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April 2009 Issue

Cell signaling expert George Thomas, PhD
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UC Discovery May Help Treat Rare Form of Anemia

By Amanda Harper
Published April 2009

UC researchers have identified the specific biological mechanisms believed to lead to a rare and incurable blood disease known as Diamond Blackfan Anemia (DBA).
Scientists say with further investigation, their discoveries could result in drastic changes to current thinking about treatment for this disease and may lead to promising new drug therapies.

George Thomas, PhD, Stefano Fumagalli, PhD, and collaborators report their findings in the April edition of the journal Nature Cell Biology.

DBA is a rare blood disorder characterized by the bone marrow’s failure to produce red blood cells. This failure is due to an intrinsic defect that makes the red blood cells prone to cell death before they mature.

Using a preclinical laboratory model, Thomas’ team was able to explain how cell death occurs in DBA and identified a specific step in the biological chain of events leading to disease onset where targeted medical intervention may effectively slow—or even stop—red blood cell death.

“By understanding the chain of biological events leading to this abnormal cell death and targeting the specific molecular checkpoint that controls cell death, we may be able to develop new drugs that would interrupt or stop the process and allow the body to recover, rebuilding healthy bone marrow,” says Thomas, the John and Gladys Strauss endowed professor of cancer biology at UC and scientific director at UC’s Genome Research Institute.

Fumagalli is a research associate of cancer and cell biology. Read more about this research by visiting

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