Science in the Triangle

Josh Sommer was still sitting in his hospital bed when he got an inkling of what he was up against with Chordoma, a rare bone cancer few survive more than 10 years.

He had fired up his laptop and was looking for information about the cancerous growth that surgeons at the University of Pittsburgh Medical Center had removed from the base of his skull two days earlier.

As a Duke University student, Sommer was able to pull up and read research papers published in peer-reviewed medical journals just like Duke researchers and doctors could.

He learned there was no cure for Chordoma, a cancer that is diagnosed in about 300 Americans per year. But he was quickly left wanting for information that didn’t exist.

“Growing up with the Internet and a smart phone, you expect instantaneous information,” said Sommer, 23, who now heads the Chordoma Foundation in Durham.

During the months following the surgery, he realized the research that had been done on Chordoma was spotty and haphazard. Funding to advance the understanding of the cancer’s genetic and biological drivers was minimal, which didn’t bode well for the development of treatment options to surgery, radiation and chemotherapy.

He was able to locate just one medical researcher with a federal grant to study Chordoma, Dr. Michael Kelley, an oncologist who happened to be an associate professor of medicine at Duke.

And he bumped into the pay walls that many peer-reviewed medical journals have erected, restricting online access to full research articles to those who pay for the information.

The pay walls still irk him - as a cancer patient, as a member of a generation that grew up with computers, the Internet, mobile phones, video games and Facebook and as a former engineering student who is familiar with software whose source code is public and can be changed by any programmer.

“The idea of using journal articles as a mode of communication, that was a big idea in the 1660s,” Sommer said. “Now we have iPhones.”

Open-access journals, which publish medical research online and without access fees, are starting to pop up. But established medical journals, descendants of scholarly publications that scientific societies started about 350 years ago, still drive much of the scientific discourse and, as a result, academic careers and research funding.

There was nothing he could do to tear down the pay walls, so Sommer decided to jumpstart Chordoma research another way.

He abandoned plans of becoming an engineer, took cell biology and genetics classes and started working in Kelley’s lab. In February 2007, a year after his diagnosis and the surgery, Sommer and his mother, a family doctor in Greensboro, founded the Chordoma Foundation.

Five years after his diagnosis, he doesn’t know how much time he has left. The cancer remains in remission, but he knows that with each year that passes the likelihood increases that the next biannual MRI scan could detect another tumor.

Listen to Sommer talk about his chances of outrunning Chordoma:

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Disease-focused charities and private foundations like the Chordoma Foundation have long supplemented federal funding for medical research and they are increasingly financing early-stage drug development.

The top 50 private foundations in the U.S. alone spent more than $1 billion on medical research in 2008, according to the latest numbers from the Foundation Center. Not included in those numbers is money from medical research charities like the American Cancer Society, which funded $124 million in research and teaching grants in fiscal year 2007-2008.

The pace of research into Chordoma has picked up in the past three to four years, said Kelley, the Duke oncologist who has studied the cancer for more than a decade.

Some of it is due to new research technologies that became available, he said. But he also credited efforts of the Chordoma Foundation, especially two workshops in 2007 and 2008 that brought together researchers whose expertise in other areas is useful in getting questions about Chordoma answered.

“That’s how science works,” said Kelley, who at both workshops met researchers whose work he didn’t know well. “It doesn’t happen in a vacuum.”

Fifty-three researchers attended the first workshop in 2007 thanks to the help of Dr. Francis Collins, whom Sommer’s mother had met at a gala. After she followed up by e-mail, Collins, who oversaw the International Human Genome Sequencing Consortium before becoming head of the National Institutes of Health in 2009, tapped his network of contacts for the Chordoma Foundation.

The second workshop a year later attracted 85 researchers. A third workshop is planned for March.

For starters, the Chordoma Foundation also offers a wiki on its Web site that’s a publicly accessible database of all published research papers addressing aspects of the cancer. Research news and other foundation updates go out on Sommer’s Twitter account via @sommerjo.

From the more than $1 million in donations it has collected, the Chordoma Foundation has begun to award grants to get research projects off the ground. Some of the money is earmarked to develop resources for researchers, such as tumor cell lines and genetically modified mice or rats that can be used for lab tests.

The largest grant so far, $120,000, went to the Sanger Institute, a British genome research institute primarily funded by the Wellcome Trust. The Sanger Institute was looking into mutations that can lead to cancer and included Chordoma in the project.

Results published last month went counter the textbook model of cancer development that says cells always start to divide uncontrolled after a series of genetic mutations and rearrangements happens one step at a time. The Sanger Institute researchers found that in at least 2 percent to 3 percent of all cancers the mutations and rearrangements all happened in a single catastrophic event. In bone cancers like Chordoma, however, this cellular crisis happens in 25 percent of all cases. (Read the New York Times story about the Sanger’s research results here.)

The discovery adds to what researchers know about Chordoma, Kelley said. “We’re learning more. What we don’t know yet is how to connect what we know with an effective treatment.”