School Notes: School of Medicine
May/June 2010

A landmark for personalized medicine

Yale researchers have applied new technology to diagnose and recommend therapy for a rare intestinal disorder in a seriously ill baby half a world away—in Turkey. After obtaining samples of the baby’s DNA from Turkish doctors, Richard Lifton, chair and Sterling Professor of Genetics, and colleagues at the new Yale Center for Genome Analysis (YCGA) used an emerging technique to quickly and completely map the “exome,” those regions of the boy’s genome that contain protein-coding genes and their associated regulatory sequences. In just ten days, the team was able to determine that the baby harbored a rare mutation in an intestinal protein which causes congenital chloride diarrhea, a disorder in which the gastrointestinal tract fails to properly absorb chloride and water. Armed with this information, the baby’s doctors were able to tailor a successful treatment program. The feat was a landmark in personal genetics, marking the first time that a patient has been diagnosed and treated based on a comprehensive genetic scan.

Appreciating RNA in a whole new way

Once upon a time, biology textbooks pigeonholed RNA as a mere middleman between DNA and proteins in cells. But more recently, it has become clear that RNA can play far more complex roles. In the December 3, 2009, issue of Nature, scientists in the laboratory of Ronald Breaker, the Henry Ford II Professor of Molecular, Cellular, and Developmental Biology, describe a slew of previously unknown RNA-based structures that may carry out complex biochemical functions. Scientists in Breaker’s lab report in detail on two large, intricate structures built entirely of RNA in bacteria. One, GOLLD, appears to help viruses that infect bacteria to burst out of infected cells so that they can seek new targets. Another, HEARO, might be a mobile genetic element that causes spontaneous genetic change. Breaker says the research helps us come to grips with how cells such as our own really function. “Every time we feel as though we’re giving RNA just about the right amount of credit,” he says, “we find more amazing RNAs.”

Yale Cancer Center director is named inaugural Sackler Professor

Thomas Lynch Jr. ’82, ’86MD, has been named the Richard Sackler and Jonathan Sackler Professor of Medicine and Yale Cancer Center Director. Lynch, who joined the Yale faculty in 2009, is also physician-in-chief at Smilow Cancer Hospital. An authority on lung cancer, Lynch is renowned for his research on the relationship between genetic variations and the effectiveness of cancer therapies. Richard Sackler and his brother, Jonathan Sackler, joined forces in 2009 to create a $3 million endowment establishing the new professorship.