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Page: << Prev | 1 | 2 | 3 Ramesh said it was possible but she had no access to chordoma tissue to study the genetic makeup. So Sommer tracked down a pathologist at Harvard University with a large collection of chordoma tissue and the collaboration lead to the discovery that the tumor-suppressor genes were involved in the tumor.
Ramesh presented her findings three weeks after her discovery, at the first International Chordoma Research Workshop, sponsored by the Chordoma Foundation, in 2007. Last year, at the second International Chordoma Research Workshop, five different groups presented new research on the involvement of the so-called mTOR genetic pathway in chordomas. The findings led to a study in Italy treating chordoma patients with a drug called rapamycin that is active in the mTOR pathway. Results published on July 1 in the Annals of Oncology demonstrated that patients benefited significantly from this therapy.
The foundation has also funded the launch of the Chordoma Genome Project to sequence the chordoma genome to identify the mutations that drive the tumor. "This should lead to a lot of answers," Sommer said, adding that the findings will immediately be made available to investigators worldwide.
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The mother-and-son duo also got the ear of geneticist Dr. Francis Collins, who introduced them to scientists at the U.S. National Institutes of Health's Chemical Genomics Center. The center is now testing 3,000 U.S. Food and Drug Administration-approved drugs in chordoma cell lines in an attempt to identify potential treatments, Sommer said.
"Scientists are excited about the prospect of discovering new treatments for chordoma," she said.
And patients like Daniel Alter are hopeful.
Last month, Daniel talked publicly for the first time about his journey since his diagnosis. Until the creation of the foundation, Daniel had only met two young people with the disease. Both have since died.
Daniel's sights are set on the future. And he's hoping that researchers will learn to understand why the bone cancer takes hold and find ways to increase the odds of survival. At the conference in June, he met other patients with chordoma, and told them what he tells himself every day:
"Live your life and don't worry about it."
More information
To learn more, visit the Chordoma Foundation.
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