September’s legacy: Taking on Harvard in a wheelchair

August 27, 2012

CNN | August 27, 2012 | By Ben Mattlin

For many, back-to-school is a season of anticipation, nostalgia, and shopping. For me, it evokes memories of an unsung historical event: the integration of Harvard.

No, I’m not talking about racial integration; I’m talking about the full inclusion of students with disabilities.

When I entered Harvard College as a freshman in 1980, it happened to coincide with a new requirement — all institutions receiving federal funds had to become fully accessible under Section 504 of the Rehabilitation Act of 1973.

I was a 17-year-old lifelong wheelchair-user, born with a neurological condition called spinal muscular atrophy. I’d never walked or stood and my arms were weak as a baby’s. But, as my parents often said, there was nothing wrong with my head.

I had little awareness of the precedent I was setting.

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Taunton girl battles spinal muscular atrophy

August 18, 2012

Taunton Daily Gazette | July 30, 2012 | By Marc Larocque

About 11 months ago, Ashleigh Jacques was born to a Taunton family, appearing to be a happy and healthy baby.

But at three months old, her parents noticed frightening signs that something was terribly wrong with their daughter. She couldn’t move.

“We were all concerned,” said Ashleigh’s mother, Kristen Jacques, a social worker who lives in East Taunton. “She wasn’t moving at all. She wasn’t rolling over. She couldn’t lift her head. She had a hard time with her hands.”

Three months later, Ashleigh was diagnosed with Type 1 spinal muscular atrophy (SMA), the most severe form of the motor neuron disease. Doctors have given the baby a life expectancy of just two years.

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Ms. Wheelchair Massachusetts encourages others to pursue their dreams

April 15, 2012

Ms. Wheelchair Massachusetts encourages others to pursue their dreams

Community Advocate | April 13, 2012 | By Sue Wamboldt

Marlborough – Most Sunday mornings Patti Panzarino can be found attending church service at Greater Grace Christian Fellowship in Marlborough, 187 Pleasant St. Outside of the sanctuary, she is not only a founding member of the band, OLYPSYS, but she has recently been crowned Ms. Wheelchair Massachusetts.

Panzarino was born with Spinal Muscular Atrophy Type 2 (SMA 2), a genetic disease in which loss of nerve cells in the spinal cord affects the part of the nervous system that controls voluntary muscle movement. Although Panzarino has lived her life in a wheelchair, she has not let her disability get in the way of her dreams.

Panzarino brought her message of empowerment to the Ms. Wheelchair Competition March 3. Her platform of “Creative Perseverance,” born out of life experiences, inspired the judges to crown her Ms. Wheelchair Massachusetts 2012 at the Massachusetts Hospital School in Canton. The mission of the Ms. Wheelchair America Program, and the individual state programs, is to “provide an opportunity for women of achievement who utilize wheelchairs to successfully educate and advocate for individuals with disabilities,” according to the organization’s website

“The platform for my year as Ms. Wheelchair Massachusetts is ‘Creative Perseverance.’ This has actually been the theme of my whole life,” Panzarino said. “I learned to self-advocate from my older sister who mentored me at a very young age. The more that people with disabilities push through obstacles and participate in life, the more people will see us and our acceptance and encouragement to participate increases. It becomes an upward spiral.”

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Biogen Idec and Isis Pharmaceuticals Announce Global Collaboration for Antisense Program Targeting Spinal Muscular Atrophy

January 4, 2012

Biogen Idec and Isis Pharmaceuticals Announce Global Collaboration for Antisense Program Targeting Spinal Muscular Atrophy

Press Release | January 4, 2012

WESTON, Mass. & CARLSBAD, Calif., Jan 04, 2012 (BUSINESS WIRE) — — Biogen Idec’s Expertise in Neurology to Aid in Rapid Development of ISIS-SMNRx —

Biogen Idec BIIB +0.63% and Isis Pharmaceuticals, Inc. ISIS -0.28% today announced that they have entered into an exclusive, worldwide option and collaboration agreement under which the companies will develop and commercialize Isis’ antisense investigational drug, ISIS-SMNRx, for the treatment of spinal muscular atrophy (SMA).

