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Old July 9th, 2005 #8
lawrence dennis
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Default 'Gene hunters flock to Amish country'

Gene hunters flock to Amish country

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Wednesday, July 6, 2005

STRASBURG, Pa. — Smack dab in the middle of a central Pennsylvanian cornfield, in the heart of an Amish culture that typically shuns technology, sits a marvel of genetic medicine and science. The building itself, a tidy clapboard structure, was raised by hand, rope and horse in the Amish way 16 years ago. Upstairs, is the Clinic for Special Children. Downstairs houses the Amish Research Clinic.

The clinic has played a role in numerous significant discoveries by expert gene hunters, from diabetes breakthroughs to unlocking some of the mysteries behind sudden infant death syndrome.

The gene hunters, who come from far and wide, spend countless hours rooting through a rich genetic trove that only an insular genetic pool like the Amish can offer.

To the Amish, many of whom travel the few dozen miles or so from their homes by horse and buggy, the clinic has been heaven sent. It very often saves their children, who are disproportionately afflicted by rare and sometimes fatal genetic-based diseases because of 200 years of inbreeding.

"It's weird and it's wonderful," said Terry Sharrer, medical curator of the Smithsonian Institution in Washington D.C. "I have never seen anything like this."

The children's clinic is the creation and life's work of Dr. Holmes Morton and his wife Caroline. The Harvard-educated couple surprised colleagues and friends in 1987 when they announced they were giving up prestigious urban posts in Philadelphia, packing up the family and starting a new life among the Amish and Mennonite religious sects.

It's a place where the laundry of plain clothes flaps in the breeze and barefoot children in smocks and straw hats run around homes shared and passed down by multiple generations. Road signs warn drivers to share the road with the horses and buggies.

Morton hasn't regretted the move.

"We discover a new gene almost weekly," he said.

Isolated populations with homogenous genes such as the Amish in central Pennsylvania, the Ashkenazi Jews and Indian tribes offer genetic researchers unparalleled insight into disease and genetics.

These closed populations, whether by geography or religion, were created by just a few families — called the "founder effect" — and built on generations of inbreeding.

The Amish have higher rates of inherited disease caused by bad, recessive genes that are diluted in the general population but remain captive in closed societies. That increases the odds that distant relatives that are each carriers of a rare disorder will marry and produce afflicted children.

Since the human genome was mapped five years ago, the genetic discoveries are coming fast and furious in Strasburg.

The advent of the increasingly powerful gene chips, which enable researchers to experiment with thousands of genes simultaneously, have also advanced Morton's work.

Morton estimates that he's uncovered about 150 genes implicated in various diseases, most of them found in the last few years.

Last year he found a gene implicated in sudden infant death syndrome.

He's also uncovered a genetic cause for the malady maple syrup urine disease, so-called because the victim's urine is sweet smelling. It's a rare enzyme deficiency that if left untreated, as it was for many years in the Amish community, will lead to mental retardation. Through a severe diet that excludes meat, eggs and milk — and constant vigilance — Morton can keep the disease in check.

Much of Morton's funding is raised by community auctions that sell quilts, furniture and baked goods made and donated by the Amish.

Downstairs, Dr. Alan Shuldiner and his colleagues at the Amish Research Clinic are armed with $10-million (U.S.) in National Institutes of Health grants to conduct a dozen different large-scale studies of the Amish, including diabetes, heart and longevity studies.

Shuldiner, also a researcher at the University of Maryland School of Medicine, says his lab has drawn the blood of 3,000 of the 30,000 Amish who live in the area.

Shuldiner opened his lab in 1995 after spending a year working out of his car. He initially befriended an Amish woman who had children with diabetes. She served as his liaison to a community skittish of outsiders. When he moved into the special children's building, he said his credibility among the Amish was cemented.

"This building is really a pillar of the Amish community," he said.

Mary Morrisey, a nurse in Shuldiner's lab, spends most days whipping around the back roads of Lancaster County in her minivan on a mission to enroll 1,000 Amish. The aim is to uncover genetic causes of heart disease. In two years, the lab has enrolled nearly 600 volunteers — a testament to how massive the undertaking is.

On Wednesday, Morrisey spent two hours at the kitchen table of one family's house, drawing blood and explaining the intricacies of the study to the pair, who are in their mid-60s who have nine children and 54 grandchildren.

The screen door was constantly slamming as barefoot kids frolicked about the house, the younger ones fretting about needles being stuck into their grandparents' arms. Grandma soothingly reassured them in the Pennsylvania Dutch they use with each other.

For a Luddite community that by and large quits school after the eighth grade, the Amish are well-informed about the technological breakthroughs their blood contains.

They view their participation with the "English" scientists as in keeping with the tenets of their branch of Christianity, which demands they help their fellow man.

"I wouldn't know why not," the woman responded when Morrisey asked her to join the study. "It could help our family — and help others." ...
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