UR Researcher Finds Unexpected Connection with Rare Disease

Feb. 28, 2020

Tufikameni Brima, Ph.D. research assistant professor in the Cognitive Neurophysicology Laboratory (CNL). He work is centered around two rare genetic disorders, Rett syndrome and Batten Disease.

Tufikameni Brima, Ph.D. has dedicated much of her career to understanding how brain processes differ in children and adults with genetic neurodevelopmental disabilities. Brima is a research assistant professor in the Cognitive Neurophysiology Laboratory (CNL) in the Del Monte Institute for Neuroscience and her work is centered on two rare genetic disorders — Rett syndrome and Batten Disease.

Brima’s research is focused on developing objective quantitative measures of brain function in patients, where standard cognitive evaluation is almost impossible to administer. These measures will enable scientists and clinicians to accurately track disease progress and the effect of current and future therapies. She uses electroencephalogram (EEG) as tool to explore cognitive processing and language comprehension in non-verbal individuals with these rare disorders. She hopes that in addition to objective measures of brain function, her findings will also contribute towards the development of better communication devices for these individuals.

“The advantage of using EEG is that it provide us with an effective tool that is inexpensive, portable, and easy to administer. If we can find a way to routinely use EEG as part of our screening protocols especially in non-verbal patients, it would be very helpful in terms of accurately  assessing the progression of their disease, and in turn, making certain that they get the proper medication,” Brima said.

Collaborating with the University of Rochester Batten Center, CNL is studying how the brain of a person with Batten disease responds to different information. It is an effort to identify surrogate biomarkers, which could help fellow researchers, understand more about how genetic mutations of this disease affect brain processing and disease progression. This knowledge will, in turn, facilitate the development of effective therapies.

While dedicated to both disorders, Brima learned early on she may have a personal connection to Rett syndrome. Growing up in Namibia, Brima believes her first experience with the syndrome was within her own family. “Looking back, I believe one of my aunts had a child with Rett syndrome.” She made the connection as a post-doctoral associate when she met her first patient with Rett syndrome who reminded her of that child. The connection instantly made her work personal with a mission beyond her initial intentions. “I want to go back home one day and inform people, educate people that it's not the woman's fault that a child is born with a genetic disorder. That they have a mutation. That they are not as intellectually capable as other children. I want to educate the women there that they do not need to be outcasts because they have a child that is challenged intellectually, or they're not able to walk, or are wheelchair bound.”

Until that day, Brima finds inspiration in the families she meets and works with at the University who are impacted by these genetic disorders. “To me it makes my work so much more meaningful because I know that even though what I'm doing right now might not impact the families that are coming in for studies directly, it will affect at least one of them along the line in the future.”

In November 2019, Brima led Rett Syndrome Education and Research Day at the Medical Center. The first of what will become an annual event that brought together patients and families along with clinicians, researchers, and community members to connect and cultivate a sense of support and belonging.

Saturday, Feb. 29 is International Rare Disease Day. Brima is one of many researchers at the University of Rochester who are studying rare neurological disorders.