SMA is a genetic neuromuscular disease characterized by muscle atrophy and weakness, and it is the most common genetic cause of infant mortality. One child out of every 10,000 births worldwide is born with SMA. Children with SMA generally appear normal at birth, with symptoms developing as early as a few months after birth, and in the most severe form of the disease, children have a significantly shortened lifespan. Isis’ ISIS-SMNRx is designed to compensate for the underlying genetic defect that causes SMA.

Under the terms of the agreement, Isis will receive an upfront payment of $29 million and is eligible to receive up to $45 million in milestone payments associated with the clinical development of ISIS-SMNRx prior to licensing. Biogen Idec has the option to license ISIS-SMNRx until completion of the first successful Phase 2/3 trial. Isis could receive up to another $225 million in a license fee and regulatory milestone payments. In addition, Isis will receive double-digit royalties on sales of ISIS-SMNRx. Isis will be responsible for global development of ISIS-SMNRx through the completion of Phase 2/3 registrational clinical trials, with Biogen Idec providing advice on the clinical trial design and regulatory strategy. If Biogen Idec exercises its option, it will assume global development, regulatory and commercialization responsibilities.

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A wish come true for a wheelchair-confined girl

November 5, 2011

A wish come true for a wheelchair-confined girl

WHDH-7 (NBC) | October 19, 2011

HINGHAM, Mass. — It was a wish come true for a young girl from Hingham, who is confined to a wheelchair.

The 3-year-old, who suffers from Spinal Muscular Atrophy, has always wanted a dog.

And now her wishful thinking has paid off.

The Make A Wish Foundation stepped in to find her the perfect four-legged friend

As she reached for a hug, 3-year-old Greer Ramsey greeted her new 7-month-old miniature poodle, Sparkles. All thanks to Make A Wish Foundation of Massachusetts and Rhode Island.

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To fully live his life, young Matthew needs wheels

October 18, 2011

To fully live his life, young Matthew needs wheels

The Boston Globe | October 16, 2011 | By Beverly Beckham

H e wants to play hide and seek with his 5-year-old brother, Noah. He wants to see the birds he hears in the trees and the firetrucks that zoom past his house with their sirens on. But he has to wait for someone to carry him to the door to look outside. And birds and firetrucks don’t wait.

Matthew Davidopoulos of Lowell is a typical toddler in so many ways. He’s smart and talkative and curious and bursting to do all that he can. He loves to color and paint and play with his iPad and watch movies (“Cars’’ is his favorite). He has dark blond hair and perfect baby teeth and bright blue eyes.

It’s having spinal muscular atrophy that separates him from most kids his age. It’s being unable to sit or stand or walk or dress himself or even stamp his foot when he gets angry.

He was diagnosed with SMA when he was 8 months old, a week before Christmas. Doctors told his parents, Courtney and Paul, not only that Matthew had a degenerative muscle disease but that he would not live to be 2. They were given a Do Not Resuscitate form to fill out.

Matthew is 2 ½ now, and though his life is not easy, it’s his life. Every night his parents hook him up to a feeding tube to provide the nutrients he needs but cannot get by eating. Every morning they use a machine to clear congestion in his chest that accumulates overnight. Then they bathe and dress him and get him ready for the day. They carry him downstairs, where he has to wear a special vest for about 20 minutes to further loosen congestion. Then he is strapped into a “stander’’ for two to three hours of weight-bearing pressure on his legs. Three times a week, he has physical therapy, once a week he has play therapy and aqua therapy, and once a week he goes to a playgroup with typical kids.

All this, and he is a happy child.

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From skin cells to motor neurons

August 28, 2011

From skin cells to motor neurons

Harvard Gazette | August 26, 2011

A team of Harvard stem cell researchers has succeeded in reprogramming adult mouse skin cells directly into the type of motor neurons damaged in amyotrophic lateral sclerosis (ALS), best known as Lou Gehrig’s disease, and spinal muscular atrophy (SMA). These new cells, which researchers are calling induced motor neurons (iMNs), can be used to study the development of the paralyzing diseases and to develop treatments for them.

