College of Medicine researcher gets prestigious neuroscience research grant

University of Florida Health researcher Laura P.W. Ranum, Ph.D., has won a prestigious Javits Neuroscience Investigator Award from the National Institute of Neurological Disorders and Stroke to study an inherited central nervous system disease.

Named for the late U.S. Sen. Jacob Javits, the award offers up to seven years of research funding to scientists “who have a distinguished record of substantial contributions in a field of neurological science and who can be expected to be highly productive,” according to the institute, a part of the National Institutes of Health.

The four-year, $2.5 million grant, which can be renewed for three additional years, will be used to conduct research on spinocerebellar ataxia type 8, said Ranum, director of the Center for NeuroGenetics and a professor in the UF College of Medicine’s department of molecular genetics and microbiology.

Spinocerebellar ataxia type 8 is a genetic disorder that impairs nerve fibers carrying messages to and from the brain, according to the National Ataxia Foundation. The disease causes balance and coordination problems, slow and drawn-out speech as well as difficulty swallowing as it progresses. The disorder affects about one out of every 100,000 people.

Ranum studies genetic mutations that cause neurologic diseases such as ataxia, myotonic dystrophy and amyotrophic lateral sclerosis, or ALS. Many of these diseases are caused when three or more letters of the genetic code are repeated. Ranum’s lab showed that these expanded stretches of repeat DNA can cause cells to make unexpected and unwanted proteins, which can accumulate in patients’ brains. Her group is now investigating how these proteins are made and developing ways to block their production. While research that will be conducted as part of the grant is focused on developing treatment approaches for spinocerebellar ataxia type 8, Ranum said the results may also impact a broad group of other diseases also caused by repeat expansions, including myotonic dystrophy and ALS.

Ranum has had a longtime interest in repeat expansion mutations. In 1999, her research group discovered that one such mutation caused spinocerebellar ataxia type 8. Two years later, her group found that a similar mutation in which four letters of the genetic code are repeated up to 10,000 extra times is responsible for a form of myotonic dystrophy.

Ranum said studying mouse models and donor tissue from patients should reveal more about how the proteins that give rise to disease are produced and accumulate in the brain. The ultimate goal, she said, is reversing the effects of spinocerebellar ataxia type 8 by “turning off” the gene that causes the disease.

The Javits Award is a particular honor because it recognizes a researcher’s body of work. Some 560 Javits Awards have been granted since 1983. Ranum is the fifth UF researcher to receive a Javits Award and the first since 1992, when Colin Sumners, Ph.D., a professor in the department of physiology and functional genomics, was recognized.

“I was thrilled to learn about this award. It’s a big honor and an award I see as credit to the many talented students and postdocs that I have had the pleasure to work with over the years,” Ranum said.

The award validates the importance of Ranum’s work, which is leading to new understandings of the mechanisms that result in neurological diseases, said Henry Baker, Ph.D., chairman of the department of molecular genetics and microbiology.

“She has assembled a strong team at UF, and I am confident that Dr. Ranum and her group will make many important discoveries in the future and receive many accolades and awards,” Baker said.