Medical student researches treatments for rare human disease

Human Anatomy PhotoFainting goats make for funny YouTube videos. But for the humans who share the same disease, myotonia congenita, muscular dysfunction is no laughing matter. The disease is rare in humans, occurring in one of every 50,000. Unfortunately, there are few options for treatment. Sabrina Metzger, an M.D./Ph.D. student at the Wright State University Boonshoft School of Medicine, is using muscle models in a search for more targeted treatments. By using the computational models she’s developing, it may be possible to know sooner which treatments are worth pursuing.

“The disease is caused by a mutation that results in muscle stiffness. The patients’ muscles don’t relax normally after voluntary movement,” said Metzger, a native of Camden, Ohio. “For example, if they clench their hands very tightly, they can’t open them for several seconds. Or, say they close their eyes tightly, it’s several seconds until they can open their eyes again. It’s a frustrating and potentially dangerous situation for the patients, and there just aren’t good treatment options available for them yet.”

Others in the lab of Mark Rich, M.D., Ph.D., professor of neuroscience, cell biology and physiology and professor of neurology, are also studying the disease. Where Metzger’s work comes in is its potential to streamline the discovery process. Her models provide an entirely separate way of approaching the study of the disease. “By using these computer models, we can potentially reduce the number of in-vivo experiments, and therefore the cost. The models allow us to gain insight into the mechanisms underlying the disease with much less time and expense,” Metzger said. “The main thing is that we’re trying to figure out what the best ways are to target the disease. That’s what we’re looking for.”

Her research is supported through the M.D. tuition scholarship and a Ph.D. tuition waiver and stipend. The awards have helped immensely, as Metzger is a non-traditional student. Without the scholarships, she wouldn’t be able to focus as intently on her research. “There’s no way I could be doing what I’m doing without it. I came in a lot later than other students. I’m at a different stage of life,” Metzger said. “The great thing is to be able to take the time to focus on my research.”

In the M.D. program, Metzger saw that there was less time for conducting the sort of in-depth study she sought. Having the option to complete her Ph.D. in the middle of her medical training allows her to do more intensive research and provides more choice in her future career. “It was a huge relief. Getting a Ph.D. gives me a lot more opportunities down the road,” said Metzger, who is considering a future in clinical care or lab research. “Having this kind of opportunity is amazing. It truly makes a world of difference.”

The Combined M.D./Ph.D. Program is a joint program administered through the Boonshoft School of Medicine and the College of Science and Mathematics. It reflects the strong interrelatedness of scientific disciplines in medical research today, encompassing areas of clinical, biological, physical, and computational sciences.

 

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