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Barton Childs MD, legendary geneticist, remembered

Posted Feb 21 2010 12:00am - Barton Childs, M.D., professor emeritus of pediatrics at the Johns Hopkins University School of Medicine, and a legendary geneticist and teacher who influenced the practice of generations of physicians and shaped their understanding of inherited disease, died February 18, 2010 at The Johns Hopkins Hospital after a short illness. He was 93.

“We have lost a giant of his or any generation of medicine,” said Edward D. Miller, M.D., dean and CEO of Johns Hopkins Medicine. “His medical home was at Johns Hopkins, but his influence was worldwide.”

Childs spent nearly 70 years at Johns Hopkins, coming to the Baltimore institutions as a first-year medical student in 1938. He remained active until a few weeks before his death.

The first director of genetics in the Department of Pediatrics at Johns Hopkins, Childs made critical contributions to the understanding of the genetic underpinnings of many diseases, including adrenal hyperplasia, Addison’s disease and hypoparathyroidism. He formulated the now classic study showing the first definitive proof that one of the two X-chromosomes in human females is inactivated during early development, a fundamental biological mechanism. He encouraged many Hopkins colleagues to consider the human diseases they studied in the context of genetics, including prostate cancer, inflammatory bowel disease and dyslexia. And he collaborated with his wife, Ann Pulver, Sc.D., also of Hopkins, in seminal studies of the genetic basis of schizophrenia and other neuropsychiatric diseases.

Colleagues perhaps consider his greatest contribution to be his quest to integrate genetics into all of medicine. Known as a Renaissance man of medicine and an intellectual “Jack of all trades,” Childs published on topics as diverse as cerebral palsy, human development and evolution. And, say those who worked with him, he had an insatiable curiosity about human nature that drove him to study ethical and philosophical questions beyond the field of medicine.

“He was 50 years ahead of his time,” said colleague and former student Ada Hamosh, M.D., a pediatric geneticist at Hopkins Children’s. “Barton Childs was an incomparable pediatrician, a prescient geneticist and a wonderful human being. I will always cherish my memories of his pointed questions, high standards and unique style manifested in his trademark red socks.”

Childs thought deeply about education throughout his career, colleagues said. He proposed new ways of thinking about the origins and consequences of disease, including a new model, the “diseasome,” which defines human disease not as a standalone or isolated set of disorders, but as a complex and intricate interplay of multiple interactions among and between genes and the environment. In his 1999 book Genetic Medicine: A Logic of Disease, Childs proposed a new holistic way of thinking about health and disease, one that takes into consideration each patient’s unique genetic make-up, as well as the environmental and cultural factors that affect the individual.

His book became the basis for the new curriculum at the Johns Hopkins medical school called Genes to Society, which integrates many of his concepts into physician training and was launched a year ago.

“Barton Childs was the rare individual whose brilliance transcended his specialty and reached into philosophy, history of science, and education,” said David Nichols, M.D., professor of anesthesiology and critical care and pediatrics at the Johns Hopkins School of Medicine. “This allowed him to articulate a vision of a new type of medicine and medical education focused on having the physician understand what makes each of us unique as individuals and patients.

“All of us, who admired him so much, are grateful that he lived long enough to see his vision begin to take shape as the intellectual foundation for the Genes to Society curriculum of the Johns Hopkins School of Medicine,” added Nichols, who is vice dean for education at the medical school.

Faculty members at Johns Hopkins recall how Childs taught his students to ponder what he saw as the defining question in medicine: Why does a given person get a particular disease at a particular time? Childs realized that genes are only one piece of a puzzle that also includes in-utero exposures and early childhood development as well as the social and environmental experiences of the individual.

“Dr. Childs believed in nuance and variability from patient to patient and recognized long ago that our emerging understanding of genetics would lead to a new emphasis in medicine where we would be able to treat the individual and not the disease,” said George Dover, M.D., director of the Johns Hopkins Children’s Center.

Barton Childs once wrote that “disease is as much a consequence of variation in our social and cultural organization as biological, and management is best directed to whichever component is most amenable.” This insight shaped not only the modern understanding of medical genetics and human disease but also laid the groundwork for our present-day quest for individualized medicine.

“Barton Childs was one of those people who is constantly seeing things far ahead and just waiting for the rest of us to catch up,” said Charles Wiener, M.D., professor of medicine and director of the residency training program at Johns Hopkins. “He was a relentless advocate for the concept of individualized medicine before it became popularized and even before we had the tools to understand the scientific basis of individuality.”

To many in the younger generations at Johns Hopkins, Childs appeared to be a doctor from a time gone by, sporting an old-fashioned leather bag, a film noir trench coat, and a faintly condescending attitude toward modernity.

Following his retirement in 1981, Childs continued to write, publish and work with fellow researchers. He continued to attend Grand Rounds and pediatric case conferences, during which he challenged medical residents with questions - sometimes peppered with subtle irony - designed as much to educate as to interrogate.

Born February 29, 1916, Childs grew up in Chicago. Barton Childs was adopted, and the absence of family history amused the geneticist in him, he told colleagues.

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