[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

     Associated Press

     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."

     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
     see me."

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