DUP lecture: Understanding human genetic data’s role in diabetes

Where a gene sits on a chromosome can reveal all sorts of things about our health, such as who is predisposed to a disease, new therapy targets and who would benefit from those therapies.

“The explosion in human genetic data resulting from the Human Genome Project, the International HapMap Project, and the 1000 Genomes Project is providing remarkable opportunities to understand the genetic basis of human disease,” says Michael Boehnke, a professor at the School of Public Health and the 2008 Richard G. Cornell Distinguished University Professor of Biostatistics.

Boehnke’s talk will take place at 4 p.m. Feb. 15 in Rackham Ampitheatre. A reception will follow the lecture, which is free and open to the public.

Boehnke’s lecture, “Identifying Genes for Type 2 Diabetes,” describes his research group’s development of statistical methods for human gene mapping that take advantage of these data, application of these methods to Type 2 diabetes and opportunities for the next generation of studies.

“Taking advantage of these advances allows us to learn a lot about underlying biology that we couldn’t imagine being able to do until recently,” says Boehnke, who also was among the newly elected Fellows of the American Association for the Advancement of Science. He was recognized for his contributions to the analysis of human genetic data, particularly to the application of statistical methods to human gene mapping.

Diabetes has been called a “geneticist’s nightmare,” Boehnke says, because there are so many external behavioral and environmental factors that also fuel the disease. To compound matters, diabetes has several forms. It’s a crippling chronic disease that impacts more than 170 million people worldwide and 21 million in the United States, and its frequency has increased rapidly in the past 30 years.

Boehnke uses statistical techniques to help determine where on the chromosome disease genes are located. To do this they use genetic markers, or signposts along the genome, and map the position of the disease genes relative to the markers.

While there is more genetic data available than ever before, using this genetic information gleaned through gene mapping requires statistical analysis of thousands, and in some cases hundreds of thousands, of individuals, with collaborators from around the world, Boehnke says.

In 2007 a U.S.-Finnish team led by Boehnke identified nine genetic variants associated with Type 2 diabetes. Their team together with seven other groups around the world recently submitted a paper reporting a total of 38 such variants.

Type 2 diabetes is characterized by high levels of blood sugar caused by the body’s inability to utilize insulin to move blood sugar into the cells for energy. Diabetes is a major cause of heart disease and stroke, as well as the most common cause of blindness, kidney failure and amputations in U.S. adults.

Boehnke joined the faculty of the Department of Biostatistics in 1984 after completing a doctorate in biomathematics at UCLA. He is a member of the Institute of Medicine of the National Academies and a fellow of the American Statistical Association. Distinguished University Professor is the highest professorial title granted at U-M.

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