Patient-Led Research



Josh Sommer

By Rachel Reiff Ellis

During his freshman year at Duke University, a persistent headache sent Josh Sommer on a diagnostic journey. The reveal: a tumor right below his pituitary gland in front of his brainstem. Called a chordoma, this slow-growing, malignant sarcoma of the bone and soft tissue is extremely rare, affecting only 1 in 100,000 people. 

During his 5-week recovery period after successful surgery to remove the tumor, Sommer pored over medical literature about his condition online from his hospital bed. 

"I just became hungry to learn anything I could — both about what might come next for me and also what research was being done to understand what makes this disease tick," he says. 

As he read through the sparse studies for his rare disease, Sommer made a remarkable discovery: a Duke connection. Michael J. Kelley, MD, a medical oncologist at Duke Cancer Institute, was also a co-author of a paper on the genetics of chordoma. 

When he returned to Duke for his sophomore year, Sommer sought out Kelley to volunteer in his lab. The work was energizing, rewarding — and eye-opening. 

Kelley had never worked alongside anyone with the disease he was studying. "It was paradigm-shifting, in that here you had someone who didn't have any expertise in the area but was affected by the disease and committed to having an impact," he says.

Over time, Sommer became intimately familiar with the hurdles and limitations of studying a rare disease.

John Sommer Family

Josh Sommer, far right, with wife, Rachel Lichte, and kids.

"I recognized that moving the needle would require more expertise from lots of different labs, and eventually companies, to solve these problems on a larger scale," he says.

During this period, Sommer joined an online support group of other chordoma patients and family members who were also motivated to improve the outlook for the disease. Together they brainstormed the idea for the Chordoma Foundation

"It was apparent that there needed to be an entity that could harness the passions and motivations of the patient community and channel that to create an ecosystem that makes it possible for researchers who are interested to work on this disease," Sommer says. 

So the foundation set out to bring researchers together and put an infrastructure in place to make it possible to do meaningful research. 

Since the foundation's formation 16 years ago, 11 new chordoma therapies have entered clinical trials through its support. The organization has also secured over $20 million in research investments, helped more than 300 researchers work together, screened 6,000 drugs against chordoma cell lines, and provided free, personalized support for over 3,000 families. 

"Josh is a convener and inquisitor," Kelley says. "He's not just bringing researchers together as a matchmaker. He's actually getting them to interact. He understands what's being presented and how it fits together because he's talked to us." 

Before the Chordoma Foundation, clinical trials for chordoma treatments were scarce, but the pace is picking up. In 2022, there were three new clinical trials, and more are in the works for the upcoming year.

"Now, any researcher whose expertise or interests intersect with chordoma can ask a question and we can help get it answered," Sommer says.


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