New Whitehead Fellow on the hunt for rare genetic mutations

August 26, 2010

Tags: Genetics + Genomics

CAMBRIDGE, Mass. – As Whitehead Institute’s newest Fellow, Yaniv Erlich comes to Cambridge in search of needles in very large haystacks.

In Erlich’s case, the needles are rare genetic variants or mutations occurring in individual human genomes. His quest is born of the growing realization that large-scale genome sequencing projects—genome-wide association studies (GWAS)—are failing to pinpoint genetic causes of common diseases. Indeed, mounting evidence suggests that the common genetic mutations that GWASs have surfaced reveal little about disease manifestation and inheritance risk.

It now appears that rare variants are behind many diseases, prompting the development of the so-called common disease-rare variant hypothesis. As the name implies, rare variants are exceedingly difficult to detect, requiring costly, time-consuming whole-genome sequencing of large numbers of genetic samples. Doing so routinely is a highly impractical proposition. That’s where Erlich comes in.

While pursuing his doctorate at Cold Spring Harbor Laboratory, Erlich developed a novel, highly efficient approach to sequencing referred to as compressed genotyping. The method relies heavily on sophisticated mathematical and statistical modeling to extract maximum predictive data from single runs on high-throughput sequencing platforms.

“It combines genetics and computation work to create a very powerful approach to finding rare mutations,” says Erlich, a self-described math lover who insists he came to biology “by accident” as an undergraduate at Tel-Aviv University but “fell in love with it” after two classes.

At Whitehead, Erlich—who says he’s excited about interacting with “such a concentrated core of top-notch scientists”—plans to employ his method not only to identify rare variants but also to determine their effects on phenotype. As part of an overall research plan he’s dubbed “High-throughput Personal Genomics,” Erlich also intends to use compressed genotyping to conduct large-scale screens for carriers of rare Mendelian diseases.

 “The Whitehead Fellows program has launched the careers of some of the most successful young scientists in the country,” says Whitehead Institute Director David Page. “We have every reason to believe Yaniv will add to the program’s storied legacy.”

Owing to a generous gift from longtime Whitehead supporters Andria and Paul Heafy, Erlich will operate his lab officially as the Andria and Paul Heafy Fellow of the Whitehead Institute.

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Yaniv Erlich is a Fellow at Whitehead Institute for Biomedical Research, where his laboratory is located and all his research is conducted.

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