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Research: Cell Mutations, Epilepsy Treatment

News Story

Professor Zafir Buraei, PhD, and Pace student Salma Allam teamed up for some rather complex neuroscience research. What they uncovered can potentially result in providing more personalized treatment for individuals with epilepsy.

To the average person, neuroscience might be one of the most daunting academic fields out there. But for Salma Allam ’17, who aspires to one day work as a neurosurgeon, conducting complex neurobiology research with Assistant Professor Zafir Buraei, PhD, wasn't an insurmountable challenge. In fact, it became the cornerstone of her college experience.

Allam, a biology major and neuroscience minor, became very interested in Professor Buraei’s work upon hearing him deliver a faculty research presentation, focusing on the way in which mutations are associated with certain disorders.  Buraei reasons that mechanistic nature of a particular mutation’s harm can be identified, doctors will be able to more accurately prescribe medicine to treat neurological disorders more effectively, and with fewer side-effects. The mutations that interest Buraei are those that occur in ion channelsproteins that allow the passage of charged particles into the cell, generating the electrical activity responsible for nerve cell communication.

“Once you identify how a mutation messes up a channel, you can essentially predict the effectiveness of various drugs. In other words, we’re moving towards personalized medicine,” says Buraei.

When Allam began to conduct research with Buraei in October 2015, they focused on looking at mutations in genes that caused epilepsy. Specifically, they looked at mutations within ion channels–canals in a cell membrane that generate an electrical current, and inform nervous system communication.

“The cell membrane that encloses the cell has these canals in it that open and close and can let ions in and out. In this movement, an electricity is generated. This electrical signaling is the basis of nerve cell communication. Any mutations in these channels can cause various diseases—from autism, to Alzheimers, epilepsy, you name it,” says Buraei.

Allam’s research focused on measuring the electrical current of mutated ion channels, and comparing them to those of non-mutated channels. They found that the mutant channel had a much smaller current than the normal channel, which meant that the channel was blocked. This discovery enabled the duo to predict a specific drug to prescribe for this particular scenario—one that would activate the channel, as opposed to a drug that would block the channel, which would make sense to prescribe had the channel posted a larger current than usual.

Buoyed by the discovery she and Professor Buraei made, Allam presented the results of the research at the Northeast Under/Graduate Organization for Neuroscience (NEURON) Conference at Quinnipiac University in Hamden, Connecticut.

“This was a conference for neuroscience research—everyone’s posters are lined up, judges come up and you present to them, they ask you questions. The judges then meet up and decide who should be the winner, and present at an award ceremony,” says Allam.

Allam’s presentation at the conference ended up being a huge success, as Allam walked away with an Honorable Mention Award, beating out dozens of researchers for the accolade. In early April 2017, she went one to win another award at the 71st Annual Eastern Colleges Science Conference, receiving honors for  "Outstanding Presentation in the Category for Genetics/Molecular Biology."

Despite their recent successes, Allam and Buraei don’t want to rest on their laurels.

“We want to make sure that the reason for the current being decreased is due to the mutation not allowing enough calcium channels to reach the cell membrane—so were going to do tests to make sure that’s what’s really happening,” says Allam.

In turn, this will enable the duo to determine the root cause of the mutant channel's malfunction, will which will enable potential patients to receive more precisely targeted treatment, and ultimately, help prevent epileptic episodes.

Allam, who graduates in the spring and plans to attend medical school, found that the research work helped her grow not just academically, but also personally and professionally.

“This research, it was really the highlight of my four years at Pace,” says Allam. “It made me more confident, more open. As a freshman I didn’t understand how important research was, but now I’ve realized its importance, and enjoyed it quite a lot.”

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