Medicalxpress.com | June 20, 2012
Cedars-Sinai’s Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.
Click HERE or on the image below to read more…
Leave a Comment » | 
California, Research, United States | Tagged: california, research, united states | 
Permalink
Posted by stronwi
Composer Makes Music with Movement
CTV Vancouver Island | June 13, 2012
VICTORIA — A young Victoria musician is releasing his first album, despite a big hurdle.
Ari Kinarthy was told he wouldn’t be able to make music . That changed after he started attending the Victoria Conservatory of Music.
The 22-year-old is living with Spinal Muscular Atrophy; a genetic condition that weakens all the muscles in his body.
Thanks to technology called Soundbeam, Kinarthy can compose his own songs and perform them. It turns his movement into music.
Now he’s released his first album, a collection of nine songs titled The Lion’s Journey.
It is available for sale at the Victoria Conservatory of Music.
Click HERE or on the image below to go to the story…
Leave a Comment » | Adapted Equipment, Canada, Inspiration, Technology | Tagged: adapted equipment, canada, inspiration, technology | Permalink
Posted by stronwi
Man’s best friend adds positive impact to kids with special needs
FOX | June 11, 2012 | By Chris Olberholtz and Matt Stewart
LEAWOOD, KS (KCTV) – Dogs are amazing animals and can do so many things. Now, one national organization is pairing up service dogs with kids with special needs.
An 8-year-old boy from Leawood just brought home his new best friend, and the positive impact it has made in his life is amazing.
Every morning, the parents of 8-year-old Charlie Sykora lift him out of bed and buckle him into his wheelchair so he can get around.
Charlie has Type 1 Spinal Muscular Atrophy, or SMA for short. He can’t walk. It is hard for him to play with other kids his age. He has struggled to make friends. But now he has a new best friend.
Meadow is half lab, half retriever, and she has helped people see Charlie in a different light.
“Charlie had been saying he didn’t want to go out in public because he didn’t like people staring at him, he didn’t like that feeling,” Charlie’s mother, Kim Sykora, said.
Charlie says people never used to come up to him before, only his family and friends.
“With a dog, it opens it up, it gives people a reason to approach,” his mom said.
Click HERE or on the image below to read more and see a great video…
Leave a Comment » | Inspiration, Kansas, Service Dog, United States | Tagged: inspiration, kansas, service dog, united states | Permalink
Posted by stronwi
Angela Wrigglesworth dubbed Klein ISD elementary Teacher of the Year
Cypress Creek Mirror | May 10, 2012
Teaching wasn’t always Angela Wrigglesworth’s career goal. In fact, she likes to joke a fluke incident in college “railroaded” her into becoming a teacher.
Wrigglesworth was diagnosed with spinal muscular atrophy when she was 16-months-old and has been wheel-chair bound nearly all her life.
During her first year at Texas A&M, she planned on getting a degree in business, which included several classes on the other side of campus from her dorm.
One day on her way to an accounting class, she was crossing a set of railroad tracks with a group of students when her wheelchair came to a dead stop. The electric current that was caused by a train that had just passed short circuited her chair mid-way through the tracks. After several minutes of panic and offers by students to help carry her extremely heavy wheelchair out of harm’s way, the chair turned back on. It was in that moment, however, that she vowed to never cross those tracks again.
“Life can lead us down so many paths, and in this particular case, my situation literally put me stuck on some railroad tracks and really changed the direction of my life,” recalled Wrigglesworth.
Click HERE or on the image below to read more…
Leave a Comment » | Inspiration, Texas, United States | Tagged: inspiration, Texas, united states | Permalink
Posted by stronwi
Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy
Press Release | May 3, 2012
Families of SMA is pleased to announce the award of up to $750,000 for an important new grant to Dr. Brian Kaspar at Nationwide Children’s Hospital. This award will support preclinical development of a CNS-delivered Gene Therapy for Spinal Muscular Atrophy. With funding from FSMA, Dr. Kaspar’s team will initiate the studies needed for an Investigational New Drug (IND) application for this therapy to the Food and Drug Administration (FDA).
“Families of SMA is excited to be awarding new goal-directed drug discovery funding for this gene therapy program. This work follows up on a 2010 grant from FSMA to test the age-dependence in primates of this gene therapy. The new funding will allow us to accomplish several key goals simultaneously”, says Jill Jarecki, PhD, FSMA Research Director. “First, it will allow us to advance this very promising new therapy for SMA towards human clinical trials. Second, it will allow FSMA to fund multiple SMA drug programs concurrently, which have different approaches. Doing this will increase our community’s chances of successfully finding a treatment for SMA.”
Click HERE or on the image below to read more…
1 Comment | FSMA, Illinois, Press Release, Research, United States | Tagged: FSMA, illinois, press release, research, united states | Permalink
Posted by stronwi
Scientists measure communication between stem cell-derived motor neurons and muscle cells
Neuroscience | May 5, 2012
In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem cell-derived motor neurons and muscle cells in a Petri dish.
