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Harvard’s Sabeti parses out age, frequency in mutations

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Pardis Sabeti always meant to go to medical school, but somewhere along the way, she got roped into using population genetics to troll for functional genes. Of course, that development probably had a lot to do with her undergraduate advisor when she was a student at MIT: Eric Lander.

After earning her master’s and PhD-equivalent degrees at Oxford University on a Rhodes scholarship, Sabeti is finally where she intended to be all along: Harvard Medical School, where she’s in her third year and thinking about a specialty in infectious disease. Naturally, she still does research at the Broad (she worked at the Whitehead during her years at MIT), following on her earlier studies of genes under positive selection, through which she has developed a way to interpret the age of those high-frequency alleles.

Her initial work in the field focused on two genes from malaria, and she found that a unique pattern around certain mutations was “a clear signal for this gene having a high frequency and a young age” — contrary to the conventional wisdom that all high-frequency mutations are ancient, says Sabeti, 28. “The way that I’m able to identify the age is very robust,” she adds. “You could apply it to any genome.”

The upshot is a new way to search for functionally relevant genes, Sabeti says, because the genes her method applies to are those that have some kind of biological significance. She’s currently using this to scour the human genome and has “identified four or five genes that are looking like great candidates” for her quest to better understand evolution and disease.

Despite her interest in research, Sabeti fully expects to practice medicine when she’s finished with medical school. Her unique position with feet on both sides of the fence — research and clinical — may give her a much-needed perspective as genomics moves closer to having more of an impact on patients. Sabeti says she believes her experience will help her overcome the hurdle many genomic scientists predict for physicians trying to incorporate genomics into their treatment routines.

Sabeti, who grew up in Orlando and is the lead singer for an alternative rock band, recently won a fellowship offered by cosmetics company L’Oréal to women younger than 35. As a recipient of the For Women in Science award, Sabeti also receives a $20,000 grant.

— Meredith Salisbury

 

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