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

SouthCoastTODAY.com | 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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Big Meaning in the Smallest Movements

June 3, 2011

Big Meaning in the Smallest Movements

BU Today | June 2, 2011 | By Robin Berghaus

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Born with spastic quadriplegia and cerebral palsy, 49-year-old Rick Hoyt has never been able to speak or use his hands to write. But that doesn’t mean he can’t communicate.

Hoyt (left, SED’93), who is best known for competing in more than 1,000 races, pushed in a wheelchair by his father, Dick Hoyt, is testing assistive technology developed through a decadelong collaboration between Margrit Betke, a College of Arts & Sciences associate professor of computer science, and James Gips, a Boston College professor of computer science, with help from more than 50 students.

Camera Mouse, a tool for people with medical conditions such as cerebral palsy, spinal muscular atrophy, ALS, multiple sclerosis, and traumatic brain injury, employs a computer webcam to lock onto and track a chosen section of the user’s face—a nostril or the tip of an eyebrow, for example—and then links that person’s head movement to a cursor on the screen. Move right and the cursor goes right. If Hoyt pauses for more than one second, dwelling over a button or link, it clicks to active.

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‘The Amazing Race’ meets ‘Survivor’ in Lowell — and it’s all for charity

May 31, 2011

‘The Amazing Race’ meets ‘Survivor’ in Lowell — and it’s all for charity

LOWELL — Ever worn a bologna mask? Careened down a 200-foot Slip and Slide covered in chocolate syrup and soap bubbles? Kissed a dog’s um … hindquarters?

No? Well, then you’ve never participated in SmithFest.

“It is like a mix of The Amazing Race, Survivor and the craziest scavenger hunt you could ever imagine,” Fred Smith, 31, says of the massive, one-day extravaganza that last year raised $5,000 for Kids in Disability Sports.

This year, the event, scheduled for Oct. 1 at Lowell Memorial Auditorium, will benefit the Make-A-Wish Foundation of Massachusetts and Rhode Island, and Families of Spinal Muscular Atrophy.

The latter is in honor of Coby Kulis, the 5-month-old son of Dave and Lori Kulis of Methuen who died of the devastating motor neuron disease earlier his year. SMA is the number-one genetic killer of children under the age of 2, affecting 1 in every 6,000 babies.

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Child’s death inspires half marathon runners

March 8, 2011

Child’s death inspires half marathon runners

SouthCoastTODAY.com | March 8, 2011 | By Don Cuddy

NEW BEDFORD — It is difficult to imagine the grief that accompanies the death of a 2-year-old child. But the Simmons family of New Bedford has found solace in the knowledge that the loss of their son, Owen, to a childhood disease in 2009 has inspired dozens of men and women to get out and train for this year’s New Bedford Half Marathon.

The runners are dedicating their efforts to raise awareness of spinal muscular atrophy, a leading cause of death in infants and toddlers. One in 6,000 babies is born with SMA, a motor neuron disease that attacks voluntary muscle movement and leaves children trapped inside their own bodies.

Many of the runners are novices but have drawn inspiration from the leadership of Stephen Taylor, a resource police officer at New Bedford High School. Andrew Simmons, Owen’s father, is a New Bedford police detective and a colleague of Taylor.

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Repligen’s Promising Potential in 2011

December 23, 2010

Repligen’s Promising Potential in 2011

Seeking Alpha | December 24, 2010 | By Patrick Crutcher

Repligen Corporation (RGEN) is another attractive biotech that has revenues, cash and pending data in early 2011. With pending Phase 2 and Phase 3 data, Repligen seems set for a transformative 2011. Specifically, it has two important clinical catalysts in Q1 2011: Phase 3 data for RG1068 (pancreatic imaging agent) and Phase 2b data for its bipolar drug (RG2417). Both of these catalysts have the potential to take RGEN to new levels in 2011.

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