Claim To Fame:
Director, Clinic for Special Children, Strasburg, Pennsylvania
A summer’s drive in rural Pennsylvania changed D. Holmes Morton’s life. Morton ’83, then a genetics fellow at Children’s Hospital in Philadelphia, met an Amish boy with the gene-based disorder glutaric aciduria type 1. When the boy’s parents told him they belonged to a circle of parents whose children were similarly affected, Morton realized the condition, thought to be rare, occurred frequently in the family’s community. “That was June 19, 1988, the day I was led here to do this work,” says Morton. “I spent that summer going from family to family and farm to farm, twenty families in all.” The condition, which arises in infants and is characterized by cerebral-palsy–like movements called dystonia— including spasms and loss of muscle control—is found worldwide in one in 40,000 children. In U.S. Amish communities, however, one in every 400 infants has the disorder; Morton’s clinic has about three new cases each year.
Morton’s commitment to understanding the genetic origins of disease has made him an advocate for expanded newborn screening. The work at his clinic has fueled that effort: Pennsylvania’s program has grown from screening for about six metabolic disorders to testing for more than forty, including several first identified within the Amish and Mennonite communities the clinic serves.
When Morton speaks with young doctors he emphasizes the insight genetics can bring to clinical practice. “If you understand how genetics affects the health of the populations you’re serving,” he says, “your practice will be much more effective and interesting.”
“There’s no question that part of my motivation for doing this work is an interest in the biology of these diseases,” says Morton, “But beyond that, it’s just nice work. In many ways, mine is the life that many doctors once imagined but today seldom find.”