Music gives disabled man a voice

August 26, 2012

Times Colonist | August 25, 2012 | By Amy Smart

Ari Kinarthy has a severe genetic disability that causes his muscles to waste away. He has been wheelchair-bound since age six – first manual, now electric.

At 23, his health is so fragile that the common cold puts him in the hospital several times a year.

But you wouldn’t know any of that, listening to his debut album, The Lion’s Journey, released June 12. Despite the very limited mobility caused by his Type-II spinal muscular atrophy, Kinarthy was able to compose and record jazz, rock and orchestral tracks, using a technology called Soundbeam.

He says it’s given him a new sense of purpose.

“I love to create things, the joy of creation is really what inspires me,” he said. “I never thought at the beginning that this would be a potential profession for me, but I do consider myself a composer and professional musician now.”

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Composer Makes Music with Movement

June 15, 2012

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.

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New approach for treating genetic muscle wasting disease shows promise in mice

March 6, 2012

New approach for treating genetic muscle wasting disease shows promise in mice | March 6, 2012

OTTAWA — Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular atrophy (SMA) from 30.5 days to more than 300 days.

The study is published today in BioMed Central’s open access journal BMC Medicine, by Dr. Rashmi Kothary, his graduate student Melissa Bowerman and others.

SMA is the leading inherited cause of death in infants and toddlers, affecting approximately 25,000 people in Canada and the United States. Scientists have known for many years that this disease is caused by inherited mutations in a gene called survival motor neuron 1 (SMN1). Most early attempts at developing treatments for SMA focused on replacing this gene, however, Dr. Kothary’s group has focused on understanding and targeting the physiological defects present in certain nerve cells with SMA. These cells have a weakened internal scaffold, which hinders their ability to connect with muscle cells and contributes to the severe muscle weakness associated with SMA.

Two years ago, Dr. Kothary and his team showed that a laboratory compound called Y-27632, which targets an enzyme that is involved in maintaining the cellular scaffold, could greatly increase lifespan in a certain mouse model of SMA. In this new study, they tested a compound called fasudil, which is similar to Y-27632, but has the advantage that it has already been approved for human clinical trials for other conditions, meaning that it could possibly be re-targeted to use in clinical trials for SMA more quickly than a completely new drug.

The Kothary group found that fasudil-treated SMA mice survived for an average of more than 300 days, compared to just 30.5 days for untreated SMA mice. However, the average lifespan of fasudil-treated SMA mice was still only about half as long as that of normal mice. Fasudil-treated SMA mice also had larger muscle fibres than the untreated SMA mice, and they behaved more normally with respect to grooming and other regular activities. However, they did not perform any better in strength and balance tests and they still had low numbers of motor neurons, which is typical for SMA.

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Beating the odds against Spinal Muscular Atrophy

February 15, 2012

Beating the odds against Spinal Muscular Atrophy

The Chronicle | February 15, 2012 | By François Lemieux

There are things in life we take for granted, like walking, eating, or using our muscles for the basics of day-to-day activities we need to get through work or school. Eleven-year-old Sammy Cavallaro doesn’t have this luxury. He has Spinal Muscular Atrophy (SMA), a motor-neuron disease that confines him to a wheelchair and impairs his muscular movements.

On Feb. 18, Sammy’s family is organizing a major fundraiser to generate awareness of the little-known disease and to raise funds for research. The event, called ‘Sammy’s Valentine Gala’, will take place at 6600 Montée de Liesse in Ville St. Laurent.

“It’s like an Italian dinner; we eat, we drink, we dance, there is a silent auction, there are raffle prizes, just a lot of fun and you give to a great cause,” said Sammy’s mother Rosa Cavallaro, last week. “Every year we do a fundraiser, around Valentine’s Day. This is our ninth one.”

