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Roots of disease may vary with ancestry, according to Stanford geneticist

In case you missed it, Stanford geneticist and MacArthur fellow Carlos Bustamante, PhD, is quoted in yesterday's New York Times regarding his work on understanding patterns of genetic variation among human populations. Working on what's known as the 1,000 Genomes Project, Bustamante and his collaborators found that many rare genetic variations (that is, those that occur infrequently in the general population) are geographically unique. Says reporter Nicholas Wade:

The project is not yet complete, but a team led by Simon Gravel and Carlos D. Bustamante of Stanford University has analyzed the data so far available and predicts the rare variants will be found to be almost entirely different in the Chinese, European and African populations. This means that almost all of the rare variants developed after the three populations had split apart.

Therefore, Wade explains:

The common variations in the human genome were mostly present in the ancestral human population in Africa and have been inherited by all the descendant populations around the world. The rare variants occurred more recently.

The finding may mean that the specific, rare genetic changes that underlie common human diseases may vary among distinct populations, and could make the emerging specialty of personalized genomics and risk prediction much more tricky. Says Bustamante:

We need to broaden representation in human genetics research and ensure that we provide opportunities for a broad spectrum of humanity to benefit. That means we need to engage communities about the benefits of participating and that we should not assume that what is learned in one group will clearly translate to another. Clearly, common and rare genetic variants, both those private to a population and those shared, are going to be important contributors to disease risk.  What our work speaks to is the importance of collecting genetic data across multiple groups and looking directly for how often different categories of mutations are shared. That is what's really powerful about a project like the 1000 Genomes Project. It puts the data out in the public domain for any investigator to analyze. We are huge proponents of this kind of research and public resource and are happy to be part of this project as it extends out to many diverse populations.

Previously: Shh, it's a secret: Carlos Bustamante discusses his genius award, Hispanic and Latino genetic background diverse, yet telling, and Mexican-American, African-American genomes sequenced
Photo by United Nations Photo


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