Newly arrived genetics faculty members at work on complex human diseases

April 12, 2004

CHAPEL HILL — Three recent faculty arrivals in the genetics department at the University of North Carolina at Chapel Hill School of Medicine are studying how the interaction of multiple genes is involved in common and complex human diseases.Last year saw the arrival from Virginia Commonwealth University of Dr. Patrick Sullivan, professor of genetics and psychiatry in UNC’s School of Medicine and adjunct professor of epidemiology in the School of Public Health.Sullivan, a psychiatric geneticist, has written more than 120 professional publications. A major theme in his laboratory’s research is understanding the etiology of a number of important health problems, such as smoking behavior, schizophrenia and chronic fatigue syndrome.

“These disorders exhibit complex patterns of inheritance,” he said. “Developing an understanding of these disorders requires the integration of findings from multiple investigative approaches such as epidemiology, [gene] linkage analysis and association studies.”

Dr. Kirk Wilhelmsen, associate professor of genetics and neurology, has a long-standing interest in the human brain and how genetic variation causes differences in human behavior. He focuses on genetic mapping of genes responsible for neurodegenerative disorders. He came to UNC in December from the University of California at San Francisco with a large collection of blood samples from patients recruited for clinical studies.

Wilhelmsen’s lab has been developing automated gene mapping technologies to study the genetics of alcoholism.

“There are few conditions where there is a genetic susceptibility that shows more complex interactions between genes and the environment than alcoholism,” he said. “Epidemiological studies have demonstrated that genetics play a role in alcoholism, but it is also clear that there are complex interactions between genes and the environment that remain ill-defined.”

Teasing out these interactions will be a daunting challenge as his group attempts to find key susceptibility genes for alcoholism.

Wilhelmsen also uses gene mapping technologies to study the gene responsible for a family of disorders called frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). In collaboration with a consortium of researchers, his lab recently identified mutations in the “tau” gene that are linked to FTDP-17. His research seeks to determine how mutations in this gene produce disease and what role tau plays in other neurodegenerative conditions.

Dr. Karen L. Mohlke, assistant professor of genetics, earned her doctorate from the University of Michigan and joined the UNC faculty in January. Her interest in genomics and complex diseases has included research as a graduate student in the molecular basis of von Willebrand’s disease, a bleeding disorder, and studies on predictors of genetic susceptibility to type 2 diabetes.

After completing her doctorate, Mohlke joined Dr. Francis Collins, a UNC School of Medicine graduate, at the National Human Genome Research Institute, where she led a team working to uncover susceptibility genes for type 2 diabetes. This study represents the most comprehensive collection of data focused on genetics of adult onset diabetes in the academic sector. The team identified a specific candidate gene on chromosome 20 and a region on chromosome 22.

Sullivan, Wilhelmsen and Mohlke also are members of the Carolina Center for Genome Sciences.

“I think we’ve assembled a strong group in human genetics. The synergy now has formed quite nicely between human and mouse genetics,” said center director Dr. Terry Magnuson, Sarah Graham Kenan professor of genetics. “The establishment last year of our clinical genetics research center as a component of CCGS will enable basic scientists to understand the relationship between genetics and disease by allowing them to tap into clinical work at Carolina with patients and their families.”

In 2001, UNC Chancellor James Moeser announced a campuswide genomics initiative representing a public-private investment of at least $245 million over the next 10 years. Four new buildings affiliated with genomics research are supported by a combination of funds from the statewide higher education bond referendum, prior state appropriations and campus sources including private gifts.

The initiative involves faculty from the schools of dentistry, medicine, nursing, pharmacy and public health – as well as the College of Arts and Sciences, the schools of information and library science and of law.

In January 2003, UNC alumni Vaughn and Nancy Bryson committed $5 million to their alma mater as a part of the Carolina First campaign to establish a clinical genetics research center on the university’s medical campus.

The center brings researchers, physicians and medical faculty together to explore the relationship between genetics and diseases, address the critical need for trained clinical geneticists and transfer promising new treatments from the laboratory to patient bedsides. The close collaboration between laboratory scientists and physicians is expected to advance the knowledge of both groups.

This news release was researched and written by Leslie H. Lang of the UNC School of Medicine.

Note: To download photos of Sullivan, Wilhelmsen and Mohlke, click on:

http://www.unc.edu/news/newsserv/pics/faculty/mohlke_karen.jpg http://www.unc.edu/news/newsserv/pics/faculty/sullivan_patrick.jpg http://www.unc.edu/news/newsserv/pics/faculty/wilhelmsen_kirk.jpg

School of Medicine contact: Les Lang, (919) 843-9687 or llang@med.unc.edu