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{bio,medical} informatics

Thursday, October 12, 2000

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"An effort to analyze the specific gene variations of three ethnic groups has begun at a national science institute in England.

The Sanger Centre in Cambridge will undertake the project using 400,000 new tests for genetic variations. The researchers hope to determine the medical significance of genetic variations in black Americans, white Americans and Asian Americans."

""The Sanger Centre is creating a high-density SNP map as a reference tool to help scientists pinpoint genetic differences that predispose some but not others to disease, so that diagnostics and drugs can be tailored to patients' genetic profiles," said Dr. David Bentley, head of human genetics at the Sanger Centre, in a statement."
redux [08.23.00]
The New York Times Do Races Differ? Not Really, DNA Shows
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"Scientists have long suspected that the racial categories recognized by society are not reflected on the genetic level.

But the more closely that researchers examine the human genome -- the complement of genetic material encased in the heart of almost every cell of the body -- the more most of them are convinced that the standard labels used to distinguish people by "race" have little or no biological meaning.""

"Through transglobal sampling of neutral genetic markers -- stretches of genetic material that do not help create the body's functioning proteins but instead are composed of so-called junk DNA -- researchers have found that, on average, 88 percent to 90 percent of the differences between people occur within their local populations, while only about 10 percent to 12 percent of the differences distinguish one population, or race, from another.

To put it another way, the citizens of any given village in the world, whether in Scotland or Tanzania, hold 90 percent of the genetic variability that humanity has to offer."

""Ethnicity is a broad concept that encompasses both genetics and culture," Dr. Anand said. "Thinking about ethnicity is a way to bring together questions of a person's biology, lifestyle, diet, rather than just focusing on race. Ethnicity is about phenotype and genotype, and, if you define the terms of your study, it allows you to look at differences between groups in a valid way."

redux [08.01.00]
GeneLetter Inequalities and individualized medicine
"Over the next few years a number of competing groups - my own company, Sequenom, among them -- will sort through the diverse genetic material of the human species to find those variations called single nucleotide polymorphisms (SNPs, pronounced SNIPS) that predispose individuals to major clinical disorders."

“At present the overwhelming bulk of the effort to identify these natural variations is in the private sector. This is inevitable because SNPs that associate with major diseases are patentable, by traditional standards."

"Whatever ensues, it is clear that the rate of discovery of medically important SNPs and their conversion into clinically useful tools will not progress equally fast or uniformly for all segments of mankind."

"It will be easier to discover medically important SNPs in geographically isolated and inbred populations in which good familial records and where migration has not introduced confounding genetic variation. Iceland and Finland are strong early candidates."

redux [07.17.00]
GeneLetter Drawing DNA lines of ethnicity
"The idea of using genetics to determine ethnic heritage has been growing in popularity over recent years. When Rick Kittles, a geneticist at Howard University, offered to trace tribal roots via a $350 DNA test, African Americans flooded his telephone line with requests.

"Even if an identifying marker shows up, the result isn't necessarily definitive. While certain markers may be more common to one ethnic group, most also can be found in other populations as well.

"Because of the tremendous genetic variation within populations, it would be biologically impossible to settle on a limited number of genetic markers that could define "Native Americans," says Morris Foster, an anthropologist at the University of Oklahoma who has wrestled with the risks faced by Indian tribes interested in genetic research.

Furthermore, Foster added in an e-mail interview with GeneLetter, "it is absurd to try to define what is essentially a social identity by using biological characteristics. This, though, is how racism has historically worked."

[ 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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