Pediatric medicine is the medicine of the future, offering opportunities to unlock the mysteries of adult diseases by curing the afflictions of our youngest patients. By learning, for example, how to cure heart disease in children, it may be possible to prevent heart disease in adults.
Research under way at the Johns Hopkins Children’s Center promises progress against pediatric heart disease, cystic fibrosis and other pulmonary disorders, childhood cancers, emotional and neurological disorders, sickle cell anemia and other blood disorders, and many other diseases that strike children.
Imagine a not-so-distant future when scientists will take the next great leap along the path of discovery and actually correct a genetic defect in a developing fetus, preventing disease before a child is born. This extraordinary step is just around the corner. Genetic research and new technologies will allow pediatricians to predict and begin early treatment of common childhood disorders such as heart, lung and kidney diseases and cancer. By looking at each child as a unique individual, with a unique genetic makeup, living in and influenced by a unique environment, Hopkins scientists will literally be able to predict, and through treatment prevent, adult onset diseases, such as schizophrenia, hypertension and coronary artery disease.
These are not pie-in-the-sky predictions. Simply consider the following the last generation of highlights of Hopkins pediatric breakthroughs:
1982 - A new prenatal test to detect sickle cell anemia is developed in collaboration with pediatric geneticists at Harvard.
1982 - Pediatric cardiologists pioneer balloon valvuloplasty, a procedure to treat a birth defect in which blood flow from the heart to the lungs is blocked.
1983 - Pediatric geneticists develop a method for identifying the genetic defect responsible for the blood disorder beta-thalassemia. The work serves as a basis for characterizing other single-gene disorders.
1990 - The first effective drug (hydroxyurea) for prevention of the painful crises of sickle cell disease is developed.
1991 - Researchers identify the genes responsible for the most common cranio-facial disorders.
1999 - Researchers discover the molecular basis of "cardiac stunning," the sudden heart failure that strikes almost all children who are placed on heart/lung bypass during open heart surgery.
2000 - Researchers discover a new family of genes that contributes to the process of malignancy, shedding new light on the causes of an aggressive childhood cancer, Burkitt's lymphoma.
2004 - Researchers discover a genetic defect associated with surfactant deficiency, a severe and often fatal newborn lung disease.
An expanded Pediatric Clinical Research Unit in Hopkins’ new $165 million Children’s and Maternal Hospital will have more space for cutting-edge investigations, such as ongoing gene therapy trials for cystic fibrosis (CF) patients and the Infant Pulmonary Function Lab, which assesses bone marrow transplant and its effect on the lungs, as well as the effects of novel CF therapies on infants.
Hopkins pediatric researchers will have bigger and better-equipped facilities, including a genetics core lab, a seven-bed inpatient unit and an outpatient clinic. The research unit will be adjacent to the medical area, providing new opportunities for multidisciplinary collaboration between researchers and clinicians.
The new Children’s and Maternal Hospital will foster increased collaboration between pediatric specialists, particularly interventional and surgical cardiologists. They likely will work side by side in the operating room, using a dual approach, for example, to fix a congenital heart defect in young patients.
State-of-the-art technology will be an integral component of the research unit. “Telemedicine technology” will transmit and apply vital information faster, benefiting not only physicians and their young patients at Hopkins, but medical professionals and sick children around the world.
Combining cardiac genetics and pediatric cardiology in one location also will enable the Division of Pediatric Cardiology to follow pediatric congenital heart patients more efficiently into adulthood, managing their care and preventing future complications that until recently were unknown because most patients died before adulthood.
Pamela L. Zeitlin, M.D., Ph.D. and George J. Dover, M.D. on Pediatrics
