In the spring of 2006, Josh Sommer was busy making a college career out of mold. After he and his mother were sickened by mold in their home while he was in high school, he'd come to Duke to work in an engineering lab, so that he could develop a new mold-detection device. He hoped to spend the summer conducting epidemiological studies in Greenville, North Carolina.
But plans change. That May, Sommer, then a freshman, had a tumor removed from the base of his skull. The diagnosis: chordoma, a rare bone cancer. (As far as he knows, it is not related to the mold.) Sommer read all he could about the disease, and what he read was not encouraging. Only 300 cases of chordoma are diagnosed in the U.S. each year. The average person survives seven years after being diagnosed. Because chordoma is so rare, little research has been done on it, and there are very few treatment options available.
Sommer and his physician mother, Simone, set about to change that. Sommer's first step was to volunteer in the lab of Michael Kelley, associate professor of oncology and, at the time, the only researcher in the world receiving funding from the National Institutes of Health to study chordoma. There, the engineering major got a "crash course in molecular biology," then quickly went to work analyzing genomic data.
At the same time, he and his mother began approaching surgeons and medical researchers who had worked on chordoma. They all said the same thing: They needed access to tissue samples, funding, and more collaboration.
Last spring, the Sommers started the Chordoma Foundation in an effort to meet those needs. They've taken some novel approaches. The dearth of research on chordoma means that even its most basic molecular genetics have not been fully characterized. If a scholar at a research institution were to do this, his work would likely be off-limits to other researchers for two years as he sought to publish it. So the Sommers farmed this work out to a private research-and-development company that can do the work quickly and make the results available immediately.
They've also approached researchers who work on similar diseases and enlisted them to add chordoma to their trials. For example, working in Kelley's lab, Sommer identified one gene that was expressed to a high degree in chordoma. He read a paper that said the gene was also expressed in leukemia, so he convinced the leukemia researcher, who was developing a vaccine to target the gene, to test it on chordoma, too.
Last year, with only three months of planning, the foundation sponsored a workshop that brought together more than fifty A-list researchers from a variety of backgrounds to discuss chordoma and lay a roadmap for future studies. At a second workshop, slated for this April, the Sommers hope to announce the results of the leukemia vaccine trials and also the creation of the world's first chordoma tissue bank.
The foundation also serves patients. Sommer says he believes that just getting patients to the right doctors in a timely fashion could extend the survival average from seven to ten years, no research necessary. Now a junior, Sommer isn't taking any classes this semester. He's working for the foundation as part of the DukeEngage program. He's always taking calls, making calls, sitting in on meetings, conducting research. Time is of the essence.
"Josh Sommer, mold-prevention advocate": Update
April 1, 2008