This three-year grant strengthens the research arm of the Medical Center's ALS clinic, one of the largest treatment centers for the disease in Pennsylvania. ALS is a neurodegenerative disease that starts with muscle weakness and progresses to loss of muscle function and death. There is no known cause of the disease and no known treatment.
PGA golfer Tom Watson and his caddie, Bruce Edwards, recently have brought a great deal of attention to the disease since Edwards' diagnosis in January 2003. About 30,000 people in the U.S. live with ALS and sufferers usually survive five years or less after diagnosis. "Because so little it known about ALS, a number of our families from the clinic have been working with us to raise funds to support ALS research," said Zachary Simmons, M.D., professor and interim chair, Department of Neurology, and director of the ALS Clinic at Penn State Hershey Medical Center. "This award makes it possible for us to look into possible causes and risk factors of ALS and add to what little information is known about this disease."
In a preliminary study of 74 people diagnosed with ALS, Simmons and research partner James R. Connor, Ph.D., professor of neural and behavioral sciences, Penn State College of Medicine, found that there is a high prevalence of a mutation in a gene called Hfe in ALS patients.
"This suggests that the Hfe mutation is a risk factor for ALS," Connor said. "This grant will allow us to expand the number of individuals we can test with and without diagnosed ALS and continue our studies to see how the mutation affects onset and progression of this disease."