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All in the Family

Study establishing the similarity of human populations named 'best paper'


By Alfred Kildow

On December 20, 2003, precisely a year from its publication in the American journal Science, a paper from a young postdoc in the Molecular and Computational Biology group in USC College was chosen as the most important biomedical research paper in the world for the year 2003.

The Lancet, England’s prestigious medical journal, bestowed the honor on Noah A. Rosenberg, who, working with colleagues in many fields, from many institutions, published a paper entitled “Genetic Structure of Human Populations.”

“In working on this project, we were very fortunate to have had access to an excellent collection of genetic samples from around the world,” says Rosenberg.
“Our work is only an initial step toward understanding the relationship between population ancestry and genetic disease,” he says. “We hope that future collaborations can link anthropology and genetics to make advances in medicine.”

Rosenberg expanded on his honored paper in a presentation to the Viterbi Symposium Dec. 16 entitled “Inference of individual ancestry from variable markers in the human genome.”

In choosing the paper, the Lancet commented: “The paper by Rosenberg et al has two messages of utmost importance: one general biological, even humanistic, and one methodological. The general biological lesson is that the overwhelming source of human genetic variation is between individuals and not between ethnic groups. In the paper this becomes even clearer by the finding that there are no absolute genetic differences between ethnic groups: the differences that exist are in relative frequencies only.

“The methodological lesson is that for genetic risk assessment it follows that investigators can use standard epidemiological study designs, provided self-reported ethnic background is taken into account: for such risk assessment one should not worry about ‘genetic admixture.The most enlightening aspect of the paper, however, is the insight that it gives in the ‘genetic structure of human populations’—the very title of the paper.”

The paper also illustrates the changing, interdisciplinary, international nature of science. Rosenberg’s co-authors were from the Department of Human Genetics, University of Chicago; the Center for Medical Genetics, Marshfield Medical Research Foundation, Wisconsin; the Foundation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH), Paris; the Department of Genetics, Yale University School of Medicine; the Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, and the Department of Biological Sciences, Stanford University.

Other nominated papers included the identification of the SARS coronavirus, a vaccine trial of the human papilloma virus and the Million Women Study highlighting the increased risk of breast cancer from combination hormone replacement therapy.Lancet editor Richard Horton said, “No existing prize in science or medicine recognizes the vital importance of multidisciplinary collaboration.

“This is a fatal flaw in, for example, the Nobel [Prize] awards. With this prize, we aim to salute truly first-class advances in thinking or practice which would otherwise go unnoticed by the contemporary establishment of science.”