A number of researchers, including a Duke professor, mapped the final chromosome in the Human Genome Project last week, bringing scientists a giant step closer to curing thousands of diseases.
Members of the United Kingdom's Wellcome Trust Sanger Institute, including Dr. Simon Gregory, assistant professor of physics at Duke, constructed a detailed map of Chromosome 1.
The largest chromosome in the human DNA, Chromosome 1 contains more than 3000 genes and is the site of more than 350 diseases, including cancer and Alzheimer's.
The research will allow scientists to fine-tune a diagnostic that can identify illnesses before symptoms appear and even detect potential diseases in a person-allowing, for example. individuals susceptible to heart disease to eliminate fatty foods from their diet before they even know they have a problem.
Such exacting technology, however, will come at a price. Gregory estimated that the procedure will cost more than $1,000 per gene.
The indeterminate nature of the costly technology could lead to several ethical dilemmas, Gregory observed.
For example, insurance companies could hike up rates or refuse to cover an individual at all if that person is likely to develop a certain disease.
"There's no normal human," Gregory said, noting that a person's DNA tests may not exactly match a lab example of a cancer mutation on a chromosome.
"The environment has a great deal to do with it-it may be someone who has the mutation doesn't develop the disease while someone else gets the chicken pox or a cold and does develop the disease."
In addition, the research is being used to study the genetic differences between racial populations and the concept of "genetic recombination"-the genetic equivalent of the shuffling of a deck of cards and the reason why a person does not look exactly like their parents-Gregory said.
Dr. Mark Walport, director of the Institute, called the project "a vital resource" in the study of health and disease.
"The completion of the project, with the publication of the Chromosome 1 sequence, is a monumental achievement that will benefit the research community for years to come," he said.
The Human Genome Project has been in the news for several years now, most notably in 2003 when the members of the Project announced that they had completed mapping the human genome, Gregory said.
He added that the 2003 project mapped about 90 percent of the genome and, unlike this project, did not break down the content of the chromosomes. The researchers for the Chromosome 1 project literally drew the results on top of the chromosome map to allow scientists to better understand the location of genes responsible for illnesses.
The completion of the painstaking work required the efforts of five main centers and several small labs across the world.
Uncovering the mysteries of Chromosome 1 took the longest time of all the chromosomes that were mapped-10 years.
"There's always been competition to get your chromosome out and published-I actually didn't want it to be last," Gregory said with a laugh. "The guys in the UK have been giving me a ribbing."
Gregory said there is still a lot of research to be done.
"Humans have 24,000 to 25,000 genes and we don't know the function of probably half of those-even if we did we don't know how their proteins relate to one another," he said. "We closed the last chapter on the first volume; the second volume is seeing what the proteins actually do. Not until we find out how the protein actually works can we find a cure."
Gregory estimates the ability to find cures for several diseases will take about 10 to 15 more years, but added that important discoveries are being made every day-as close as two doors down from where he works at Duke's Center for Human Genetics.
"[Fellow Duke scientist] Dr. Michelle Win found a gene on the chromosome for a rare kidney disease-so I don't have to walk very far to see where it is being used," he said.
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