Producing motor neurons this way is much less labor intensive than having to go through the process of creating induced pluripotent stem cells (iPSC, iPS cells), and is so much faster than the iPS method that it potentially could reduce by a year the time it eventually takes to produce treatments for ALS and SMA, said Kevin Eggan, leader of the Harvard team.

Importantly, the direct reprograming does not involve the use of any factors known to trigger cancer or any other disease states, and the factors in fact make the fibroblasts, the connective tissue cells that make and secrete collagen proteins, stop dividing.

The work by Eggan, a member of the Harvard Stem Cell Institute principal faculty and an associate professor in Harvard’s Department of Stem Cell and Regenerative Biology (SCRB), and his colleagues builds on and advances work by SCRB co-chair and Professor Doug Melton, who pioneered direct cellular reprogramming, and Marius Wernig of Stanford, who used direct reprogramming to produce generalized neurons.

In a paper given “Immediate Early Publication” online by Cell Stem Cell, the Eggan team reports that the cells they are calling iMNs appear to be fully functional. “One of the most important things we’ve done is show that when you put them into the embryo they function normally like motor neurons,” Eggan said in an interview. “They move to the right place and function on their own.”

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A surprise and chance of independence for wheelchair-bound Wareham woman

July 10, 2011

A surprise and chance of independence for wheelchair-bound Wareham woman | July 10, 2011 | By Brian Fraga

WAREHAM — DaLiza Cardoza thought she was just going to be named an assistant basketball coach.

But when the 18-year-old arrived Saturday at the Wareham Youth Athletic League’s sun-baked courts, she found Patrick Brent standing in front of a 2008 Honda Element, waving a set of keys.

“This is your car,” said Brent, a marketing director for Freedom Motors, a Michigan company that converts vehicles to wheelchair accessibility.

For Cardoza, a recent graduate of Wareham High School who was diagnosed at age 2 with spinal muscular atrophy, the surprise vehicle meant a chance at an independent life as she prepares to attend college this fall.

“I can’t even explain how I feel,” said Cardoza, as she was surrounded by a crowd of beaming friends and relatives.

“It’s a blessing.”

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Repligen Receives U.S. Fast Track Designation and European Orphan Medicinal Product Recommendation for RG3039 for Spinal Muscular Atrophy

June 23, 2011

Repligen Receives U.S. Fast Track Designation and European Orphan Medicinal Product Recommendation for RG3039 for Spinal Muscular Atrophy

Press Release | June 23, 2011

WALTHAM, MA – June 23, 2011 – Repligen Corporation (NASDAQ: RGEN) announced today that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for RG3039, a potential treatment for Spinal Muscular Atrophy (SMA). Fast Track is a process designed to facilitate the development and expedite the review of drugs that treat serious diseases and fill an unmet medical need. Once a drug receives Fast Track designation, frequent communication between the FDA and the sponsor is encouraged throughout the development and review process. In addition, RG3039 has received a positive opinion for orphan medicinal product designation from the European Medicines Agency. European orphan medicinal product designation aims to encourage the development of drugs involved in the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition that affects no more than five in 10,000 persons in the European Union.

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Spinal muscular atrophy: Helping nerve fibers find their way

June 17, 2011

Spinal muscular atrophy: Helping nerve fibers find their way

Vector (Children’s Hospital Boston) | June 17, 2011 | By Nancy Fliesler

Spinal muscular atrophy is sometimes referred to as a “Lou Gehrig’s disease of babies.” About 1 in 40 people carry the defective gene for this untreatable recessive disease, which causes progressive muscle degeneration and is the leading genetic killer of infants and toddlers. Affected children have weak, floppy legs and arms and must go on ventilators, too weak to breathe on their own.

Researchers have had some success in mouse models of spinal muscular atrophy by adding back SMN, the protein that’s missing or abnormal, or getting the mice to produce more of it. The mice live longer, and do seem to have stronger muscles. But not so in human clinical trials to date.

Looking for another approach, Mustafa Sahin in Children’s Neurobiology Program asked a simple question: What does SMN do? Spinal muscular atrophy is a disease of motor neurons in the spinal cord, which tell the muscles to contract. So Sahin teamed up with Judith Steen (who directs the hospital’s Proteomics Core) and ran some neurons through mass spectrometry to find out, first of all, what proteins it keeps company with.

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