[Paleopsych] AP: Gene hunters flock to Amish country
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Sat Jul 9 15:51:33 UTC 2005
Gene hunters flock to Amish country
By PAUL ELIAS
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
"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
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."
The couple had participated in Shuldiner's initial diabetes study
several years ago.
"I think we're considered vampires," Morrisey joked. "All we want is
their blood. They instinctively roll up their sleeves every time they
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