To Cherish a Different Way of Thinking

Posted in GUMC Stories

Rachel Wurzman has spent much of her life trying to figure out, as she says, “what makes her tic.” And she plans to devote her career to it.

Wurzman, a fourth year student in the Interdisciplinary Program in Neuroscience (IPN) has Tourette syndrome, a disorder that produces neck and shoulder jerks so pronounced she once had to have surgery to repair a degenerated disc. But Wurzman works around her tics, saying that to her, they are “cosmetic.”

And she plans a future in the lab, trying to understand why her brain is wired in such a way that it fails to normally filter information, be it a signal to twitch her jaw or a disconnected thought that leads to creative insight.

At first, Rachel and her family had no idea what was happening to her. The first signs of something amiss came when she was little more than a toddler growing up in Plano, Texas. She often twisted her jaw, then showed signs of attention deficient disorder (ADD) as well as mood/anxiety disturbances. Later at school, she couldn’t accurately copy numbers from a blackboard on to notebook paper, which was puzzling because she was so obviously smart. Wurzman started tossing her hair, scrunching her eyes, and popping her neck. A neurologist labeled her as “ADD with tics” because in those days, doctors waited until children reached adolescence to diagnose what she really has – Tourette syndrome (TS).

In middle school, Wurzman poured over clinical journals that a family friend, a psychiatrist, gave her. She learned about neurotransmitter and inheritance patterns long before she took biology in school. Despite her fear of mathematics, Wurzman majored in neuroscience at Smith College. She had decided to follow her passion – studying the basal ganglia’s striatum, the source of many neurological disorders – and says, “I have never regretted it.”

After college, she worked as a post-baccalaureate fellow in a movement disorders laboratory at the National Institute of Neurological Disorders and Stroke, where she actually once participated as a patient in an ongoing Tourette syndrome brain scanning study. She told the study leader the findings might be flawed, because when the participant in the scanner suppresses tics, the “urge” feelings before tics increase. “So what the study was measuring was how it feels to suppress tics,” she says. That led Wurzman to create a new scanning study that would isolate suppression activity from activity leading up to tics. She soon earned a Masters of Science degree from Georgetown in the Department of Physiology and Biophysics.

A View From Inside

Wurzman is now earning recognition for the research she conducts on the disorder she considers a “gift”.

In the IPN, she has delved into the notion that a family of molecules, the Eph/ephrins, is involved in abnormally wiring various circuits leading to subtle differences in cognition and behavior. Under the guidance of neuroscientists Lawrence Kromer, Ph.D., and Stefano Vicini, Ph.D., both Georgetown professors, she is testing this concept in special animal models of tic disorders.

For her innovative work, Wurzman was recently awarded a National Research Service Award (NRSA) from the National Institutes of Health that will fund her research and give her a stipend for the next three years. The IPN usually has several people who receive the award each year – which speaks to the exceptional nature of both the program and its students – and this year was no different. In addition to Wurzman, an NRSA was also awarded to IPN students, Bridget Queenan and Lauren Orefice, who both study how neurons change their synaptic connections over time depending on brain activity.

Wurzman, however, is unique within the IPN because she is using her personal insight into Tourette syndrome to inspire her study of the neural basis tic disorders.

Leaky Filter

Experts think that individuals with Tourette’s can be unusually gifted and highly creative. Wurzman says she has met many “TSers” who are just that.

The role of the striatum is to integrate incoming signals from many areas of the brain – movement, emotions, sensation – and filter out information that shouldn’t be passed along for cognition or behavior, she says. There is much that can go wrong with such exquisite control: obsessive-compulsive disorder, autism, depression, and the movement disorder seen in Parkinson’s disease all have roots in the striatum.

In Tourette syndrome, the filter is leaky, Wurzman says. “Too much gets through. Because one part of the striatum isn’t active enough, irrelevant sensory and motor information “leak through” and cause the striatum to release a signal to move unintentionally, resulting in an involuntary movement.” Wurzman’s heightened sensory system reminds her constantly that clothes are on her skin, but it also allows her to be sensitive to new ideas. “It seems more things come to mind, reaching a consciousness that might not otherwise have happened,” she says. “I associate things together that, I think, offers me an advantage.

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Wurzman’s goal is to have her own lab, and she wants to combine her study of Tourette syndrome and other such disorders with a side focus on neuroethics and advocating for neurodiversity. “We all need to recognize that neurological disorders often occur on a spectrum… not only the severity, but the form a disorder takes can differ in individuals,” she says. “This means than any one-size-fits-all treatment for a disorder is likely to also cancel out aspects that are advantages. So while it is important to prevent suffering, we should not automatically seek to cancel out such diversity, which has much to offer society.” An example? Try Mozart, whom some scholars suggest had a form of the syndrome, Wurzman says.

“The medical model is what has allowed us to explore the neural basis of Tourette syndrome,” she says. “We now need to add another layer on top of that ⎯ a nuanced understanding that Tourette syndrome is a spectrum disorder, and an interesting one at that, as opposed to a disease.

Wurzman’s research is supported in part by a National Research Service Award from the NIH (#1F31MH098636-01).

By Renee Twombly, GUMC Communications
(Published August 1, 2012)