Elizabeth Engle waited in study participants' driveways until midnight to enroll them in her genetics studies of eye disorders. She didn't want to miss any opportunity to get closer to a culprit gene.

Engle saw the case as a chance to put fledgling genetic technologies to the test and track down the gene that caused the disorder. She didn't consider it a problem that she had no idea how to do the required experiments, or that she knew nothing about the eye disorder; she viewed it as a learning opportunity. That mindset has characterized Engle's career.

"Elizabeth had a fire in her belly to really do research," says Alan Beggs, an early mentor of Engle's.

		Highways to the Eye Explore the molecular details of one eye disorder.

That 1992 encounter with the young boy at Children's Hospital Boston led pediatrician and neurologist Engle to become a scientist who follows the trail of her research wherever it takes her: genetics, developmental biology, neuroscience, cell signaling. She's discovered how a class of rare eye disorders, including the one affecting the boy, are caused by mishaps in the development of the nervous system, and she's linked specific gene mutations to seven of the disorders.

At each fork in the road, she chooses the gutsiest way forward, the path she hasn't traveled before. The course of her career has been as complex and circuitous as that of the developing neurons she studies. Now, she's closer than ever to her final destination: complete understanding of the disorders.

The Brain's Intricacies

Science wasn't always forefront in Engle's mind. She grew up in Columbus, Ohio, devoting her spare time to playing the cello. Then, in junior high school, she met a teacher who took students on annual treks to the Bahamas to study marine biology.

"My parents are both academics, and I learned early on that they would support my interests if they viewed them as educational," says Engle, "and I thought this was the perfect way to go on a cool trip." She got more than just a tan, it turned out. She got hooked on marine biology and returned to the Bahamas throughout high school. "I could spend hours snorkeling over the Andros Barrier Reef watching fish dart among coral, or floating in a mangrove ecosystem watching crabs move about," she says.

But Engle's interests evolved as a freshman at Vermont's Middlebury College when she enrolled in a genetics course because she couldn't get into her desired geology class. She found herself addicted to the testable hypotheses that genetics presented. "I loved to ask questions when I knew there was a real foundation for an answer and an organized way of getting there," she says. As her interests in the cello and marine biology faded, Engle got a job as an undergraduate research assistant in a bacterial genetics lab at Middlebury and then debated her next step. She was interested in both research and patient care. She chose to go to medical school, figuring that would leave both doors open.

At the Johns Hopkins University School of Medicine, Engle's first anatomy class sparked another new interest: the brain. "I hadn't thought much about how the brain was put together prior to med school," she says. "To suddenly look at this puzzle that is the brain, with its precise tracts and complicated anatomy, was so fascinating."

With her overflowing interests, Engle chose to do two residencies—one in pediatrics at Hopkins and a second in neurology at Children's Hospital Boston. She spent a gap year between them in a fellowship in neuropathology—that is, autopsies of the brain—at Boston's Massachusetts General Hospital.

"I had this need to know what a diseased organ looks like, feels like, smells like," Engle says. "To really get to know what a disease is, I felt it was necessary to look at it grossly and microscopically, and to put my hands on it." Though she's no longer elbow deep in body parts, Engle has an innate need to understand what makes the body tick.

Under the tutelage of E.P. Richardson, whom Engle calls "one of the great fathers of neuropathology," she learned her way around a pathology lab. She spent her days looking at brains, cutting them up, preparing samples, and looking at them under a two-headed microscope with Richardson. She grew to know, and love, the intricacies of the brain. It's an experience that few neurologists get now, Engle says, since MRI technology has become the go-to way to understand neuroanatomy and diagnose neurological diseases.

Photo: Jeff Barnett-Winsby

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