2009 Pew Biomedical Scholar Charles Mullighan Helps Identify Mutations Linked to Brain Tumors
"The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes a high toll on patients. Researchers also found evidence the tumors are susceptible to drugs already in development.
The study focused on a family of brain tumors known as low-grade gliomas (LGGs). These slow-growing cancers are found in about 700 children annually in the U.S., making them the most common childhood tumors of the brain and spinal cord. For patients whose tumors cannot be surgically removed, the long-term outlook remains bleak due to complications from the disease and its ongoing treatment. Nationwide, surgery alone cures only about one-third of patients.
Using whole genome sequencing, researchers identified genetic alterations in two genes that occurred almost exclusively in a subtype of LGG termed diffuse LGG. This subtype cannot be cured surgically because the tumor cells invade the healthy brain. Together, the mutations accounted for 53 percent of the diffuse LGG in this study. Researchers also demonstrated that one of the mutations, which had not previously been linked to brain tumors, caused tumors when introduced into the glial brain cells of mice.
The findings appear in the April 14 advance online edition of the scientific journal Nature Genetics.
...
The other authors are Gang Wu, Ruth Tatevossian, James Dalton, Bo Tang, Wilda Orisme, Chandanamali Punchihewa, Ibrahim Qaddoumi, Frederick Boop, Matthew Parker, Ryan Lee, Robert Huether, Xiang Chen, Erin Hedlund, Panduka Nagahawatte, Michael Rusch, Kristy Boggs, Jinjun Cheng, Jared Becksfort, Jing Ma, Guangchun Song, Yongjin Li, Lei Wei, Jianmin Wang, Sheila Shurtleff, John Easton, David Zhao, Bhavin Vadodaria, Heather Mulder, Chunlao Tang, Charles Mullighan, Amar Gajjar, Richard Kriwacki, Richard Gilbertson, James Downing and Suzanne Baker, all of St. Jude; Claudia Miller, formerly of St. Jude; Charles Lu, Cyriac Kandoth, Li Ding, Robert Fulton, Lucinda Fulton, David Dooling, Kerri Ochoa and Elaine Mardis, all of Washington University; and Denise Sheer of Queen Mary University of London."
- Date added:
- Apr 14, 2013
- Project:
- Pew Scholars Program in the Biomedical Sciences
- Topic:
- Biomedical Research
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