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
Contact: Christina Verni
North Shore-Long Island Jewish (LIJ) Health System