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 while cancer risk is increased, by how much is still unknown.
The DBA Registry of North America was established in 1993 by Adrianna Vlachos, MD, associate section head of stem cell transplantation at SCH, and Dr. Lipton. Dr. Vlachos will continue to direct the registry, while Dr. Lipton will oversee the new funding. The registry contains medical information on DBA patients, obtained with the proper consent, and its expansion will help facilitate research into the biology and characterization of the disease, better match patients with research studies, provide access to research studies for patients, provide research results to patients, and serve as a resource to DBA patients and their doctors to guide diagnostic, therapeutic and reproductive decisions.
"The children will lead" is the message that resounded with Drs. Vlachos and Lipton. While childhood diseases were once considered to hold little relevance to adult medicine, researchers are now learning otherwise. To illustrate, Dr. Vlachos cited how researchers have already discovered a genetic link between another rare childhood disease, Fanconi anemia, and the BRCA1 genetic mutations that can cause breast cancer later in life.
"The detailed clinical information available through the DBA registry will allow researchers to gain important insights into cancer risk and birth defects. Knowledge gained from studying the biology of this disorder will unquestionably help countless people who are affected by cancer or birth defects each year," said Dr. Lipton. Several birth defects are associated with DBA, including short stature, abnormal thumbs, cleft palates and other skeletal defects, heart defects, kidney abnormalities and others.
With treatment, many individuals with DBA live long, active lives, and some even experience prolonged remissions during which no treatment is required. More severe cases can be fatal. The research at SCH will help doctors to better understand, prevent and treat this enigmatic disease.
About Schneider Children's Hospital
Located in New Hyde Park, NY, Schneider Children's Hospital is a 154-bed full service acute, medical, surgical, dental and psychiatric hospital within the North Shore-Long Island Jewish (LIJ) Health System that provides care for neonates, infants, children and adolescents in all disciplines, from common childhood diseases to serious illnesses such as cancer and heart disease. The North Shore-LIJ Health System is the nation's third largest non-profit, secular healthcare system that includes 16 hospitals, four long-term care facilities, a medical research institute, three trauma centers, six home health agencies and dozens of outpatient centers.