Joslin's Dr. Shuldiner Works with Amish on Diabetes and Genetics Studies
BALTIMORE — October, 1999 — Alan Shuldiner, M.D., has been working with the Amish community in Lancaster County, Pennsylvania, to learn more about the genetic origins of diabetes. Shuldiner, who is Medical Director of the Joslin Center at University of Maryland Medical System and Professor and Head, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, says his work with the Amish began in 1993. The studies grew out of a pilot field project in Lancaster County.
At first, he wasn't sure whether the Amish would be cooperative with these studies. Their cultural and religious beliefs lead them to shun technology and be suspicious of outsiders. However, as it turned out, the Amish received the opportunity to be part of diabetes research and treatment with open arms.
"Only about 200 Amish founders came from Europe to the United States in the early 1700s," Shuldiner notes. "The Amish population has grown to 30,000 in the localized area of Lancaster County. While diabetes does not occur more frequently in the Amish than in other population groups, the Amish are a closed population with a fixed gene pool, have very large families, and essentially complete genealogies dating back 14 generations. It's quite a unique situation to be able to study a specific group of people who have particularly good characteristics for genetic research."
Shuldiner says that the Amish agreed to be involved with this diabetes research for several reasons. The disease is reasonably common, and since the Amish are a very close community, everyone knows of someone with the disease. The Amish have also participated in other studies for a variety of other genetically-related diseases, and are quite educated in genetics, and the role genetics plays in disease in general. And, the Amish are quite altruistic once trust is gained.
"During the past six years, we have recruited 1,400 Amish adult volunteers, who are all from a single family — 14 generations. We have performed glucose tolerance tests and other screening tests to determine who in this extended family has diabetes and who does not," says Shuldiner.
It is known that type 2 diabetes and obesity cluster in families, and heredity is presumed to play a major role in type 2 diabetes and obesity. While specific genes that increase the likelihood that someone will develop diabetes are not yet known, evidence suggests that several genes are likely to make someone more likely to develop diabetes, and research is currently being conducted to identify these genes.
In February, 1995, the Amish Research Clinic was opened in Strasburg, Pennsylvania in the heart of Lancaster County. The Amish Research Clinic is located on the first floor of the Clinic for Special Children, which was built by the Amish and Mennonite community to take care of children with rare genetic diseases. The structure itself is quite unusual, and was constructed in the classic barn-raising style, complete with wooden pegs.
Shuldiner's research has been funded from a variety of sources, including pharmaceutical grants, and grants from the American Diabetes Association (ADA) and the National Institutes of Health. "We have performed extensive searches for diabetes susceptibility genes in the Amish, involving 400 different genetic tests on each of 1000-plus subjects," he says. "We then have to do involved statistical, 'linkage' analyses to try to identify regions of chromosomes that are inherited more often in family members with diabetes than one would expect by chance. Preliminary analyses suggest a handful of regions that may harbor diabetes susceptibility genes," explains Shuldiner.
"It's a tremendously rewarding experience to work with this unique community," comments Shuldiner. "In return, they've gotten a lot back. We have diagnosed many new cases of diabetes, and we have provided follow up education about the disease including diet and exercise programs, and referred patients to local physicians. While the Amish shun many forms of technology, many will agree to use blood glucose monitors. The Amish are a regimented group of people, and they are very conscientious about life-style changes and follow up for treatment."
For more information, contact Joslin's Communications Office at (617) 732-2415.
