Ethylin Wang Jabs combines laboratory research with clinical practice at Mount Sinai Health Systems in New York.

For nearly 25 years, Ethylin Wang Jabs ’74 has been a mutation hunter. Her ultimate goal? To improve life for the hundreds of children born each year with facial deformities, by finding genetic causes and developing drugs for prevention and treatment.

Through tens of thousands of hours in the lab, Jabs has helped identify the genetic variants that are responsible for a number of rare craniofacial disorders. She and her colleagues have spotted the genes that underlie oculodentodigital dysplasia (a syndrome characterized by small teeth, small eyes, and a fusion of the fourth and fifth fingers); Miller syndrome (a condition marked by sunken cheeks, an underdeveloped lower jaw, and often a cleft palate); and keratitis-ichthyosis-deafness syndrome. Her studies have pointed the way toward new avenues for prevention and treatment—and they have also shed light on fundamental molecular pathways that govern embryonic development.

Since 2007, Jabs has pursued this work at the Mount Sinai Health Systems in New York, where she is a professor of genetics and genomic sciences. Before then, however, she had spent her entire career at Johns Hopkins. Indeed, she was steeped in the culture of Hopkins from early childhood. Her father, Shih Yi Wang, was a professor of photochemistry at Hopkins’ School of Public Health. Jabs entered Hopkins in the fall of 1970, as part of the first class that included women.

“I felt accepted in every way,” she says. “This may not have been every woman’s experience that year, but there was no one discouraging me. I felt like I had every opportunity in front of me.”

Jabs initially planned to major in mathematics but soon found her interest turning toward medicine. At the end of her sophomore year, she was accepted into what was then known as the two-and-five system, which allowed students to earn a bachelor’s and then a medical degree (from the School of Medicine) within a single seven-year program.

“People in my family had been PhD scientists, but there were no physicians,” she says. “I had no real idea of what it meant to be a doctor until I went down this path.”

Somewhat to her surprise, Jabs discovered that she loved the daily rhythm of clinical work: getting to know patients, comforting family members, explaining complex medical conditions in plain language. At the same time, however, she found that she loved doing basic science in genetics laboratories. After completing her residency in pediatrics at Johns Hopkins Hospital, she did a fellowship in the laboratory of Barbara R. Migeon, a pioneering medical geneticist who has taught at Hopkins since 1962.

“Ethylin was very aggressive in the lab—and I mean that in the best possible way,” recalls Migeon. “She defined her scientific problems and went right after them. She didn’t worry about boundaries. If she read that some lab in England or France had done something interesting, she’d get on the phone and ask them about their work.”

By the end of her fellowship, Jabs found a way to marry her laboratory work with her love of the clinic: She decided to work with children with craniosynostosis, cleft palate, and other craniofacial disorders. Those syndromes sometimes have environmental causes related to fetal exposures to toxins, but many of them are caused by discrete, rare mutations.

“I loved working with those patients,” she says. “I slowly collected a biobank of DNA samples, and once that was in place, we were able to isolate a number of genes.” By the mid-1990s, Jabs had become one of the most prominent scholars in the field, and the Hopkins Center for Craniofacial Development and Disorders had become one of the best-known treatment sites.

“I’m so appreciative that I’ve been able to be a part of this work,” Jabs says. “When you’re in the middle of it, you’re working so hard that you can’t actually relish the moment until much later on.”

Today in New York, Jabs is as busy as ever. Her lab at Mount Sinai is collaborating with researchers at the National Institutes of Health on genetic studies of Moebius syndrome, a rare condition in which infants are born with no ability to move their facial muscles. She is also doing studies on mice to assess the potential of certain drug compounds to prevent and treat craniofacial disorders.

Jabs is married to Douglas Jabs, an ophthalmologist whom she met when both were medical students at Hopkins. Their daughter, Alexandra Jabs ’11, is now a student at the Bloomberg School of Public Health, where her grandfather once taught.

“I’ve been very lucky to have been able to be at the beginning of things,” Jabs says. “When I was a student at Hopkins, genetics was a small discipline, full of patients with rare diseases. But now genomics is embedded in every single medical discipline. It’s everything.”