Press Release


Feb. 24, 2012

Understanding the Link Between Leukemia and Children With Down Syndrome

NEW YORK—Scientists funded by the Samuel Waxman Cancer Research Foundation identified a potential explanation as to why children with Down syndrome are at an increased risk for a rare leukemia known as acute megakaryoblastic leukemia (AMKL).

Down syndrome is a genetic condition caused by an extra copy of chromosome 21 in a person's DNA. Down syndrome affects about 1 in 800 newborns a year in the United States and is one of the most common genetic birth defects.

Children with Down syndrome have an increased risk for developing AMKL compared with those children without the condition.

In the March 2012 issue of the Journal of Clinical Investigation, John D. Crispino, Ph.D., of Northwestern University in Chicago, and his colleagues found that a gene known as DYRK1A promotes the disease in mice that have been engineered with Down syndrome. They found that by inhibiting the gene through a drug also stopped the growth of the cancer cells. Their hope is to develop small-molecular inhibitors of the gene as a potential new therapy.

Shai Izraeli, Ph.D., of the Sheba Medical Center, Tel Aviv University in Israel, wrote an accompanying commentary in the Journal of Clinical Investigation.

Both Crispino and Izraeli received funding from the SWCRF to study AMKL.

"The SWCRF has supported the international collaboration between John and Shai to identify the link between children with Down syndrome and leukemia. Their work represents the mission of the Foundation of fostering collaboration to bring bring faster treatments to patients," said Samuel Waxman, M.D., the Founder and Scientific Director. 



About the Samuel Waxman Cancer Research Foundation

The Samuel Waxman Cancer Research Foundation is an international organization dedicated to curing and preventing cancer. The Foundation is a pioneer in cancer research, focusing on uncovering the causes of cancer and reprogramming cancer cells. We dedicate ourselves to delivering tailored, minimally toxic treatments to patients. Our mission is to eradicate cancer by bridging the gap between lab science and the patient. Through our collaborative group of world-class scientists, the Institute Without Walls, investigators share information and tools to speed the pace of cancer research. Since its inception in 1976, the SWCRF has awarded more than $75 million to support the work of nearly 200 researchers across three continents.

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