A doctor’s journey from medicine to genetics
Translational research is often viewed as driving discoveries from the bench to the bedside. But in the case of Elizabeth Engle, MD, senior associate in Neurology, Ophthalmology and Medicine at Children’s Hospital Boston, the opposite is true. Engle’s career path took a deliberate turn from clinical neurology to genetics as she pursued the underlying causes of a rare disorder.
Engle’s story begins in 1992, when as a senior neurological resident at Children’s she encountered a toddler who, after much consultation, was diagnosed with congenital fibrosis of the extraocular muscles (CFEOM). CFEOM’s name came from the common belief that the disorder, a rare oculomotility condition wherein the eyes are fixed downwardly, was caused by fibrosis of the extraocular muscles. But Engle dug deeper.
Engle theorized that CFEOM was caused by errors in brain development, not muscular fibrosis. To prove this, she needed training in neurogenetics to map and identify the genetic underpinnings of CFEOM, which is transmitted by an autosomal dominant trait. She joined the laboratories of Louis Kunkel, PhD, director of genomics at Children’s, and Alan Beggs, PhD, now the director of The Manton Center for Orphan Disease Research at Children’s.
"I had to train every step of the way," says Engle. "It’s a constant learning process."
Since treating the first CFEOM patient, Engle’s lab has revolutionized thinking about this disorder and other forms of ocular fibrosis. CFEOM and similar syndromes even have a new name—congenital cranial dysinnervation disorders (CCDDs)—to reflect Engle’s research supporting the theory that CCDDs result from errors in the development of cranial nerves. Engle’s team continues to characterize CCDDs and keep pushing to the next question.