A lot of prominent scientists have dreamed of using the genetics revolution to cure or prevent disease. Few have done as much to make that dream a reality as has a gray-haired 55-year-old pediatrician in Strasburg, Pa.
Dr. D. Holmes Morton, with his Harry Potter glasses and walrus mustache, has helped find the altered genes that cause a dozen rare disorders through studies of the traditional Amish and Mennonite communities of Lancaster County, Pa.
At the same time, the country doctor has developed methods for treating or preventing some of these devastating illnesses in the children who ride up to his clapboard clinic in horse-drawn buggies. He has also struggled, meanwhile, to provide treatment at prices that his patients can afford.
This week, Morton, a high school dropout from West Virginia who wound up graduating from Harvard Medical School, was one of 25 recipients of a $500,000 MacArthur Foundation fellowship. The unrestricted grants are awarded each year to innovators in a variety of fields, including science, medicine and the arts.
In between fielding congratulatory phone calls, Morton said that medical research sometimes loses sight of its ultimate aim, curing the suffering of individuals.
"Our goal is to understand the genetic and biochemical basis of these diseases, and use that understanding to better take care of these children," he said. "That should happen all the time in pediatrics and genetics. But it often doesn't happen."
Morton and his wife, Caroline Morton, run the nonprofit Clinic for Special Children in Strasburg, built by volunteer labor on donated land. They treat more than 700 children who suffer from more than 80 genetic disorders. The clinic is supported by modest patient fees, grants and strong support from the Old Order Amish and Old Order Mennonite, collectively called "the Plain People" of Lancaster County.
On Saturday, for example, a crowd estimated at 10,000 people showed up for an auction staged by the Amish on the clinic's behalf. It was one of three similar annual benefit auctions, where items such as handcrafted horse-drawn buggies and quilts go on the auction block. The nine-member clinic staff routinely diagnoses and treats such rare diseases as pretzel syndrome, a malformation of the limbs; maple syrup urine syndrome, an enzyme deficiency that can inflict brain damage; and Crigler-Najjar syndrome, which can cause a fatal concentration of bilirubin in the blood.
Among the genes Morton has helped discover are those that cause McKusick-Kaufman syndrome, which results in the malformation of the heart and limbs, and Amish microcephaly, a fatal condition that causes underdevelopment of the head and brain.
In addition to conducting the routine X-rays and blood tests offered by most physicians, the clinic employs a Ph.D. geneticist who conducts advanced biochemical tests and sequences genes.
Remarkably, the Mortons have employed these sophisticated new tools to treat people who shun telephones and automobiles.
"It has to be regarded as a stunning achievement to take the highest technology available in health care and medical research and apply it to people who are averse to technology," said Dr. Leslie G. Biesecker, a senior investigator with the National Human Genome Research Institute.
Some colleagues say that Morton's greatest achievement has been his success at combining the role as a researcher on the frontier of science with that of a pediatrician striving to help his patients.
Dr. Alan R. Shuldiner, a professor of medicine at the University of Maryland's medical school and a medical school classmate of Morton's, said the MacArthur fellow isn't content to discover new genes.
"He's really passionate about making sure those discoveries translate into improved patient care," Shuldiner said.
A lot of recent research has focused on broadly applicable techniques like gene therapy to repair malfunctioning genes and stem cells to regrow diseased tissues.
Morton has concentrated on disease-specific available treatment strategies. He has used diets, drug or enzyme treatments and surgery, such as liver and bone marrow transplants, to help patients who can't wait for medical breakthroughs.
He discovered, for example, that if children born with the rare genetic disorder glutaric aciduria are treated with glucose and insulin during their first five years, they can escape brain injury.
This sort of retail medicine, he acknowledged, doesn't provide "the magic bullet that everyone wants" to cure genetically linked diseases.
But, he added, "there simply isn't going to be one magic bullet. There will be many, many effective therapies. And in most cases, you won't have to change the genes at all. You just have to intervene to change the disease process."
That doesn't mean that basic lab research hasn't contributed to Morton's work.