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Researcher has personal connection to rare disease

Thursday, March 5, 2020

Tufikameni Brima was a post-doctoral associate when she met her first patient with Rett syndrome. The patient's symptoms reminded her of the symptoms she had seen in her aunt's child in Namibia.

Now, as a research assistant professor in the Cognitive Neurophysiology Laboratory (CNL) in the Del Monte Institute for Neuroscience, her work is centered on Rett syndrome and another rare genetic disorder — Batten Disease.

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 connection to her aunt's child has 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," she says. "I want to educate the women there that they do not need to be outcasts because they have a child who is challenged intellectually, or they're not able to walk, or are wheelchair bound."

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