Stanford genome pioneer wins Lemelson-MIT prize

By Toni Clarke

BOSTON | Sun Jun 3, 2012 9:28pm EDT

BOSTON (Reuters) - Stephen Quake, a prolific inventor whose creative application of physics to biology has lead to multiple developments in drug discovery and genome analysis, has won the prestigious $500,000 Lemelson-MIT prize for outstanding innovators.

Quake, a professor of bioengineering and applied physics at Stanford University and investigator at the Howard Hughes Medical Institute, has applied the technological principles of the integrated circuit - a chip made of semiconductor material found in almost every modern electrical device - to biology.

"I get interested in a scientific problem and often find a way to measure the thing I'm interested in," Quake said in an interview. "Often I find the measurement technique has different applications."

Quake developed a chip with miniature pumps and valves that incorporates complex fluid-handling steps to speed genetic research. He co-founded Fluidigm Corp in 1999 to commercialize the technology. The company generated sales of $10.8 million in the first quarter of 2012.

In 2009, Quake made headlines when he sequenced his own genome for under $50,000 using a single machine, helping usher in an era of personalized medicine in which an individual's genetic information can guide diagnosis and treatment.

The information from his own genome revealed Quake had a genetic mutation that places him at increased risk of cardiomyopathy, a disease that weakens and enlarges the heart muscles. As a result, Quake is monitored by a cardiologist.

Earlier this year, Ion Torrent, a division of Life Technologies Corp, said it had begun taking orders for a tabletop machine that is able to sequence an individual's genome for less than $1,000, placing such a test within reach of the average patient.

Quake's innovations have been used to help determine the structure of proteins, including those involved in the Ebola virus and the H5N1 influenza virus, and are used by drug companies and research organizations to study, among other things, potential drug treatments.

He also developed a non-invasive prenatal diagnostic test for Down Syndrome and co-founded a company, Verinata Health Inc, to develop non-invasive tests to detect fetal chromosomal abnormalities in early pregnancy. Earlier this year the company launched its first product.

Quake is currently focused on better understanding the human immune system. His interest was sparked in part when one of his two children developed food allergies.

"As we started to see doctors we realized a lot is not known about how allergies work and how the immune system gets off track," he said.

Quake received bachelors and masters degrees in mathematics at Stanford University and a doctorate in physics at Oxford University.

He said he will probably put the Lemelson-MIT proceeds "into my kids' college fund."

(Reporting By Toni Clarke; Editing by Tim Dobbyn)

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