iPads help open doors in Rochester schools

March 6, 2012

iPads help open doors in Rochester schools

Democrat And Chronicle | March 2, 2012 | By Tiffany Lankes

For most of her years in school, 10-year-old Haydee Lopez’s ability to participate in class was extremely limited.

The School 29 student has spinal muscular atrophy, which is slowly eroding her physical strength and has confined her to a wheelchair. The muscles in her hands are so weak that Haydee cannot hold a pencil. Her reach extends just a few inches from her body, so she cannot use a keyboard. While her body lacks physical strength, her mind is sharp, and helping her express herself is a constant challenge for her teachers.

But despite her limitations, this school year Haydee wrote her first report. Using an iPad, she was able to type out full sentences to demonstrate what she learned about dolphins.

“I think this is the first time she ever saw something she did from beginning to end,” said her teacher, Becky Robbins.

Haydee’s story highlights the success some city schools are seeing as they use the latest technology trend to help their special education students.

While other schools and districts have taken a broader approach to buying iPads — some putting them in the hands of every student at every grade level — Rochester is taking a more focused approach, targeting students in the primary grades and those with disabilities.

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Fulton man’s memoir demonstrates the power of a fighting spirit

December 22, 2011

Fulton man’s memoir demonstrates the power of a fighting spirit

Syracuse.com | December 19, 2011 | By Sara Tracey

Craig Abbott’s autobiography begins at what could have been the end: He was dying.

At 18, one of his hundreds of cases of pneumonia turned into something worse. An ambulance was called when Abbott had difficulty breathing, made more difficult by his spinal muscular atrophy type 1, a disease that can weaken the muscles used for breathing and coughing.

On the drive to the hospital, the cough assist machine in the ambulance that would clear his lungs to improve his breathing wasn’t working. He passed out while the ambulance staff used a manual respirator to breathe for him. He came back to consciousness 13 hours later, hooked up to another breathing machine.

Abbott, now 23, of Fulton, said he opened his book “Classified Terminally Ill: A Young Man’s Story of Beating the Odds,” with this incident because of his fighting spirit. It’s a resilience that friends say Abbott has possessed his whole life.

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Roche Enters Race to Cure Genetic Disease With $490 Million Deal

November 30, 2011

Roche Enters Race to Cure Genetic Disease With $490 Million Deal

Press Release | November 30, 2011 | By Robert Langreth

Roche Holding AG will pay as much as $490 million for experimental drugs from PTC Therapeutics Inc. to treat a genetic muscle-weakening disease, in a deal that sets up a race with rival Novartis AG.

The Basel, Switzerland-based drugmaker will pay closely held PTC Therapeutics $30 million up front, and another $460 million if a drug for spinal muscular atrophy achieves certain regulatory and commercial goals, the companies said today in a statement. PTC, based in South Plainfield, New Jersey, would also get royalties on sales of drugs from the collaboration.

Spinal muscular atrophy afflicts 18,000 people in the U.S. and Europe and causes progressive muscle weakness, according to the Spinal Muscular Atrophy Foundation. Kids with severe cases die within a few years, while those with mild cases can live a normal lifespan with disabilities. There are no approved medicines to treat the causes of the rare disorder, said Luca Santarelli, senior vice president of neuroscience at Roche.

“There are absolutely no therapeutic options for these children,” said Santarelli in a phone interview. “It is a frightening disease.”

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Antisense therapy delivers long-term correction of severe spinal muscular atrophy in mice

October 5, 2011

Antisense therapy delivers long-term correction of severe spinal muscular atrophy in mice

Press Release | October 5, 2011

Findings reveal that deficiency of the SMN protein in peripheral tissues might also contribute to SMA pathology

Cold Spring Harbor, N.Y. – A new study from Cold Spring Harbor Laboratory (CSHL) reports surprising results that suggest that the devastating neuromuscular disease, spinal muscular atrophy (SMA), might not exclusively affect the motor neurons in the spinal cord as has long been thought. The new findings suggest that defects in peripheral tissues such as liver, muscle, heart, etc., might also contribute to the pathology of the disease in severely affected patients. The study, which also paves the way for a potential SMA drug to enter human trials by the end of the year, appears in Nature on October 6.

These insights stem from experiments that tested the new candidate drug, which the CSHL scientists helped develop, in a mouse model of very severe SMA. In this system, the candidate drug dramatically suppressed symptoms when simply injected under the animals’ skin. “These systemic, or subcutaneous, injections, extended the lifespan of mice that have the equivalent of severe human SMA by 25-fold,” reports CSHL’s Professor Adrian Krainer, Ph.D., who led the CSHL team in collaboration with a group led by Dr. Frank Bennett of California-based Isis Pharmaceuticals.

“However, we have yet to determine whether these findings are unique to this animal model of severe SMA—and by extension, relevant only to the patients with the most severe disease —or if they will be valid in other SMA types that manifest with milder, less severe symptoms,” cautions Dr. Bennett.

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Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

September 8, 2011

Mogul Using $100 Million in Race to Cure Daughter Lures Novartis

San Francisco Chronicle | September 8, 2011 | By Robert Langreth and Alex Nussbaum

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Goldman Sachs Group Inc. (GS) partner Dinakar Singh discovered in 2001 that his 19-month-old daughter, Arya, had a crippling genetic disease called spinal muscular atrophy.

The malady makes the nerve cells that control muscles gradually deteriorate. There are no treatments, let alone a cure, Bloomberg Markets magazine reports in its October issue. Worse still, while the gene causing the ailment had recently been discovered, nobody in the drug industry was doing much about it, he says.

