May 10 2012
With the support of a Major League Baseball star, a new University of Florida research center on an island settled by the Vikings could lead to breakthroughs about a rare genetic disorder and potentially change the course of care for high blood pressure and other common conditions.
UF College of Medicine researchers studying a genetic condition called glycogen storage disease type III, which prevents children and adults from properly processing sugar stored in the body, have received support from the Johnny Damon Foundation to establish a new research center on the Faroe Islands, located in the North Atlantic Ocean between Norway and Iceland. Because of the isolation of the island chain, genetic diseases are common there, making it a fertile ground for researchers.
"Johnny Damon has no connection to this disease, so his willingness to help means a lot to me," said David Weinstein, M.D., a professor of pediatrics in the UF College of Medicine and director of the UF Glycogen Storage Disease Program. "We hear often about problems in sports, but we don't frequently hear about athletes who go out of their way to help people. We could not do this without his support."
Type III glycogen storage disease is one of the rarest forms of the disease and is linked to all the places where the Vikings settled more than 1,000 years ago. The disease occurs because of a genetic glitch that prevents children's bodies from properly processing glycogen, stored sugar the body uses as fuel throughout the day. In children with this disease, stored sugar accumulates in the liver and muscles, including the heart, often causing it to grow so large it cannot function.
One in 3,000 people on the Faroe Islands has glycogen storage disease, or GSD, compared with about one in 100,000 in the United States. In addition, one in 22 people on the islands is a carrier for the disease, a statistic Weinstein suspects may be linked to other conditions prevalent there, such as high blood pressure and high levels of fats called triglycerides. Because Faroese people consume mostly fish, meat and root vegetables - there is only one fast food restaurant in the country - the high prevalence of high cholesterol and high triglycerides among the population is a mystery, Weinstein said.
Working in collaboration with the Faroese government and scientists there, UF researchers will study not only glycogen storage disease but also how it may link to some of these other common problems.
"The textbooks all say when you are a carrier for genetic diseases, that you are normal and have no effects," Weinstein said. "We think the textbooks are wrong. We have evidence already from dogs that are carriers for GSD here that carriers of disease have mild manifestations. The way it may present is as high cholesterol and high triglycerides or it may be a cause of kidney stones. Common problems we deal with all the time may be due to being a carrier for this disease. This study will help not only islanders but could show that we should be treating common disorders in a different way."
For example, if a link is found between glycogen storage disease and high cholesterol, the research may show that precise doses of cornstarch -the common treatment for some types of GSD - could be a safer and more effective treatment to combat cholesterol in carriers than the medications currently used, Weinstein said.
With no other foundations funding type III glycogen storage disease research, the Johnny Damon Foundation's continuing support and $16,000 donation earmarked specifically for the new research center is particularly significant, Weinstein said.
"For us, this donation was an opportunity to support research that could make a difference in the lives of children living with what can be a devastating disease without the right therapy," said Arden Czyzewski, executive director of the Johnny Damon Foundation. "We are also excited that this work could potentially help advance understanding about other common health conditions that affect people across the world."
Damon currently plays for the Cleveland Indians but is perhaps most well-known for his play with the Boston Red Sox when the team won its historic World Series in 2004 and for his five years with the New York Yankees, where the team also won a World Series.
At UF, home to the largest center in the world for the liver forms of glycogen storage disease, Weinstein sees patients with the type III GSD from every continent except Antarctica. He started working with patients on the Faroe Islands in 2008 after meeting a German doctor who frequently visited the country to treat children with the disease. With Weinstein's help, the health of children on the island with the disease has greatly improved, said collaborator Runa Olsen, M.D., a pediatrician at Queen Alexandrine's Hospital on the Faroe Islands.
"It is very exciting, the fact that we are establishing a research community on the island is very good for other diseases, too," Olsen said.