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Research Lecturer of the Year: Alan Shuldiner, MD

Alan SchuldinerAlan Shuldiner, MD, a professor in the School of Medicine, knows that the answers to life’s big questions are often found in the small details. The head of the Division of Endocrinology, Diabetes, and Nutrition has spent much of his career trying to identify genes that play a role in obesity and the development of Type 2 diabetes.

“My career-long desire to understand the molecular and cellular basis of Type 2 diabetes and obesity is actually what drew me to the field of genetics,” says Shuldiner, who was appointed director of the Program in Human Genetics in the School of Medicine in August 2005. “With the human genome [the complete genetic content of a human] sequenced—and with powerful molecular and statistical tools—it occurred to me that genetics was the best approach to glean insights into the molecular basis of human disease.”

Shuldiner is well-known in the School of Medicine for establishing the Amish Research Clinic, a research facility in Lancaster County, Pa. Shuldiner studies the Old Order Amish, a socially conservative segment of the Amish Mennonites and a genetically “closed” population whose very similar genes are ideal for studying genetic variations and mutations.

The clinic grew out of Shuldiner’s initiative in 1995, says William L. Henrich, MD, professor and chair of the Department of Medicine in the School of Medicine. “Shuldiner had hypothesized that genetically homogenous populations would provide a unique opportunity to isolate and clone susceptibility genes for Type 2 diabetes and obesity,” says Henrich.

On a shoestring budget, Shuldiner traveled to Lancaster County to recruit volunteers to participate. “He left Baltimore at 4 a.m. so he could be at the doorstep of the home of his Amish volunteers to administer their fasting oral glucose tolerance test,” recalls Henrich. “His ‘clinical research center,’ was in the trunk of his Honda Accord, which was equipped with a gas-driven electrical generator, a centrifuge, and a chest of dry ice.”

After two years of collecting preliminary data on mutations that might predispose an individual to become diabetic, Shuldiner was able to obtain funding (first from the pharmaceutical industry and then from the National Institutes of Health) and hire a staff. Since then, the clinic has conducted several long-term studies to identify genes that predispose an individual to diabetes, hypertension, osteoporosis, heart disease, and also to longevity.

More than 3,000 members of the Amish community have participated in the Amish Family Diabetes Study. Shuldiner is quick to point out that this work could not have been accomplished without the hard work of a talented group of co-investigators from the University and other leading research institutions, a dedicated multidisciplinary team both in Lancaster and Baltimore, and the unprecedented cooperation of the Amish community.

During UMB’s Founders Week in October 2005, Shuldiner presented the lecture, “Quilting Needles, Lancaster Haystacks, and the Search for Genes for Common Diseases.” The results of this research, Shuldiner adds, might one day  “be translated into a new understanding of disease processes, and ultimately, into better ways to prevent and treat diseases.”

By Danielle Sweeney