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Startling studies of Amish genetics may lead to treatments and cures for a myriad of medical maladies

Mar 10, 2015 02:04PM ● By Cate Reynolds
By Kathleen Jepsen

A drive from Maryland to the Amish communities in Pennsylvania can be awe-inspiring. Acres of carefully plowed fields, dotted with white farmhouses, stretch to the horizon. Children dressed in colorful blouses and black aprons perform their chores, and men in straw hats steer horse-drawn buggies along the winding roads.

The medical discoveries taking place within this serene setting are equally awe-inspiring. In recent years, the community has been in the forefront of genetic research and discovery. Long a magnet for tourists, the Amish have attracted a new following—gene hunters.

Over the last twenty years, Maryland gene hunters have made the most of this opportunity. In 2010, a team of geneticists from the University of Maryland isolated a common gene variant that predicts the effectiveness of the common anti-platelet medication clopidogrel (Plavix). According to the University of Maryland website, UMD researchers among the Amish have also “discovered a novel gene mutation that …significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.” Coleen M. Damcott Ph.D., UMD co-author of a recent study that identified a mutation in a fat-storage gene linked to type 2 diabetes, notes that Amish research has made a significant contribution to “the growing list of insights gained from genomic studies that can be used to develop new treatments and customize existing treatments for type 2 diabetes and related metabolic disorders.” Just this past November, Johns Hopkins University announced that researchers working with the Old Order Amish had completed a study that suggests a genetic link in how effective zinc supplements are in controlling diabetes.

Amish and Mennonite communities, known as Anabaptists (adult-baptized), are descended from the same group of 18th century European immigrants. They are self-sufficient and self-isolating sects with minimal genetic flow, generally marrying within their religious communities. Such a limited gene pool makes them more susceptible to genetic disorders, and particularly viable as subjects of genetic research.

The epicenter of this research is the Clinic for Special Children (CSC) in Strasburg, Pennsylvania, founded by Dr. Holmes. In 1989, Morton, a former professor of pediatrics at Johns Hopkins University working as a Children’s Hospital of Philadelphia researcher, analyzed a urine sample of a six-year-old child who had been diagnosed with cerebral palsy. But, unlike most cerebral palsy, his symptoms had not appeared at birth. The child, from Lancaster County, tested positive for GA1, a rare enzyme deficiency. Intrigued, Morton visited the child’s community and tested other children with “Amish Cerebral Palsy.” He discovered more than two-dozen cases of the metabolic disorder GA1, and he also discovered his destiny.

Holmes Morton may have envisioned the long-term gains, but initially he was determined to create better lives for the children of Lancaster County. Accompanied by his JHU mentor, geneticist Richard Kelley, Ph.D., Morton and his wife packed up their belongings and moved to Strasburg. They purchased some non-tillable land and, with the help of Amish builders, in one day raised a structure that would serve as a clinic. They dedicated the Clinic for Special Children as “a medical home where children can receive needed care in an accessible, comfortable, informed environment.”

Ricki Lewis, a genetics specialist writing for PLoS ONE, characterized their progress. “GA1 didn’t stand a chance against Dr. Morton and his colleagues,” she wrote. “They described the cases in a paper, identified the gene, and introduced the dietary treatment they invented that balances two types of amino acids to counteract the metabolic glitch of the disease.” Morton and Kelley applied this same strategy to other Amish-centric maladies, including the often fatal Maple Syrup Urine Disease (MSUD), an inability to break down amino acids that can lead to brain damage and coma (so-named because babies’ diapers smelled like maple syrup), and propionic acidemia (PA) which causes a toxic buildup of organic acids in the body that can manifest in heart abnormalities, seizure, and death.

Over the years, CSC has treated more than 2,500 patients with 150 different disorders. Historically, Amish and Mennonite families do not carry insurance and live far from metropolitan health centers. CSC, a registered non-profit that relies on donations, grants, and proceeds from quilt auctions, has provided life-saving and affordable care for entire families dealing with genetic misfortune. Early diagnosis and intervention are the keys that allow the children in these families to avoid early mortality and to live more normal lives.

While CSC has provided hope and cure for the children of Lancaster County, it has also produced tremendous insight into the role of genetics in metabolic disorders. The ground floor of the clinic has long served as a laboratory to identify the genetic mutations that exist within the community. Because of the lab’s connection to the humanitarian work of Dr. Morton, the normally reticent population has responded positively to researchers.

Dr. Alan R. Shuldiner, M.D., a former associate professor at Johns Hopkins and current Director of Personalized and Genetic Medicine at the University of Maryland School of Medicine, has completed numerous studies of the Old Order Amish there, looking for genetic links to diabetes, hypertension, coronary heart disease and osteoporosis. Shuldiner and his colleagues have drawn blood from more than 3,000 of the 30,000 area residents. A freezer there contains 8,000 DNA samples that might facilitate future insight and discoveries. One Amish woman, asked about volunteering her blood, said she saw it as an example of her Christian principles, “I wouldn’t know why not. It could help our family—and help others.”

Every day, work that unlocks the secrets in our genes is happening among the Plain People, among their perfect rows of crops, among their white houses, among their beautiful children.

What’s Up? does not give medical advice. This material is simply a discussion of current information, trends, and topics. Please seek the advice of a physician before making any changes to your lifestyle or routine.