SMA Gene Associated with Sporadic ALS

February 15, 2012

SMA Gene Associated with Sporadic ALS

MDA/ALS NewsMagazine | February 10, 2012 | By Amy Labbe

Duplications (extra copies) of the SMN1 gene are a “major” risk factor for developing sporadic (noninherited) ALS (amyotrophic lateral sclerosis), a team of scientists based in the Netherlands and United Kingdom has reported.

The SMN1 gene also is implicated in the motor neuron disease spinal muscular atrophy (SMA). Deletions or mutations in the SMN1 gene (SMN stands for “survival of motor neurons”) lead to a deficiency of SMN protein and are the underlying cause of SMA.

ALS and SMA both are diseases in which muscle-controlling nerve cells called motor neurons degenerate and die, leading to profound muscle weakness and, eventually, paralysis.

The research team, including corresponding author L.H. van den Berg at the University Medical Center Utrecht in Utrecht, the Netherlands, described its findings online Feb. 8, 2012, in Neurology. (See SMN1 gene duplications are associated with sporadic ALS.)

Further research is needed to determine how SMN1 gene duplications raise the risk of developing ALS, and any potential for SMN1-based ALS biological markers (biomarkers) or therapies.

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MDA Commits $12 Million to Neuromuscular Disease Research

February 1, 2012

MDA Commits $12 Million to Neuromuscular Disease Research

Quest Magazine | February 1, 2012 | By Amy Labbe

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

MDA’s Board of Directors reviewed and approved the new grants based on recommendations from the Association’s Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.

Recent scientific advances have led to increased funding in promising new areas of research, including development of therapies that not only slow and stop neuromuscular diseases, but also reverse damage caused by the disease processes. The goal in many of the projects is to develop new therapies or to make current therapies better.

“It is exciting that several of these new basic research projects are focused on the development of new therapeutic strategies,” noted MDA Vice President of Research Sanjay Bidichandani.

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Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

December 19, 2011

Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

Press Release | December 19, 2011

CARLSBAD, Calif., Dec. 19, 2011 /PRNewswire/ — Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA). SMA is a severe motor-neuron disease that is the leading genetic cause of infant mortality. Isis is developing ISIS-SMNRx as a potential treatment for all Types of SMA.

“SMA is a devastating disease that leads to the loss of motor neurons resulting in muscle weakness and respiratory failure in children. The genetic cause of this disease is well understood, but there are currently no effective disease-modifying therapies. Currently, treatment of SMA is entirely symptomatic and focuses on preserving muscle strength and lung function by physical therapy and assisted ventilation. This supportive approach has improved the natural history of SMA by extending life expectancy, but muscle weakness and atrophy are not affected. A disease-modifying drug like ISIS-SMNRx that specifically targets the cause of the disease could, for the first time, restore muscle strength and respiratory function and dramatically improve the children’s function and quality of life,” said Darryl C. De Vivo, M.D., Sidney Carter Professor of Neurology and Pediatrics and Co-Director of the Motor Neuron Center at Columbia University Medical Center.

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USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

October 18, 2011

USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

HealthCanal.com | October 13, 2011

The disease is heartbreaking. It turns babies into ragdolls and extinguishes lives just as they are getting started. But one USC scientist is working to unravel the mystery behind the leading genetic cause of infant mortality, uncovering how Spinal Muscular Atrophy disconnects muscles from the mind.

Spinal Muscular Atrophy, or SMA, is a neurodegenerative disease caused by a recessive gene mutation that results in a deficiency of the Survival of Motor Neuron, or SMN, protein. In a phenomenon called “denervation,” neurons lose their physical connection to muscles, resulting in a loss of motor control and muscle weakness.

A team of researchers lead by Chien-Ping Ko of the USC Dornsife College of Letters, Arts and Sciences has generated the first extensive study of severe denervation occurring in specific muscles affected by SMA. The data allows them to measure the effectiveness of drug treatments, and will act as a springboard for future research that explores the cause of SMA.

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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

Vodpod videos no longer available.

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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Representative Pete Olson makes a muscle and a difference for MDA

August 23, 2011

Representative Pete Olson makes a muscle and a difference for MDA

Fort Bend Star | August 10, 2011

On Wed., Aug. 10, Representative Pete Olson (R – Sugar Land) and Deputy District Director Robert Quarles met with several representatives of the Muscular Dystrophy Association (MDA) as part of MDA’s Fly Out to discuss Transitions Services and the obstacles faced by adults living with pediatric diseases. Each year in the United States, nearly half a million youth with disabilities and chronic health conditions cross into adulthood — and the numbers continue to grow. However, barriers continue to exist for young people seeking higher education, employment and independent living.

Tomas Diaz, a 22-year-old living with Spinal Muscular Atrophy (SMA) Type II and former MDA Goodwill Ambassador, spoke with Representative Olson about middle-class young adults who don’t have the financial resources to support themselves and who also don’t qualify for government assistance.

“The greatest need in our quest for independence is finding qualified live-in attendants to help with everyday necessities,” said Diaz, who is also pursuing a master’s degree at St. Thomas University in Houston. “What if there is an emergency at my house and I can’t get out of bed? Unfortunately, private insurance and the Department of Aging will not cover the cost of an attendant living in a patient’s home.”

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