With the help of $1 million from Tyler’s Hope for a Dystonia Cure Inc., a new research center is being established and a leading scientist has joined the University of Florida to confront a disease that has disabled a half million Americans.
Yuqing Li, Ph.D., whose research has already played a part in current clinical testing to repurpose a commonly prescribed antibiotic to treat dystonia, has been recruited from the University of Alabama-Birmingham and is now a professor in the department of neurology at the UF College of Medicine.
Along with clinical researchers at the existing Tyler’s Hope Center for Dystonia Care at UF’s Center for Movement Disorders and Neurorestoration, Li will investigate causes and potential treatments for a malady that is not well-known outside of the dystonia community, even though it is the third most common movement disorder behind Parkinson’s disease and tremor.
“UF already has the best neurosurgeons and neurologists in the world working on this problem. The role of Tyler’s Hope is to bring a dream team together to cure a disease that has affected not only my children, but thousands of other kids,” said Richard A. Staab, president of Tyler’s Hope for a Dystonia Cure. “We want to provide support so the best and brightest researchers work side by side, focused on a single goal, without being distracted by administrative or nonproductive responsibilities.”
Tyler’s Hope is named for Staab’s son, who unexpectedly began having movement problems when he was 7. Tyler was diagnosed with DYT1 dystonia, named for the first gene mutation that scientists linked to the disorder. Later, Tyler’s sister, Samantha, was also diagnosed with DYT1 dystonia — the type Li primarily studies.
The gift will establish a Tyler’s Hope Dystonia Research Laboratory to work in conjunction with the Tyler’s Hope Center for Dystonia Care.
“We are grateful to the Staab family and Tyler’s Hope, and are excited Dr. Li has joined our faculty,” said Michael Good, M.D., dean of the College of Medicine. “It is through private support such as that provided by Tyler’s Hope that will allow us to move from being very good to becoming one of the nation’s best medical centers.”
Dystonia causes prolonged, involuntary muscle contractions. In some instances, muscles that normally tighten and relax in harmony work against each other, causing the body to twist into abnormal, often painful postures. The contractions may strike a single muscle or a group of muscles, such as those in the arms or legs.
No part of the body is off limits — even the neck, eyelids, face and vocal cords are susceptible. Scientists suspect neurotransmitters responsible for brain-muscle communication are being scrambled. But beyond that, little is known.
“We are trying to see inside of a black box,” Li said. “On one side of this box, there is an altered gene. On the other side, there is a movement problem. How one problem leads to the other is unknown. If we can open up that black box and see how it all connects, we can interrupt the process that is causing all the harm to the patient.”
The challenges presented by dystonia are different than those associated with brain diseases such as Alzheimer’s and Parkinson’s, said Tetsuo Ashizawa, M.D., chairman of the department of neurology and executive director of UF’s McKnight Brain Institute.
“In dystonia, cells are not dead or dying,” Ashizawa said. “Molecular dysfunction is occurring, which makes the disease more behavioral than neurodegenerative. The gene for dystonia also doesn’t cause the disease in everyone. If we can discover the secret behind that reduced penetration of the disease among people with the gene, we may have a cure. Fortunately, Dr. Li challenges all aspects of the problem.”
Li uses mice that have been engineered to have a genetic mutation similar to the one that causes dystonia in people. The models give scientists insight into genetic cause and effect, and also allow scientists to test drugs that might provide relief to children and adults with dystonia.
“Tyler’s Hope helps us build the infrastructure to do this high level of research,” Li said. “It’s like an airport — it takes a lot more than a runway. It takes a control tower and people with expertise coordinating a countless number of things. Likewise, a lab needs a building, equipment and experienced technicians to begin getting data for pilot studies, which will convince people at the federal level about the importance of investing in this research. These investments also have a multiplier effect that helps the local economy and brings jobs to the region.”
With the dystonia care and research program, UF’s Center for Movement Disorders and Neurorestoration increasingly figures as one of the nation’s most comprehensive and unique. Its doctors are widely known for their pioneering use of a surgical technique called deep brain stimulation to relieve movement problems, and its members have expertise across the spectrum of neurology, neurosurgery, neuropsychiatry, speech and communication disorders, physical therapy and rehabilitation, and computer science.
“In so many cases at this center, it’s been real people like the Staabs who have taken the initiative to move things forward,” said Michael Okun, M.D., a co-director of the center and the national medical director of the National Parkinson Foundation. “This is an organization that has done so much for UF and the community. Because of Tyler’s Hope, there’s nowhere else in the world where you can say ‘dystonia’ and people know what you’re talking about. ‘Tyler’s Hope’ and ‘dystonia’ have become synonymous here and in the medical world.”