Teaming Up to Tackle a Deadly Cancer( Dr. Sommer and her son Josh agree. On...),Health

Dr. Sommer and her son Josh agree. On the heels of her son's diagnosis, she began combing the scientific literature. She found a scientist at Massachusetts General Hospital who had published two case reports of patients with tuberous sclerosis who developed chordomas along the spine. Sommer asked the scientist, Vijaya Ramesh Ramesh, whether she thought the genetic mutations on two tumor-suppressor genes linked to tuberous sclerosis could be involved with the development of chordomas.

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.

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 d
'/>"/>