September 2009--A nurse in the pediatric intensive care unit at The Johns Hopkins Hospital hovers over a patient whose blank stare and jerking limbs command attention. Monitoring the teen’s vital signs, the nurse eyes new visitors to the room, asking:
“From what service?”
Valle, director of the McKusick-Nathans Institute of Genetic Medicine, is making rounds with Abdallah F. Elias, M.D., a 39-year-old clinician-researcher who’s new to the Johns Hopkins genetic medicine clinical residency program.
The attending and the resident physician question the nurse about blood sugar and sodium levels. Then they head into the hallway to discuss the history of this patient. Her acute illness is linked to a chronic condition, a rare and progressive neurodegenerative disorder characterized by strokelike episodes and caused by a genetic mutation.
Those with inherited disorders, unidentified anomalies and rare syndromes have long sought diagnoses and treatments at Johns Hopkins, the home of medical genetics pioneers like Barton Childs, M.D., Emeritus Professor of Pediatrics, and the late Victor McKusick M.D. It’s the unique mix of interesting patients and smart researchers and clinicians combined with a long, rich history that makes Hopkins special, says Ronald Cohn, M.D., Ph.D., an alum of the combined pediatrics-genetic medicine residency who now directs the medical genetics residency program: “There’s probably nowhere else that has this tradition.”
Cohn and Adel Gilbert, co-director of the postdoctoral clinical genetics training program, oversee a multifaceted program in which 10 physicians are currently enrolled.
“Our goal is to create academic physician-scientists,” says Gilbert. “We’re trying to propagate mentors and leaders who go to academic centers where they will benefit the field overall.”
The program offers combinations of genetic medicine with pediatrics, maternal-fetal medicine and internal medicine.
“The great thing about the genetic medicine residents is that they tie us to other programs,” Valle says. “They essentially serve as bridges with pediatrics, medicine, and gynecology and obstetrics.”
Elias, a native of Germany, left a faculty position in family medicine at a hospital in the Midwest, uprooting his wife and two children and taking a substantial pay cut when he began his residency here in East Baltimore on July 1. It’s worth the sacrifices, he says, because genetics recently has taken on an added dimension: “Genetics has a much more ubiquitous significance in the practice of general medicine. Medical genetics is changing dramatically to include a genomic perspective that basically regards every disease as part of a genetic state.”
The research opportunities and hands-on hospital training offered here are designed to prepare genetics medicine residents in the lab and the clinic to deal not only with single gene defects but also complex diseases such as diabetes, cancer and hypertension.
“The attending physicians from whom I’m learning see themselves as primary care providers for a certain population that is not well understood by others practicing clinical medicine,” Elias says. “I like this diversification of genetic medicine, this inherent lack of boundaries.”
Elias views Valle as the embodiment of this new strain of geneticist who thinks of himself as generalist; one who takes care of everything—all the usual primary physician stuff—in special populations of patients with genetic disorders. Having significant clinical responsibilities on the ward is just a part of the equation, however. Research is another. Elias arrives here with considerable research background in infectious disease—specifically, the molecular genetics of Lyme disease. He hopes to have the opportunity to initiate the kind of translational research that he’s most passionate about: genetic epidemiology. He dreams of launching a population-based study that includes large-scale genome sequencing to look at infections that occur in the population.
“What drew me to this program was a warm atmosphere in which very astute people are accessible and open to ideas,” Elias says. “People here are aware of and support the different strengths that individuals can contribute.”
The senior resident in the program, Hilary Vernon, M.D., Ph.D., has focused on biochemical genetics during her time here. At 33, Vernon is the mother of three children, ages 7, 3, and 4 months, two of whom were born during her combined residency in pediatrics and genetics. She’s now in her fifth and final year of residency, the one that’s dedicated to research.
“I’m most interested in inborn errors of metabolism,” she says. “What I would like to do is see problems in the clinic and translate them—to to take a disease, look at its pathway in the lab, figure out a molecular way to deal with that pathway, and bring it back to the patient.”
If there’s a common denominator among the genetics residents here, it may be a love of solving puzzles.
“A geneticist is someone who is fascinated by trying to figure out why something is happening at this point in time to this person but not that person,” says Cohn. “These questions apply to your patients with multiple congenital anomalies and inborn errors of metabolism, as well as the one on the intensive care floor with some weird sort of encephalitis. That is what draws people into genetics; that and the unbelievable future we have ahead of us. Barton Childs once said, ‘Genetic knowledge is one day going to hit us like a monsoon. You may as well be ready for it.’”
--by Maryalice Yakutchik