Jay J. Schnitzer, MD, PhD
In popular culture, doctors are often depicted a bit like cowboys—fiercely independent people who follow their instincts and tackle problems on their own.
The reality of practicing medicine is quite different, of course. This is especially true when it comes to caring for children born with congenital abnormalities. About 150,000 children are born in the United States each year with heart and lung defects, spina bifida and other skeletal malformations, and metabolic disorders. Initial medical care and surgery is usually followed by years of care by multiple specialists to address subsequent problems that emerge as the child grows.
That’s why a team approach is vital, says Jay J. Schnitzer, MD, PhD, a pediatric surgeon at MassGeneral Hospital for Children. “We treat children with the most complex problems, and caring for them requires a multidisciplinary approach,” he says. “So we engage multiple experts who can bring different skills and perspectives to bear on a problem.” The pediatric surgical team at MassGeneral Hospital for Children includes an impressive array of caregivers. In fact, so many disciplines are represented, it is impossible to list them all. The surgical team includes cardiac surgeons, epilepsy surgeons, general and thoracic surgeons, neurosurgeons, oral and maxillofacial surgeons, orthopedic surgeons, plastic and reconstructive surgeons, and transplant surgeons. To provide multidisciplinary care to young patients, surgeons collaborate with specialists in pediatric anesthesiology, intensive care, radiology, dentistry, intestinal rehabilitation, trauma, urology, and pain treatment, as well as nurses, respiratory therapists, physical and occupational therapists—and others, as needed. “We offer the entire spectrum of care,” says Dr. Schnitzer. “There are very few institutions in the world that have all the capabilities that we do under one roof.”
Same problem, different perspectives
Teamwork is also important when it comes to finding innovative ways to improve care, says Dr. Schnitzer. “The ideal approach is to have people collaborating on the same problem, but from different perspectives.” As a Massachusetts General Hospital “site miner” for the Center for the Integration of Medicine and Innovative Technology (CIMIT), Dr. Schnitzer is committed to fostering such collaborations.
Initiated in 1994 at Massachusetts General Hospital, CIMIT is a unique consortium that now also includes Massachusetts Institute of Technology, Draper Laboratories, Brigham and Women’s Hospital, Beth-Israel/Deaconess Medical Center, Children’s Hospital Boston, and Newton-Wellesley Hospital. Led by Mass General’s John Parrish, MD, CIMIT brings together, encourages and supports teams of experts from different fields to develop and implement innovative technologies and approaches to improve patient care and outcomes.
“When people hear the term ‘site miner,’ they think of someone wearing a hard hat,” jokes Dr. Schnitzer. In reality, the job involves building alliances rather than buildings. Dr. Schnitzer talks with fellow physicians who have unsolved clinical problems and/or great ideas to improve treatments, and then fosters collaborations with other physicians, engineers and business people, who work together to find new approaches. “It’s a matter of getting the right people together, and then finding the money and support to enable them to explore ideas and come up with new solutions,” he explains.
Congenital diaphragmatic hernia
One collaborative effort that is now under way at Massachusetts General is focused on improving the outlook for infants born with congenital diaphragmatic hernia (CDH). This is a condition in which a hole in the diaphragm fails to close during fetal development, allowing the intestines and sometimes other abdominal organs to migrate into the chest cavity. The disorder is life-threatening, mainly because newborns with CDH have small, underdeveloped lungs, although it is not clear why. “Despite many major advances in the surgery and intensive care of infants with CDH, the mortality from this malformation remains as high as sixty percent,” says Dr. Schnitzer.
To help improve the odds, Dr. Schnitzer and his colleagues at Mass General are collaborating in an ambitious effort to determine why pulmonary hypoplasia develops in CDH, and how to prevent it. “One theory about CDH, the one you usually hear about, is that the intestines move up and prevent normal lung growth,” says Dr. Schnitzer. “But a second theory, the one that we favor, is that there is some kind of biological and developmental problem that accounts both for the hole in the diaphragm and the underdeveloped lungs.”
A team of researchers at Massachusetts General are searching for the genes that cause CDH. Patricia K. Donahoe, MD, director of the Pediatric Surgical Research Laboratories, heads the research effort to identify genetic mutations in families with CDH. Other researchers are focusing on evolutionarily conserved genes important in lung development in different species. Lizbeth A. Perkins, PhD, is leading a laboratory conducting experiments in Drosophila. Drucilla J. Roberts, MD, heads a team working with avian models, and Dr. Schnitzer leads a group working with rodents.
“The ultimate goal is to identify specific genetic and molecular targets that could be used to develop treatments in utero,” says Dr. Schnitzer. In that respect, CDH provides a model disease to better understand the types of developmental errors that contribute to other types of congenital abnormalities. “We hope this effort will provide a prototype approach that can be adapted for use in other disorders.” Already the team has been asked to participate in a brainstorming forum at CIMIT—to share ideas about how technology can improve the search for candidate genes and in utero therapies.
“The final frontier in pediatrics is developmental biology,” says Dr. Schnitzer. “Massachusetts General Hospital and CIMIT are fostering the teamwork and providing access to technology so that we can become applied developmental biologists, finding entirely new ways to correct congenital anomalies and improve children’s lives.”
Jay J. Schnitzer, MD, PhD, has been a pediatric surgeon at Massachusetts General Hospital since 1992. He is also an associate professor of surgery at Harvard Medical School. His commitment to the broader community of medicine extends beyond his activities with the Center for the Integration of Medicine and Innovative Technology (CIMIT). Certified in advanced burn support, he is on the surgical staff at Boston Shriners Hospital. As a member of the Boston Disaster Medical Assistance Team and the International Medical Surgical Response Team, he served in New York City after the 2001 terrorist attacks, and in Iran following the 2003 Bam earthquake.
