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A New Take on Retinoblastoma
by Renee Twombly
Basic research findings upend old thoughts on this childhood tumor.
Michael Dyer is the first person to say that his latest finding was a big surprise. “I never, in a million years, would have thought of this gene,” says Dyer, a developmental biologist and HHMI early career scientist. The gene, spleen tyrosine kinase, or SYK, isn’t normally expressed in the eye. Yet, he’s found that it’s a driver for a cancer of the eye called retinoblastoma. When mutations occur in the retinoblastoma (RB1) gene, cells in the retina, the light-sensing part of the eye, become malignant.
The discovery, detailed January 11, 2012, in the online edition of Nature, comes on the heels of his August 16, 2011, paper in Cancer Cell that suggests that retinoblastoma’s origins are different than once thought—less about genomic instability and more about epigenetic reprogramming, a process that modifies gene function without altering DNA. Taken together, his findings are shifting the prevailing view about this rapidly progressing cancer—and offering new treatment targets.
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Scanning the Genome for Retinoblastoma
Michael Dyer talks about the Pediatric Cancer Genome Project and his work on retinoblastoma.
 
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Retinoblastoma Animation
Learn about the cause of retinoblastoma and the science behind Michael Dyer's study.
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His team has already found a drug—in Phase III clinical trials to treat rheumatoid arthritis—that shuts down the kinase encoded by SYK. “It is incredibly effective” at killing retinoblastoma cells in culture, Dyer says, as well as in a unique mouse model of the disease. He hopes to move into Phase I clinical testing in less than a year.
Bridging a Gap
Since his 2002 arrival at St. Jude Children’s Research Hospital in Memphis, Dyer has made it his business to find out everything possible about retinoblastoma, a rare cancer diagnosed in about 250 to 300 U.S. children each year. The disease has historical significance; it is caused by mutations in the first tumor suppressor gene ever discovered, the RB1 gene. Dyer expected to hear about treatment progress as a result of this 1986 discovery, but that wasn’t the case.
Photo: Josh Anderson
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