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Milwaukee Researcher Aids in the Effort to Understand ALS

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Earlier this year, the documentary Gleason made its Milwaukee premiere in a private event. The film tells the heartwrenching story of Steve Gleason, a former NFL player who suffers from ALS.

That film’s release comes on the heels of a potentially important development in the effort to better understand how the disease, which is also referred to as Lou Gehrig’s Disease, works and to someday develop effective treatments or a cure.

Those findings, which were reported in the journal Nature, were watched with interest by Allison Ebert.  She’s an assistant professor in the department of cell biology, neurobiology and anatomy at the Medical College of Wisconsin.

Ebert says the latest research is "a springboard into better understanding."

Although there is no known cause for how the majority of ALS patients develop the disease, researchers found a new gene called NEK1, which has been identified in a large amount of ALS patients, according to Ebert.

She admits that although there has already been more than 20 genes identified over the years, ALS remains a mystery to researchers. However, as new genes are identified, progress is nevertheless made.

"[NEK1] provides researchers an opportunity to target specific pathways and molecular processes that might then lead to a better understanding of disease characteristics," says Ebert.

Her lab uses induced pluripotent stem cells, or iPS cells, derived from patient's skin, urine or blood to look for genetic screens to make cell types effective in combating ALS. "We take genetic manipulation so we can force expression of certain genes that make these cells then behave not like the cell type they were, but the cell type similar to an embryonic stem cell that has the capability of generating essentially any cell type within the human body," Ebert explains.

Through using iPS cells, Ebert's lab and other researchers can compare and contrast healthy cells with cells from ALS patients to hopefully progress to treating the disease by skipping the malfunctioning step or reversing the process.

Ebert credits the wide research base and fundraising efforts, such as the ALS Ice Bucket Challenge, in discovering new genes so quickly. "By having such large networks of people working together with these patient samples, we're getting a better idea of what's really happening across the spectrum of ALS patients," she says.

"Showing the world what this disease is all about in conjunction with raising such funds through the Ice Bucket Challenge, hopefully this will allow people to realize what their donations are going for and will spur them to continue making donations to support this really tragic disease," Ebert says.

This piece was originally published August 12, 2016. 

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Audrey is a producer, host and reporter for Lake Effect. She is involved with every aspect of the show — from conducting interviews, editing audio, posting web stories and mixing the show together.