Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

July 16, 2012

Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

A team of University of Missouri researchers has found that introducing a missing gene into the central nervous system could help extend the lives of patients with Spinal Muscular Atrophy (SMA) — the leading genetic cause of infantile death in the world.

SMA is a rare genetic disease that is inherited by one in 6,000 children who often die young because there is no cure. Children who inherit SMA are missing a gene that produces a protein which directs nerves in the spine to give commands to muscles.

The MU team, led by Christian Lorson, professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology, introduced the missing gene into mice born with SMA through two different methods: intravenously and directly into the mice’s central nervous systems. While both methods were effective in extending the lives of the mice, Lorson found that introducing the missing gene directly into the central nervous system extended the lives of the mice longer.

“Typically, mice born with SMA only live five or six days, but by introducing the missing SMN gene into the mice’s central nervous systems, we were able to extend their lives 10-25 days longer than SMA mice who go untreated,” said Lorson, who works in the MU Bond Life Sciences Center and the College of Veterinary Medicine. “While this system is still not perfect, what our study did show is that the direct administration of the missing gene into the central nervous system provides some degree of rescue and a profound extension of survival.”

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BOONE LIFE: MU art student with disability expresses self in art

December 29, 2011

BOONE LIFE: MU art student with disability expresses self in art

Missourian | December 26, 2011 | By Pinar Istek

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COLUMBIA — Her days take more planning than those of most people. She needs to see one of her five caregivers three times a day. She spends her nights in a chair instead of a bed. Other than that, Allison Reinhart, 26, is not much different than any other person.

“I just don’t want people to look at me and my story and how I get around and think that’s the way that those people do that stuff,” said Reinhart, an art student at MU.

She was diagnosed with spinal muscular atrophy, a hereditary neuromuscular disease, when she was 16 months old. Reinhart lived in the suburbs of St. Louis until moving to Columbia two years ago.

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Synthetic RNA Lessens Severity of Fatal Disease

November 22, 2011

Synthetic RNA Lessens Severity of Fatal Disease

Science Daily | November 21, 2011

A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) — the leading genetic cause of infantile death in the world.

“When we introduced synthetic RNA into mice that carry the genes responsible for SMA, the disease’s severity was significantly lowered,” said Chris Lorson, researcher at the Bond Life Sciences Center and professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology. “The mice that receive synthetic RNA gain more weight, live longer, and had improvements in motor skills. These results are very exciting.”

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MU Researchers Find New Insight into Fatal Spinal Disease

September 27, 2011

MU Researchers Find New Insight into Fatal Spinal Disease

HealthCanal.com | September 27, 2011

Michael Garcia, MU associate professor of biological sciences, found a communication breakdown between nerves and muscles that may provide new insight into the fatal human disease known as spinal muscular atrophy.

COLUMBIA, Mo. – Researchers at the University of Missouri have identified a communication breakdown between nerves and muscles in mice that may provide new insight into the debilitating and fatal human disease known as spinal muscular atrophy (SMA).

“Critical communication occurs at the point where nerves and muscles ‘talk’ to each other. When this communication between nerves and muscles is disrupted, muscles do not work properly,” said Michael Garcia, associate professor of biological sciences in the College of Arts and Science and the Bond Life Sciences Center. “In this study, we found that delivery of ‘the words’ a nerve uses to communicate with muscles was disrupted before they arrived at the nerve ending.”

This would be similar to the idea of someone opening their mouth to talk, but nothing comes out. The words are not there to come out, so no communication is transmitted to the other person.

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Loan programs rescue patients

September 2, 2011

Loan programs rescue patients

stltoday.com | September 1, 2011 | BY CYNTHIA BILLHARTZ GREGORIAN

Some days, Ben Shaffer, 9, is so weak and tired he can barely walk into his fourth-grade classroom at Tillman Elementary School in Kirkwood.

“He was diagnosed with muscular dystrophy three years ago, but the doctors are not sure they have it right,” says his mother, Jennifer Shaffer.

Nevertheless, Ben’s doctor registered him with the Muscular Dystrophy Association, which lent him a wheelchair for days when walking is too hard.

Taylor Branson, 11, of Eureka, has spinal muscular atrophy type II, and is scheduled to have spinal fusion surgery in coming weeks, her mother, Julie Branson, said. When Taylor returns home, the Bransons will need a hospital bed and a hydraulic sling lift to move her between wheelchair and bed.
Not a problem, said the MDA. The group will have its people at United Seating & Mobility in Earth City collect the items from the MDA’s loan closet in Portage Des Sioux and deliver them to the Bransons for use as long as they need.

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MDA: Young woman won’t let MD stop her or her dreams

September 2, 2011

MDA: Young woman won’t let MD stop her or her dreams

KSDK | August 31, 2011 | By Mike Bush

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Chesterfield, MO (KSDK) – For some people, moving day is every day.

Twenty-year-old Gabriela Garbero is on the move again. She’s heading back to the University of Missouri, excited about finally getting her own apartment.

“She’s very independent,” said Gabby’s mom, Kelley Garbero. “A lot more independent than people would give her credit for.”

She’s always been able to look ahead, which is even more impressive when you look back.

Gabriela was born with a neuromuscular disease called Spinal Muscular Atrophy. It was diagnosed when she was a baby after dozens of tests.

“It was two weeks of absolute torture,” said Kelley.

SMA affects the motor neurons of the spinal cord and brain stem, causing muscle weakness. The family says, the Muscular Dystrophy Association was their shoulder to lean on.

“From the very beginning, they were a source of great support,” explained Kelley.

MDA’s message was the only difference between Gabriela and someone else, is that she would need a wheelchair to get around. And the Garbero’s weren’t ones for pity parties. They passed that message on to their daughter.

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The end of ‘Special Sarah’

August 28, 2011

The end of ‘Special Sarah’

STLToday.com | August 28, 2011 | By Todd Frankel

KIRKWOOD • This is not that story, the one about how inspiring Sarah Schwegel is. It’s important you know that from the start.

Yes, Sarah graduated from high school in May, on time and with a 3.6 GPA. She starts college on Monday. And she has a form of muscular dystrophy. She uses a power wheelchair to get around. She needs help with everyday tasks. In fact, if you look up the definition of her particular disease on the Muscular Dystrophy Association’s website, you’ll find a picture of Sarah — literally, a photo of her smiling in her wheelchair.

So it’s tempting to think of her in a particular way. Sarah knows this.

Chances are you have read about her, seen her on TV. She was the national MDA goodwill ambassador when she was 8 years old. She played a starring role on the MDA telethon and joked around with Jerry Lewis. She was on the cover of Parade magazine. She threw out the first pitch at a Cardinals game. She still makes public appearances and volunteers. She knows the routine. Sarah even approached this article with the suspicion it would paint her in those familiar tones.

But Sarah wants to shed the expectation that she’s a poster child for anything other than her own life. It’s time. She wants to leave Special Sarah behind.

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