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New Class of Stem Cell-Like Cells Discovered in Spinal Cord Offers Possibilities for Spinal Cord Repair

September 15, 2011

New Class of Stem Cell-Like Cells Discovered in Spinal Cord Offers Possibilities for Spinal Cord Repair

Press Release | September 15, 2011

SEATTLE, Sept. 15, 2011 /PRNewswire/ — The Allen Institute for Brain Science announced today the discovery of a new class of cells in the spinal cord that act like neural stem cells, offering a fresh avenue in the search for therapies to treat spinal cord injury and disease. The published collaborative study, authored by scientists from the University of British Columbia, the Allen Institute for Brain Science and The Montreal Neurological Institute and Hospital at McGill University and titled “Adult Spinal Cord Radial Glia Display a Unique Progenitor Phenotype,” appears in the open access journal PLoS One.

The research team utilized the Allen Spinal Cord Atlas, a finely detailed genome-wide map of gene expression throughout the mouse spinal cord, to compare the genes expressed, or turned on, in adult spinal cord radial glia with those found in other neural stem cells, revealing a signature set of 122 genes that indicate the likeness of these cells to classic neural stem cells.

The nervous system has historically been thought to be incapable of repairing itself, as the cells used to create it are exhausted during development. With the identification of these new stem cell-like radial glial cells, it may be possible to activate a certain set of genes in order to encourage those cells to reconstruct a damaged network in the adult spinal cord.

“By using the Allen Spinal Cord Atlas, we were able to discover a brand new cell type that has previously been overlooked and that could be an important player in all manner of spinal cord injury and disease, including multiple sclerosis and ALS,” said Jane Roskams, Ph.D., neuroscientist at the University of British Columbia and senior author of the study.

From disabled veterans to those afflicted with Lou Gehrig’s disease (ALS) or Spinal Muscular Atrophy, spinal cord related diseases and disorders affect people of all ages including nearly one-quarter of a million Americans who have suffered from a spinal cord injury; as many as 30,000 Americans who suffer from ALS at any given time; and approximately 2.5 million people worldwide who suffer from multiple sclerosis.

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Pregnancy hormone has unprecedented, powerful effect on spinal muscular atrophy

July 25, 2011

Pregnancy hormone has unprecedented, powerful effect on spinal muscular atrophy

Press Release | July 25, 2011

‘Biggest increase anyone has seen’ in the production of essential compound for deadly childhood disease

OTTAWA – July 25, 2011 – Researchers in Ottawa report new hope for the treatment of infants born with serious genetic disorder.

Over 1000 children in Canada are affected with Spinal Muscular Atrophy (SMA), a genetic disorder that causes muscle weakness and loss of motor control. In its most severe form survival of children with SMA beyond 5 years is rare. Although the disorder is caused by the loss of a specific gene, all infants and children with SMA have an untouched highly similar gene within their genetic make up. Activation of this copy gene has the potential to treat SMA, and thus has been a goal of researchers around the world. Now, researchers at the Children’s Hospital of Eastern Ontario Research Institute in Ottawa report the strongest such activation yet observed with attendant benefit on mice genetically engineered to have SMA.

PhD student Faraz Farooq working in the laboratory of University of Ottawa professor, Alex MacKenzie has discovered that the pregnancy hormone Prolactin, a Canadian discovery in itself, not only activates the copy gene but if given over time extends the lifespan of SMA mice by up to 60%. The research report is published today in the Journal of Clinical Investigation.

“Prolactin causes a dramatic regulation of copy gene SMN2 which results in high production of SMN protein, resulting in the extension in the lifespan of mice with SMA,” said Mr. Faraz Farooq. “Labs around the world have been trying to produce more protein from copy gene SMN2 but with Prolactin (an insulin like protein) we’re seeing up-regulation that’s more than tenfold. It’s the biggest increase anyone has yet seen in the SMA Field with any potential therapeutic compound. This represents a significant advance in search for a therapy for this disease.”

