Johns Hopkins Children’s Center has received a nearly $5 million grant from the National Heart, Lung and Blood Institute to establish a basic and translational research center that will consolidate research, treatment and care of adult and pediatric patients under one roof and speed up the translation of scientific discovery from bench to bedside. In addition, the center will offer counseling and education services to patients and their families.
Sickle cell disease is an inherited blood disorder marked by a mutation in the hemoglobin genes. The defect causes abnormal crescent-shaped red blood cells that give the disorder its name. The sickle-shaped cells get stuck in blood vessels, leading to excruciating painful strokes and organ damage. Sickle cell anemia affects nearly 72,000 Americans, primarily African Americans.
“This center will be a marriage of all aspects of science and treatment, from basic science and clinical research to patient care and public health research, all part of the quest to treat and ultimately cure sickle cell disease,” says lead investigator James F. Casella, M.D., Rainey Professor and chief of Pediatric Hematology at Hopkins Children’s.
By drawing on the expertise of researchers from diverse areas, the center’s faculty and staff expects to advance promising therapies more rapidly. For example, a basic-science project led by Allen Everett, M.D., a pediatric cardiologist at Hopkins Children’s, will use the science of proteomics, the study of proteins, to look for biomarkers involved in silent strokes – a leading cause of neurologic complications in sickle cell patients. Discoveries in this area will ultimately lead to better understanding, earlier diagnosis, treatment and prevention of neurovascular problems in sickle cell patients.
On the public health end of the spectrum, researchers from the Johns Hopkins Bloomberg School of Public Health, led by Cynthia Minkovitz, M.D., M. P. P., will examine how local public health services affect disease course and survival, and then pinpoint public health measures that will help eliminate state-to-state disparities in patient outcomes.
The translational arm of the center, led by urologist Arthur Burnett, M.D., will help take lab discoveries to the patient’s bedside. For example, scientists will study the role of nitric oxide in sickle cell priapism, long-lasting painful erections that are a common complication of the disease. Researchers will then examine whether certain medications that affect nitric oxide levels might reduce and prevent this dreaded complication, which often requires treatment at the emergency room or hospitalization.
The center will also support a faculty scholar in sickle cell disease and a summer program in sickle cell disease research for high school students.
Other partners on the grant include the University of Alabama, which, like Hopkins, has a long history of sickle cell disease research and care.
In February, The Johns Hopkins Hospital opened an urgent care center that specializes in treating sickle cell patients experiencing acute pain. In 2000, Hopkins opened an adult sickle cell disease center that focuses on chronic care.