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Stowers Institute investigator has breakthrough in ALS research

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Posted at 11:43 PM, May 16, 2024

KANSAS CITY, Mo. — A local man is thankful for the groundbreaking research happening in a lab at the Stowers Institute in Kansas City, Missouri.

KSHB 41 News Reporter Megan Abundis spent her day talking about amyotrophic lateral sclerosis (ALS) with a local doctor, a scientist, and a man who is navigating his new ALS diagnosis.

Each wants to hear the hope of progress in this currently incurable disease.

It’s been pretty busy, emails, phone calls, doctor visits, kind of emotional with everything, taking it all in,” said Brian Hollan.

Hollan lives in northwest Missouri and was recently diagnosed with ALS.

“I got a small limp going on, that’s where it started," Hollan said. "I notice it more and more. I’m still trying to get in with some of the shots and prescriptions I have to take.”

Hollan grew up in St. Joseph, Missouri, but recently moved out to the country.

“That’s what I’ve always wanted to do and we finally moved out here,” he said.

“My mom had ALS, she passed from it, too,” he said. “It’s really emotional, but with my mom having it, and going through that, you got to roll with the punches and pray and hope that something does work.”

Dr. Omar Jawat, an Associate Professor of Neurology, is the Director of ALS Clinic, Director of EMG Laboratory, and Associate Program Director for Neuromuscular Medicine at the University of Kansas Health System.

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“I saw his mother several years ago and her disease was very fast, unfortunately,” Jawat said. “Brian’s mom was the first person that we got genetic testing on and we identified gene mutation.”

He says 300 people receive care at the University of Kansas Health System’s ALS clinic.

These patients, including Hollan, come from Missouri, Kansas, Oklahoma, and Arkansas to receive care.

“This is a very hard disease. As you know, ALS has been described since the late 1800's," Jawat said. "We don’t have a cure for it. It impacts the patients in multiple ways. This is a disease that causes progressive, multiple weakness, arm weakness, leg weakness, speech difficulty, swallowing difficulty, change of perception of emotion, difficulty breathing often impacting the family.”

Jawat said the diesease is a difficult diagnosis to deliver to the patient.

TheALS Clinicis a multidisciplinary clinic, with research, clinical trials, and staff who check everything from physical therapy functions to social work and emotional support.

Jawat said the first ALS medication was approved in 1995. The medication enabled patients to have about three more months of survival compared to patients who didn’t take the medication.

“For Brian, we are now in the process of doing treatment and there are clinical trials as well,” he said. “You’ll be surprised how ALS patients take this diagnosis, I’m always humbled when I give them the diagnosis and they all hope to help the greater ALS population.”

Hollan knows it's going to take time in his battle with the disease.

“In my case, I want answers quick, but I know it’s not going to happen as long as they do work on it and find something down the road," he said.

That hope extends to Stowers Institute Investigator Randal Halfmann, who looks at the process of aging and the creation of the ALS chain reaction with his work at the protein level.

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“I’m especially interested in what happens in the protein level, the molecules that make up your neurons,” Halfmann said. “Something is happening in the course of your neurons that starts that chain reaction, so I’m really interested to figure out what is the very first thing that happens to start that chain reaction.”

Halfmann said ALS patients have a particular protein that forms aggregates in the neurons hats linked to the process of the disease.

“I’ve been really focused on understanding what is the first thing that happens to that protein that starts this aggregation process,” Halfmann said. “We express it in yeast cells when we provide the instructions. They make the same protein our brain makes. We developed technology at the Stowers Institute that allows us to measure this aggregation property of the protein and then we make lots and lots of different tweaks to the protein, changing its sequence. We ask how those changes will influence aggregation behaviors.”

He's looking for what are the sequence features that cause it to aggregate that is the key pathological manifestation of ALS, Halfmann said. It’s the thing that ALS patients end up with inside of their brain.

“We have found something in this chain that hasn’t been found before," he said. "So we have found a piece of the sequence that is critical so when we just make the very slightest change to that one letter in the sequence, we can control whether or not it aggregates or never aggregates and that’s been very exciting for us. Its shown us a possible therapeutic path forward."

AKA potential drug targets, also a diagnostic tool that he says could potentially diagnose people much, much sooner.

“The long term is finding the protein in the cells that are influencing when this process happens," he said. "Eventually develop some kind of treatment to target those things."

Halfmann says what's next is to start an experiment with cerebral organoids.

“When we put the neurons, the microglia and the astrocytes all together, they start talking to each other and interacting the way they should with human cells," he said. "We ask, 'Do we then still see the same letter in the same sequence have the same effect when we first saw it in yeast?'”

From the lab to a patient's room, Jawat and Hollan know breakthroughs take time.

“We try to provide as much as we can from that support standpoint,” Jawat said. “Hopefully, one day we will hit the jackpot with a clinical trial, but this disease is very difficult.”

“All you can do now is pray, because there’s not a cure for it, and like I said, I’m going to be there for other people," Hollan said. "Hopefully, if there’s a new trial for me, then I'll go for it.”