Schneider, J.A., Tanguay, D.A. et al. 2001. Haplotype variation and linkage disequilibrium in 313 human genes. Science 293(5529):489-493."

USA Today Genome guide is next goal
"Until recently, scientists had hoped to predict a person's response to medicines and find disease-causing genes by analyzing specific gene variations, called single nucleotide polymorphisms, or SNPs. But the vast number of SNPs in the human genome would make this costly and laborious.

But new research indicates that SNPs actually travel together from one generation to the next in strands called haplotypes, Collins says.

Creating a haplotype map, he says, would greatly simplify the process of analyzing an individual's risk of disease and response to certain drugs. "The whole Human Genome Project has been a prelude to this," says Eric Lander of MIT, a leader of the publicly funded project."

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“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.”

BIOINFORMATICS IN THE 21st CENTURY

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