“I was fearful and anxious that treatments would be developed, but far too late to save Arya,” says Singh, 42, who founded and runs New York hedge fund TPG-Axon Capital Management LP, which has $8.1 billion in assets. “We didn’t want to find out 25 years later that the science was really there but there isn’t a drug because nobody focused on it.”

Singh, who left Goldman in 2004, has spent almost $100 million of his own money to create and fund the Spinal Muscular Atrophy Foundation. He wants to discover and develop a drug that he hopes will help his daughter, who is one of 25,000 SMA patients in the U.S. Children with severe forms often die within a few years, while those with mild cases can live a normal life span with supportive care. Arya, 11, and starting sixth grade, uses a wheelchair.

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SMA: Wider ‘Window of Opportunity’ for Treatment?

August 8, 2011

SMA: Wider ‘Window of Opportunity’ for Treatment?

Quest | August 4, 2011 | By Margaret Wahl

The “window of opportunity” for treating infants at risk of developing spinal muscular atrophy (SMA) may not be as narrow as some experts have feared, new experiments in mice suggest.

MDA research grantee Umrao Monani at Columbia University Medical Center in New York coordinated the scientific team, which published its results Aug. 1, 2011, in the Journal of Clinical Investigation. (See Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.)

Monani described the “window of opportunity” as “the period between the birth of the child and the last point in time during which the motor unit [nerve cell and the muscle fibers it activates] can be rescued.”

This window may be “open” for a few weeks or a few months after birth, and may extend into the period when the child begins to show SMA symptoms, Monani said. “I suspect that if the patient can be treated during this period, he or she will benefit greatly.”

This finding, if confirmed in humans, further bolsters the case for newborn screening of infants for SMA. It also is good news for the potential use of several treatments for SMA currently in development.

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Induced Stem Cells Promise ‘A Whole New Way To Do Medicine’

August 8, 2011

Induced Stem Cells Promise ‘A Whole New Way To Do Medicine’

The Jewish Daily Forward | August 8, 2011 | By Ariel Bleicher

In Petri dishes inside Dr. Lorenz Studer’s lab, translucent clumps of human cells multiply in nutrient baths the color of red Kool-Aid. Under a microscope, the cells look round and gelatinous, like mounds of miniature eyeballs.

“You can’t tell by looking at them, but there’s something wrong in the genetic code,” said Studer, a professor of developmental biology at the Memorial Sloan-Kettering Cancer Center in New York.

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Alumna Fights SMA One Step at a Time

July 7, 2011

Alumna Fights SMA One Step at a Time

Manhattan College | Spring 2011 Magazine

MANY PEOPLE RUN to stay in shape and achieve a personal best time, but Lauren Lundy O’Connor ’02 is running for a cause. Since 2008, O’Connor and her SMA (spinal muscular atrophy) Asics have been hitting the pavement to raise funds to support the research of SMA and to find a cure.

SMA is the No. 1 genetic killer of infants and young children and results in the loss of nerves in the spinal cord and the weakness of the muscles connected with those nerves. When O’Connor’s nephew Owen was diagnosed with SMA in 2008 at just two months and passed away three months later, she was motivated to start running for a cause, and founded teamrun4owen.com, a website that features information about SMA, Owen’s story, details on upcoming races, donation opportunities and more.

In October 2008, O’Connor ran the Dublin marathon and raised $6,000 for SMA, and all of the proceeds were donated to Columbia University’s Spinal Muscular Atrophy Clinical Research Center. Two years later, Michael Van De Loo ’94 connected with O’Connor through her website after he found out his daughter Ciara had SMA.

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Rockville Centre’s woman of distinction

June 1, 2011

Rockville Centre’s woman of distinction

LIHerald.com | June 2, 2011

Rockville Centre resident Debbie Cuevas was recently honored as one of the state Senate’s 2011 women of distinction. She joined other notable women at a reception on May 24 in the State Capitol building. Created in 1998, the Women of Distinction program honors outstanding women from across New York state who exemplify personal excellence, or whose professional achievements or acts of courage, selfless integrity or perseverance serve as an example to all New Yorkers.

“I am proud to honor Rockville Centre’s Debbie Cuevas as my 2011 Woman of Distinction,” said Senator Majority Leader Dean Skelos in a written statement. “Ms. Cuevas is mother, friend, nurse, caregiver, physical therapist, [spinal muscular atrophy] activist, and much more rolled into one. A true pioneer, Ms. Cuevas founded the Greater New York Chapter of Families of SMA in 2006, as a way to give back to her community. As [its] president [she] is instrumental in serving over 500 families who have been affected by Spinal Muscular Atrophy and continues to make a positive difference in the lives of others every day.”

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A Dog, a Wheelchair and a Story of Dedication and Redemption

April 19, 2011

A Dog, a Wheelchair and a Story of Dedication and Redemption

ScarsdalePatch | April 18, 2011 | By Marisa Iallonardo

A black lab named Lex not only came to John Clark’s rescue physically, but also helped him triumph creatively.

“On either side of the driveway out there, we’ve got shag bark hickory trees. If you’re a baseball player or you know baseball players, hickory is a hard wood, and that’s what they make baseball bats out of. Well, those nuts are very hard. There was a nut lodged between two of the flagstones in the walkway, and I didn’t see it,” said Clark, a Scarsdale resident who was diagnosed with progressive spinal muscular atrophy, type 3, and is in a wheelchair.

“So I ran over it, and it should have split,” Clark said. “It should have smashed and there should have been no more to say about it. But it didn’t, and it sent me into an uncontrolled spin where I would up wedged against the stucco wall, hanging out of the wheelchair with three right wheels off the ground. I’m hanging there over the precipice of this driveway, and [Lex] went into action without being told.”

The dog moved from the right to left sides of the chair, pushing it until it was straight, according to Clark.

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