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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