Of trust and science

Yearslong study of the Amish has given a UM researcher medical insight and a unique role in their tight-knit realm

April 05, 2009|By Stephanie Desmon | Stephanie Desmon,stephanie.desmon@baltsun.com

LANCASTER, Pa. -On a recent morning they knocked on Mary Ann Stoltzfus' door, the research nurse and her Amish helper, just as they have on so many doors over the years. They didn't call ahead - most Amish don't have telephones. They tracked down Stoltzfus the old-fashioned way: They asked her mother-in-law for the address when they ran into her.

There were consent forms to sign, nosy medical questions to ask. The pair turned Stoltzfus' kitchen into a makeshift doctor's office, where nurse Theresa Roomet drew five vials of blood as the 40-year-old mother of six rested her elbow on the lacy tablecloth.

What began as one Maryland doctor's desire to learn more about the genetics of diabetes has, more than 15 years later, turned into a major medical enterprise with many millions of research dollars, findings published in major scientific journals and studies of diseases from obesity to osteoporosis in the Old Order Amish of Lancaster County.

In the name of cutting-edge genetic medicine, Dr. Alan Shuldiner of the University of Maryland slowly won the trust of the Amish community, a group leery of outsiders. He has persuaded more than 4,000 of them to be pricked, prodded and scanned, to eat low-salt diets or drink high-fat milkshakes.

"More times than not," Shuldiner said, "they're willing to participate in our research. We have become more and more demanding over time. And every time, the Amish have risen to the occasion."

The Old Order Amish of Lancaster County are considered ideal for genetic research because their gene pool is small, coming from a limited number of founders who arrived from Europe in the 18th century and have lived essentially the same lifestyle since.

Scientists like Shuldiner say the isolation of this 30,000-member community creates a powerful means for scientists to find the genes that lead to common diseases. With just 50 or so sets of chromosomes passed down from generation to generation for the past 14, the search for mutant genes that lead to disease can be simplified, and patterns that would be lost amid the genetic noise stand out.

His research doesn't yield information that is just of interest to the Amish. Shuldiner said he hopes his findings on heart disease, high blood pressure and the blood-thinner Plavix can be translated to the rest of the population - the "English," as the Amish call those not part of their community.

"The genetic problems that are studied here are just genetic problems that came from Europe 300 years ago," said Dr. D. Holmes Morton, whose Clinic for Special Children in nearby Strasburg has treated Amish children with rare genetic disorders for two decades. "Ultimately, the Amish people are interesting not because they're different from us. They are us," Morton said.

Among the findings of Shuldiner and his colleagues:

* A gene mutation in about 5 percent of the Amish slows down the breakup of triglycerides in the blood and appears to help prevent cardiovascular disease. Researchers hope they can create a drug that will mimic the mutation by more quickly moving fat out of the arteries and into the muscle and liver for absorption.

* A gene mutation that may cause the kidneys to retain more salt appears to raise blood pressure. Researchers found the mutation by analyzing the DNA of 542 members of the Amish community. They now estimate that 20 percent of Caucasians in general have this variant. The findings could eventually be helpful in treating hypertension.

* The obesity-causing effects of a gene called FTO can be overridden by high levels of physical activity, like that of the Amish. That suggests that even a person born with a susceptibility to obesity may be able to stay at a healthy weight.

And the nurses keep hitting the road to recruit people for new research, much of it funded by grants from the National Institutes of Health. Mary Ann Stoltzfus, for example, is one of more than 1,000 Amish women enrolled in a study of the genetics of breast density, a risk factor for breast cancer.

Shuldiner, 52, was not the first researcher to study the Amish. He got his entree into the community through the late Dr. Victor McKusick, the famed Johns Hopkins genetic scientist who studied the Amish 50 years ago.

Many others have come to study them since, taking blood samples and then not being heard from again. But Shuldiner came in 1993 and stayed, spending the first year driving around the county before dawn in his hatchback, collecting samples that he would painstakingly store in dry ice for transport back to Baltimore.

Now he runs the freestanding Amish Research Clinic, with ultrasound machines and heart monitors inside and hitching posts outside for horses and buggies. He employs several nurses; each time one knocks at a door to recruit the next patient, she has an Amish liaison at her side whose presence amounts to an Amish seal of approval for Shuldiner's work. He has no plans to retire, but says when the time comes, many members of his multidisciplinary team could carry on.

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