College of Arts and Sciences

OU professor awarded NIH grant to investigate genetic brain disorder

Professor Adam Avery and a group of students are researching gene mutations linked to Spinocerebellar Ataxia, a neurological disorder that affects muscle control.

Brain and Double Helix Graphic

icon of a calendarNovember 10, 2020

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OU professor awarded NIH grant to investigate genetic brain disorder
Brain and Double Helix Graphic

Adam Avery, an assistant professor of biochemistry, has been awarded a three-year, $400,000 grant to research gene mutations associated with Spinocerebellar Ataxia, a degenerative brain disorder that affects motor skills, including balance, coordination and speech. 

Adam Avery

Adam Avery, an assistant professor in OU's Department of Chemistry, received an NIH grant to research Spinocerebellar Ataxia Type 5.

There are at least 40 known types of Spinocerebellar Ataxia and each corresponds to a different affected gene. Avery’s research looks at Spinocerebellar Ataxia Type 5 (SCA5), which is associated with a gene that encodes for β-III-spectrin, a cytoskeletal protein responsible for maintaining the structure of Purkinje cells. These neurons are found in the cerebellum, located at the back of the brain, and control muscle coordination.

“Purkinje neurons have highly complex structures that look like the arbor of a tree. These arbors are critical for the neurons to receive and transmit signals in the brain,” Avery said. “My research is focused on the molecular mechanisms that support neuron structure and understanding how gene mutations cause breakdowns in that structure.”

As a postdoctoral fellow at the University of Minnesota, Avery conducted research on the molecular underpinnings of a gene mutation linked to SCA5. The research showed that a particular mutation in the gene encoding β-III-spectrin caused an increase in the binding of β-III-spectrin to another protein called actin. Moreover, understanding the molecular consequences of a gene mutation is critical because it lays the groundwork for the development of treatments for heritable diseases like Spinocerebellar Ataxia.

“There’s currently no cure for Spinocerebellar Ataxia,” Avery noted. “But if we can understand the disease on a molecular level, we can use that knowledge to search for molecular compounds that counteract the problem.”

Avery worked with researchers at the University of Minnesota to develop a way to screen for molecular compounds that could remedy the effects of the mutation. The screening process, which is funded by a separate NIH grant, is in progress and any compounds showing promise will be sent to Avery’s lab at OU for further characterization. The results of the screening could also complement the research being funded under Avery’s most recent NIH grant. 

“Some of the mutations that we’re beginning to study under the new grant are in a region of the β-III-spectrin gene that is close to the mutation I already characterized,” Avery explained. “If those mutations have a similar molecular consequence, then the same drug could prove useful for treating them as well.”

Sarah Denha and Naomi Billings

OU students Sarah Denha and Naomi Billings at the 2019 American Society for Cell Biology Conference in Washington, D.C., where they each presented research.

In addition, the research could also provide insight into diseases associated with mutated genes that encode for proteins related to β-III-spectrin, including muscular dystrophy and certain forms of heart disease.

The research for Avery’s most recent NIH grant is assisted by OU doctoral student Sarah Denha, master’s student Alexandra Atang and undergraduate students Naomi Billings and Amanda Keller. As part of the grant, the researchers are also investigating the impact SCA5 mutations have on neuron structure.

“I previously developed a model in fruit flies that showed that a specific SCA5 mutation causes a set of unique defects in neuron structure,” Avery said. “Currently, we are testing if similar defects are induced by other SCA5 mutations. These studies will inform on whether distinct SCA5 mutations share a common disease pathway.”  

Sarah Denha

Sarah Denha shares her research at the 2019 American Society for Cell Biology Conference.

Fruit flies are a good model for this research because they have a type of neuron that branches off like a tree arbor – similar to the human Purkinje neurons thought to be impacted by SCA5.

“The arbor part of the neuron integrates sensory information related to motor skills like walking and talking,” Avery said. “With SCA5, the arbor is much smaller than normal, which impairs neuron function and causes problems with motor activity. The more we understand about how these biochemical processes work and how various gene mutations disrupt them, the better our chances of developing therapeutics to help those impacted by the disease.”

Learn more about OU's Department of Chemistry at

Full Circle: Adam Avery's journey from student to professor at OU

Before he became a professor, Adam Avery caught the research bug as an undergraduate in Oakland University’s Department of Chemistry. He graduated from Oakland in 2001 with a bachelor’s in biochemistry and went on to receive a Ph.D. at the University of Michigan. After that, he spent six years at a biotech firm developing methods to screen for therapeutics. His biotech experience is now being applied in his pursuit of an SCA5 therapeutic. 

In 2012, Avery became a postdoctoral fellow at the University of Minnesota. While there, one of his mentors was Professor Harry Orr, a 1971 Oakland graduate and leading expert on Spinocerebellar Ataxia. Avery credits his mentors for guiding him on the path to a research career.

“While an undergrad at Oakland, the close attention I received from my mentor, Gabrielle Stryker, gave me the confidence to pursue a career in foundational research,” said Avery. “When my journey took me to Ann Arbor, and then to Minneapolis, I continued to reap the benefit of numerous mentors. I learned the importance of mentors who set high expectations, yet provide the support to succeed."

In his role as professor, Avery shares the lessons he has learned and maintains the high standards that his mentors instilled in him.

“In my own lab at Oakland, mentoring graduate and undergraduate students is one of the most rewarding parts of my job,” said Avery. “I expect my students to conduct research of very high quality and importance, and I strive to maintain a positive lab environment that promotes growth in self-confidence and independence.”

Oakland Press Article

As an OU undergraduate, Avery was featured in an Oakland Press article for his research into a DNA vaccine for Chagas disease.

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