In January 2006, when Josh Sommer was still an aspiring environmental engineering student at Duke University on winter break, he began experiencing debilitating headaches out of nowhere. Though he felt fine and was an otherwise healthy 18-year-old, an MRI would soon reveal he had a slow-growing tumor pressed against his brainstem and wrapped around several major arteries.
Later that year, Sommer travelled to Pittsburgh to undergo a complicated 10-hour operation to remove the growth. Only after the surgery did his doctor make an official diagnosis: chordoma, a malignant form of bone cancer so rare it occurs in just one out of every one million people.
Chordoma arises when a leftover cell from the notochord, the embryonic precursor to the spinal cord, changes over time and becomes cancerous. Chordomas typically develop at the base of the skull, the lower spine, or the tailbone and often invade the surrounding bone and tissue.
For the 300 people in the United States diagnosed with the disease each year, surgery to remove the chordoma, often in combination with radiation, is the best shot at treating the disease. Unfortunately, the proximity of most chordomas to vital structures in the nervous system makes them difficult to remove without serious, sometimes debilitating, complications.
Making matters worse, removing a chordoma in its entirety—if possible—does not guarantee it will not grow back. “It’s not uncommon for a patient to have five, 10, sometimes 15 surgeries to keep removing the tumor until that’s no longer possible,” said Sommer.
He spent much of his recovery reading as much as he could about the disease, and was devastated to learn that that if his chordoma were to recur, another risky surgery and radiation was his only option.
“There were no drugs approved to treat the disease and, at the time, none in clinical trials either,” he said. With such limited treatment options, most chordoma patients are expected to live an average of seven years after their diagnoses—a statistic he "refused to accept."
By the time Sommer returned to school in the fall, he was determined to do whatever he could to try to change his prognosis. For him, that meant working in the country’s only federally-funded laboratory focused on chordoma—serendipitously located at Duke, in a building Sommer had biked past countless times on his way to class. “I had no experience, but a lot of motivation,” Sommer said.
“From the beginning, he was shooting really high: a cure for chordoma, and he was approaching that in a very rational, tactical way,” said Michael Kelley, an oncologist and associate professor of medicine at Duke, whose lab was leading the effort.
Under Kelley’s mentorship, Sommer joined the lab’s ongoing efforts to identify genes linked to chordoma. Soon after, Sommer was running his own experiments. He began taking fewer engineering classes and more microbiology classes to better understand the disease.
But despite his deepening understanding of chordoma and the progress they were making—Kelley’s lab was pivotal in elucidating the role of a gene called brachyury in the development of chordoma—Sommer was disheartened by the challenges in studying such a rare disease in a research environment in which progress moved at a glacial pace.
“I could see we would only get so far without hitting a wall,” he said.
Money was a major issue. Government agencies tend to fund research that will have the biggest effect across the population, so common cancers—breast cancer, prostate cancer, and so on—usually receive the most funding. Similarly, pharmaceutical companies and biotech firms tend to fund research only if it is likely to be profitable.
Insufficient funding was only one of many challenges. “We didn’t have materials needed to study the disease,” Sommer says. Most chordomas were thrown away after surgery, so tissue samples needed to understand the fundamental biology of the disease were scarce. Cell lines—models of disease made by taking cells from a patient’s tumor and growing it in a plastic dish—were just as hard to come by. Both were needed to understand chordoma at its most basic level and to identify drugs most likely to be effective in patients. “Many researchers’ attempts to study the disease were hamstrung, while others were deterred from undertaking chordoma research projects altogether,” he said.
Perhaps most problematic, though, was the lack of a community and the basic infrastructure to support collaboration. “In science, one discovery informs the next. That was not happening in chordoma.”