Chordoma Foundation

Researcher Profiles

CF funding helps scientist apply her breakthrough discovery to the origins of chordoma

Dr. Cheryle Séguin never planned on studying cancer. “I’m a developmental biologist, not a cancer researcher,” says Séguin, who studies spine development at the Schulich School of Medicine & Dentistry at Western University in Ontario, Canada. But that changed when Dr. Séguin made a breakthrough that unintentionally provided the missing link researchers needed to study the genesis of chordoma.

After years of work, Dr. Séguin and her colleagues succeeded in developing a one-of-a-kind genetically engineered mouse that enables researchers to observe and manipulate the mouse’s notochord. The notochord is important because during development it gives rise to the intervertebral disc, the degeneration of which is the primary cause of back pain afflicting hundreds of millions of people worldwide. In addition to forming the discs, some notochordal cells get lodged inside the developing vertebrae, and, in about 1 in 5 people, those cells form small benign tumors inside the spine. Occasionally, these benign notochordal cell tumors turn malignant and become a cancer known as chordoma.

Little is known about what causes notochordal cells to turn into chordoma, but now Dr. Séguin’s mouse makes it possible to study that transformation. With a $25,000 seed grant from the Chordoma Foundation Dr. Séguin is isolating notochordal cells from her mice and attempting to turn them into a cell line – a constantly dividing family of cells grown in a petri-dish. Creating a notochordal cell line will give scientists a blank slate upon which to introduce genetic changes to see which cause the cells to become cancerous. This could shed light on the cause of chordoma, and, in turn, could point to potential therapies that address the root cause of chordoma.

The Foundation’s grant to Dr. Séguin was made possible by funds raised through the fourth annual Purple Aster Concert, an annual music event in Calgary, Canada, held in memory of chordoma patient Alison Laird. The concert is organized by Alison’s husband, Ian, and friend, Carolyn Harley. Former Chordoma Foundation board member, Dr. Ed Les, also of Calgary, matched donations by concertgoers to fully sponsor the grant.

“I’ve been involved with different foundations and am just astounded and really in awe of what the Chordoma Foundation has been able to do. Seeing people raise funds specifically for our lab just blows me away.”

Everyone working on this project is committed to make a difference for chordoma patients. “We are really excited and really hopeful that we can contribute something back after all the effort that was put in to bringing us on to do this research.”

Teamwork, CF grant help surgeon-scientist speed up testing of promising chordoma therapies

As a neurosurgeon specializing in brain and skull base tumors, nothing frustrates Dr. Gary Gallia more than having to tell patients, “You’ve had surgery and radiation, but unfortunately there’s nothing more we can do when your tumor returns.”

“There are currently no therapies available for many of these rare diseases,” says Gallia, who directs the Johns Hopkins Skull Base Surgery Center and runs a cancer biology laboratory there. “In chordoma, for instance, there are currently no FDA-approved treatments. But there are many diseases that were fatal 50 years ago, that are now curable. I want that to happen for chordoma.”

Armed with a grant from the Chordoma Foundation, Gallia is moving us closer to that outcome. He has developed a novel animal model system for chordoma by directly transferring human tumor cells into mice. Because these tumors are nearly identical to human tumors, researchers can test promising drugs found effective with other cancers “in vivo” to see which ones merit testing in human clinical trials.

In 2011, Gallia’s research sped up significantly, thanks to an encounter he had at the Third International Chordoma Research Workshop organized by the Foundation.

“I presented our animal model at that meeting, and explained that our next step was to identify potential drugs to test for efficacy in chordoma, a process that would take years to complete. As it turned out, National Institutes of Health (NIH) scientists who were also in attendance presented results of their high throughput in vitro drug screening! By collaborating with the NIH and the Chordoma Foundation, we have been able to leap forward many, many years.”

In March 2012, with a $200,000 grant from the Chordoma Foundation, Gallia’s lab began testing 10 FDA-approved drugs identified by the NIH as promising for chordoma; more may follow if funding allows. As soon as this testing is complete, the outcomes will be used to rapidly move the most promising drugs into human trials for chordoma patients.

Gallia has always been fascinated by the brain, and was drawn to study cancer by personal experiences in his family. He met his wife – also a cancer researcher as well as a medical oncologist specializing in lung cancer at Hopkins – when they were both MD/PhD students at Jefferson Medical College.

“Lung cancer and brain cancer are often both fatal. Christine and I have very similar outlooks in that we would like to improve cancer therapies in the hopes of helping patients diagnosed with cancer,” he notes. “We talk a lot about basic science and our research, so it’s very enjoyable for us to be in similar fields.”

Gallia says that the Chordoma Foundation’s success in increasing awareness and funding for chordoma research has enabled him to seek grants from other funders as well – further accelerating efforts to understand and treat this rare disease.

“Chordoma research is where it is today because of the Chordoma Foundation. As we continue to learn more about the tumor biology and as more investigators study it, we will find a cure.”

CF seed grant recipient applies decades of cancer research experience to chordoma

Dr. Soldano FerroneDr. Soldano Ferrone says he doesn’t have many interests besides science, so science is what the long-time cancer researcher talks about at family gatherings. It helps that his son, daughter and son-in-law are all in the medical profession, too. It was over a dinner conversation with his soon-to-be son-in-law, Joseph Schwab, then a spine surgery fellow at Memorial Sloan Kettering Cancer Center, that a research project on chordoma was launched.

“I had recently learned about the Chordoma Foundation’s work. Before that, I didn’t even know what chordoma was, or of the urgent need to find a therapy,” admits Ferrone, who has studied cancer for four decades at a number of prestigious institutions, including his current home at the University of Pittsburgh.

“Joe was studying chordoma, and he described his work. We decided to explore the possibility that chordoma cells express a protein I’ve been working with in other cancers as a target for antibody therapy. That started a collaboration with Joe and his colleagues (he now works in oncology orthopedics at Massachusetts General Hospital) to develop immunotherapy for chordoma by targeting this protein.”

A $25,000 seed grant from the Chordoma Foundation is helping to advance this research. Ferrone and his team are working to identify and destroy stem cells in the chordoma tumor by using antibodies developed by his lab. “By applying to chordoma what I have been doing for many years with melanoma and breast cancer, we can make quicker and more cost-effective progress. This grant is helping us collect data with which we hope to develop a larger project.”

At the CF’s three International Chordoma Research Workshops, Ferrone has had the opportunity to get to know many chordoma patients. These meetings fuel his desire to make a difference, he says. “What makes the Chordoma Foundation’s workshops unique is that you have scientists and patients at the same table. The patients I’ve met are such determined people, and it is a tragedy that we have not been able to solve this problem yet. I would like to help as much as possible.”