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Human Genome Map's a Wrap: The Duke-Led Effort Could Help Overcome Autism, Some Cancers and Other Ailments

Posted on: Thursday, 18 May 2006, 09:10 CDT

By Catherine Clabby, The News & Observer, Raleigh, N.C.

May 18--In 2003, scientists proclaimed that they had completed the map to the human genome. That was not exactly correct.

Today, led by a Duke University geneticist, researchers are publishing a final installment: a detailed guide to the last and largest human chromosome.

People who have never even peeked into a molecular biology lab might want to take notice. Researchers worldwide predict that a detailed guide to human DNA, and the genes embedded within it, will prompt a revolution in medicine.

In this case, it could help efforts to defeat autism, some cancers, brain tumors and other ailments.

"We've been practicing medicine blindly for the past 2,000 years because we've been ignorant of individuals' genetic constitution," said Dr. James Evans, a medical geneticist at UNC-Chapel Hill whose field depends on reliable genetic information. "Now we can begin to put together the nuts and bolts."

On top of the medical promise, a more precise reading of the final human chromosome should deliver better clues to the ancestry of people. People of African, Asian and Caucasian descent inherit minuscule differences in DNA embedded in the chromosome.

Duke geneticist Simon Gregory led an international team of 150 scientists in deciphering chromosome one, initially at the Wellcome Trust Sanger Institute in England and, more recently, at Duke.

"It's a huge relief. It's effectively 10 years' worth of work," said Gregory, whose results will be published today in the journal Nature and will be available to scientists worldwide for free.

Inside every cell, chromosomes carry lengthy strands of DNA, the inherited material that makes a person a human being. People carry 46 chromosomes grouped in 23 pairs.

Observed by most people only during film clips of cell division in high school biology class, chromosome one was the last to be decoded because it is the largest. Its precise sequencing, which improved upon the 2003 map of the human genome, took longer.

Gregory's team counted 3,141 genes embedded on the chromosome. Mutations in its genes -- as well as missing bits or unnecessary duplications -- already are tied to 35 human ailments, including autism and mental retardation syndromes, prostate and ovarian cancers and brain tumors.

Understanding the precise impairments in a given gene will help researchers understand how illness begins.

One day doctors expect to scan variations in every patient's genetic makeup to determine who is at greatest risk of developing heart disease, cancer or other illnesses, said Evans, the UNC physician and editor of the journal Genetics in Medicine.

They also will be able to better judge which patients will respond well to certain medications or treatments, depending on their genetic profiles.

"This is one more step in defining human beings at the genetic level," Evans said.

But it is not the last step: Gregory calculates his team's work is only 99.4 percent complete.

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Source: The News & Observer

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