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NIH funds rare childhood disease to provide insights into the origins of adult cancer

NEW HYDE PARK, NY - U.S. Rep. Carolyn McCarthy earlier this week joined with researchers, patients and supporters of Schneider Children's Hospital (SCH) to announce the awarding of a $1 million National Institutes of Health (NIH) grant to expand research into a rare blood disease called Diamond Blackfan anemia (DBA), which researchers have found to be associated with an increased risk of cancer and a high rate of birth defects.

The five-year grant from the NIH's National Heart, Lung and Blood Institute will be used to broaden the DBA Registry of North America, which hospital researchers created a decade ago to gain greater insight into the disease. Usually starting within the first two months of life, DBA is a genetic blood disorder of unknown origin that has been diagnosed in only about 1,000 people worldwide. Through the registry, researchers have already discovered that about 50 percent of DBA patients have at least one birth defect and that there is an increased risk for cancer later in life.

"While Diamond Blackfan anemia is rare, it carries an increased risk for some cancers, giving us a new approach for examining the origins of cancer susceptibility," said Jeffrey M. Lipton, MD, PhD, the lead investigator on the grant, chief of SCH's Division of Hematology-Oncology and Stem Cell Transplantation and an investigator at the Institute for Medical Research at North Shore-LIJ. The new grant will also fund research into the connection between DBA, cancer and birth defects.

Typically diagnosed in infancy, DBA is an inherited blood disorder that prevents the bone marrow from producing sufficient red blood cells, which carry oxygen to all tissues in the body. Those red blood cells that are produced are often large in size and do not function properly. All other blood cells -- white blood cells and platelets -- are usually normal. As with any rare disease, there are gaps in the understanding of the natural history of this disorder. And whil
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Contact: Christina Verni
cverni@nshs.edu
516-562-1232
North Shore-Long Island Jewish (LIJ) Health System
27-Oct-2004


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