The laboratory testing of Prolactin on SMA not only shows an extended lifespan but also improved motor control. Prolactin has been used in clinical trials for unrelated studies, so it is expected that the path between pre-clinical validation and actual clinic trials of Prolactin with SMA patients will be reasonably short.

“News of prolactin’s role and effectiveness in SMN regulation breathes fresh hope into all of the SMA community,” said Martha Slay, president and co-founder of FightSMA. “FightSMA congratulates Dr. MacKenzie and his colleagues on this exciting breakthrough in SMA research.”

“We believe we’re moving in the direction of an effective pre-symptomatic treatment of kids with SMA,” said Dr. Alex MacKenzie, principal investigator, CHEO Research Institute. “We want to somehow stop the progress of this disorder in its tracks, and let our tiniest patients build strength. Today’s findings are not curative, but we think this is a breakthrough discovery. Hopefully by using different approaches to increase SMN protein we can develop a combination therapy for the treatment of SMA.”


About the CHEO Research Institute: Established in 1984, the CHEO Research Institute coordinates the research activities of the Children’s Hospital of Eastern Ontario (CHEO) and is one of the institutes associated with the University of Ottawa Teaching Hospitals. The Research Institute brings together health professionals from within CHEO to share their efforts in solving paediatric health problems. It also promotes collaborative research outside the hospital with partners from the immediate community, industry and the international scientific world.

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Gene splicing breakthrough gives hope to cystic fibrosis sufferers

July 18, 2011

Gene splicing breakthrough gives hope to cystic fibrosis sufferers

The Globe and Mail | July 15, 2011

Understanding genetic disorders like cystic fibrosis could be easier after researchers at a B.C. university made a breakthrough in gene splicing.

Stephen Rader, a chemistry professor at the University of Northern British Columbia, said researchers have discovered that an RNA molecule previously thought to play no role in gene splicing is, in fact, essential.

Researchers have also discovered a new way to study what the U4 molecule does, a problem Prof. Rader said scientists have grappled with for about three decades.

“Splicing is so important in our bodies that if anything goes wrong with it, it causes various kinds of disease, including cystic fibrosis and a whole slew of others. The idea then is that what we learn about how splicing happens normally will help us to understand what goes wrong in these diseases,” he said in an interview.

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Maple Ridge students making wishes come true

June 17, 2011

Maple Ridge students making wishes come true | June 17, 2011 | By Colleen Flanagan

Students at Alexander Robinson will be making a sick little girl’s dream come true this year.

After raising $2,783.06 for the Make-A-Wish Foundation of B.C. and Yukon, they learned that they will be sending an 11-year-old girl suffering from Spinal Muscular Atrophy (SMA), to see Glee in concert in Toronto and to also meet the cast.

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Saanich yard transformed into mini-Disneyland for precious birthday

June 13, 2011

Saanich yard transformed into mini-Disneyland for precious birthday

Times Colonist | June 13, 2011 | By Larissa Johnston

Mickey and Minnie Mouse, princesses and a live band playing Coldplay and Justin Bieber covers: it’s any six-year-old girl’s dream birthday party.

But it was especially a dream come true for Shira Fisher, who used to celebrate with cake every month because she was born with muscle degeneration and weakness of spinal muscular atrophy.

“We celebrate a lot of things more than we ever have,” said her dad, Bradly Fisher.

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Run founder still on move

May 17, 2011

Run founder still on move | May 17, 2011 | By Teresa Latchford

Louise Smith is still on the run.

Although the Newmarket native has moved up north, she remains involved in the organization of the local Rebecca Run, an event she founded a decade ago.

The first race at Fairy Lake raised $90,000 for spinal muscular atrophy (SMA) research to find a cure for the neuromuscular disease that leads to muscle degeneration and weakness. The progressive disease results in the inability to walk, crawl, hold one’s head up, swallow and, eventually, breathe.

Her vision, determination and the event’s impact on the community snagged her a 2011 Mothers of Distinction award.

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