The study provides an important proof of principle that functional motor circuits can be created outside of the body using stem cell-derived neurons and muscle cells, and that the level of communication, or synaptic activity, between the cells could be accurately measured by stimulating motor neurons with an electrode and then measuring the transfer of electrical activity into the muscle cells to which the motor neurons are connected.
When motor neurons are stimulated, they release neurotransmitters that depolarize the membranes of muscle cells, allowing the entry of calcium and other ions that cause them to contract. By measuring the strength of this activity, one can get a good estimation of the overall health of motor neurons. That estimation could shed light on a variety of neurodegenerative diseases such as spinal muscular atrophy and amyotrophic lateral sclerosis, or Lou Gehrig’s disease, in which the communication between motor neurons and muscle cells is thought to unravel, said study senior author Bennett G. Novitch, an assistant professor of neurobiology and a scientist with the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.
Click HERE or on the image below to read more…
Leave a Comment » | California, Research, United States | Tagged: california, research, united states | Permalink
Posted by stronwi
Devastating disease provides insight into development and death of motor neurons
University of California, Los Angeles | April 29, 2012 | By Mark Wheeler
Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.
It’s a particularly cruel disorder, occurring mostly in infants, who begin manifesting symptoms at or soon after birth, with poor muscle tone, difficulty feeding, growth retardation and global developmental delay.
Now, thanks to the cooperation of a California family stricken by the disorder and a state-of-the-art genomic sequencing lab at UCLA, Dr. Joanna Jen, a UCLA professor of neurology, and colleagues discovered a specific mutation of a gene that is responsible for PCH1 in this family, then confirmed mutations in the same gene in several other PCH1 families around the world.
The study appears in the April 29 in the online edition of the journal Nature Genetics.
Click HERE or on the image below to read more…
1 Comment | California, Research, United States | Tagged: california, research, united states | Permalink
Posted by stronwi
Repligen Reports Positive Results From Phase 1 Clinical Trial for Spinal Muscular Atrophy (SMA)
Press Release | April 25, 2012
Repligen Corporation (NASD: RGEN) today announced positive results from a Phase 1 study to evaluate the pharmacokinetic (PK) and safety profile of RG3039, a novel small molecule drug candidate for the potential treatment of spinal muscular atrophy (SMA). SMA is a inherited neurodegenerative disease in which symptoms of progressive damage to motor neurons including loss of muscle function typically appear very early in life and often progress to severe physical disability and early loss of life. The Phase 1 trial was a blinded, ascending, single dose study of RG3039 administered to 32 healthy volunteers. The study results demonstrate that RG3039 was well tolerated at all doses administered, with no serious adverse events reported. The data also showed evidence of a dose-related drug response resulting in 90% inhibition of the target enzyme. These outcomes may help to establish appropriate RG3039 dosing regimens for future studies, including potential efficacy studies in SMA patients.
Click HERE or on the image below to read more…
2 Comments | Clinical Trial, FSMA, Illinois, Press Release, Research, United States | Tagged: clinical trial, FSMA, illinois, press release, research | Permalink
Posted by stronwi
UC Berkeley class prepares disabled students for competitive job market
UC Berkeley News Center | April 23, 2012 | By Yasmin Anwar
Vodpod videos no longer available.If it’s a tough job market out there for able-bodied college graduates, imagine how employment prospects might look to students with cerebral palsy or a muscular or neurodegenerative disease.
Take Jade Theriault, a freshman at the University of California, Berkeley, who uses a wheelchair and worries about how to discuss with a prospective employer the workplace accommodations she will need due to spinal muscular atrophy.
Click HERE or on the image below to read more…
1 Comment | Advocacy, California, Education, United States | Tagged: advocacy, california, education, united states | Permalink
Posted by stronwi
Avery’s Bucket List (Video)
FOX (Houston) | April 17, 2012 | By Sally Macdonald
Vodpod videos no longer available.HOUSTON – A five-month-old Houston baby is on a mission to teach the world about her fatal genetic disease. You’ve likely never heard of Spinal Muscular Atrophy, but 7.5 million Americans carry the gene that causes it.
Doctors have given Avery just 18 more months to live.
“Nothing will ever be the same as far as what’s important,” said Laura Canahuati, Avery’s mommy.
“I don’t want my daughter to die in vain, and I feel like if someone doesn’t tell her story that’s what’s going to happen,” said Mike Canahuati, Avery’s daddy.
Click HERE or on the image below to read more…
3 Comments | Awareness, Inspiration, Texas, United States | Tagged: advocacy, awareness, inspiration, Texas, united states | Permalink
Posted by stronwi
SMAHeadlines.com 