SMAHeadlines.com

At AACC Clinical Lab Expo, Quest Unveils Extensions to Women’s Health, Personalized Medicine Test

August 12, 2011

At AACC Clinical Lab Expo, Quest Unveils Extensions to Women’s Health, Personalized Medicine Test

Press Release | August 2, 2011

Quest Diagnostics Inc. unveiled extensions to its women’s health and AccuType® pharmacogenetic test menus and gave eight scientific presentations and host six scientific speakers during the American Association of Clinical Chemistry (AACC) Annual Meeting and Clinical Lab Expo.

The extensions to the company’s women’s health menu feature Athena Diagnostics’ spinal muscular atrophy (SMA) testing menu, believed to be the most comprehensive in the diagnostics industry. The services, which include adult-carrier screening and pre- and post-natal disease assessment testing, are now nationally available for the first time to physicians, laboratory directors and other clients of Quest Diagnostics. The offerings also position Quest Diagnostics as the only national major laboratory to provide testing services to assess SMA disease severity based on Athena’s analysis of the number of copies of an SMA-associated gene.

Athena Diagnostics, which Quest Diagnostics acquired in April 2011, is a provider of neurology diagnostics and a pioneer in SMA testing, which it has performed since 1996. Prior to the acquisition, select Quest Diagnostics’ business units had offered Athena Diagnostics’ SMA testing services in select regions only.

The SMA adult-carrier screening test detects defects in the survival motor neuron (SMN) 1 gene, which determines an individual’s risk of passing SMA to offspring. The pre- and post-natal disease assessment tests identify the number of copies of the SMN2 gene, which affects disease severity.

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1 Comment | Carrier Screening, Press Release, United States | Tagged: carrier screening, press release, united states | Permalink
Posted by stronwi

Fundraiser turns light on little-known illness

August 12, 2011

Fundraiser turns light on little-known illness

The Sacramento Bee | August 11, 2011 | By Ben Schenkel

Getty Storm is wide-eyed, like most babies. But another unusual trait inspired her parents, Mark Storm and Kate Mathany, to nickname her “owl.”

“She has this depth and wisdom about her – like she was born an old soul,” Mathany said.

Getty shares more with an owl than her calmness and concentrated gaze. Sixteen months old and the namesake of the Getty Owl Foundation, Getty is limited to hooting and cooing. Beginning words like “mama” or “da-da” elude her – and she may never be able to talk.

Getty inherited spinal muscular atrophy (SMA), a genetic disorder that will eventually claim her vocal cords. Just as Getty defies SMA with her every chirp, so have her parents spoken up about the crippling condition.

In March, Storm and Mathany started a foundation to raise local awareness of SMA and support the larger efforts to cure or mitigate it.

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Leave a Comment » | Awareness, California, Fundraiser, Getty Owl Foundation, United States | Tagged: awareness, california, fundraiser, getty owl foundation, united states | Permalink
Posted by stronwi

Boy Raises Money Mountain by Mountain

August 10, 2011

Boy Raises Money Mountain by Mountain

Fenceviewer.com | August 10, 2011 | By Emerson Whitney

BAR HARBOR — Ten-year-old Gus La Casse pumps two raised fists above his head in a heavyweight-champ, Rocky-type of gesture, demonstrating how he felt at the summit of Katahdin last week.

Gus climbed Katahdin as the finale in his series of 26 summit climbs in one month, which he organized as a fund-raiser for research into a rare, life-threatening motor neuron degenerative disorder that affects infants and children, called spinal muscular atrophy with respiratory distress (SMARD).

Gus was introduced to SMARD through Silas Werner, a 17-month-old from Pittsburg, Penn., who was diagnosed with the disease at 3 months old and whose mother began seeking answers from the Jackson Laboratory where Dr. Greg Cox is one of few genetic scientists in the world, committed to studying the disease.

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Leave a Comment » | Fundraiser, Inspiration, Maine, SMARD, United States | Tagged: fundraiser, inspiration, maine, SMARD, united states | Permalink
Posted by stronwi

Kids with disabilities get high-tech boost

August 9, 2011

Kids with disabilities get high-tech boost

The News Journal | August 9, 2011 | By Kelly Bothum

Technology makes our world easier, whether it’s reheating food in a microwave, using GPS to guide us to an unfamiliar location or clicking on the computer to talk face-to-face with someone on the other side of the globe.

But for children with disabilities, technology goes a step further, to help them better understand their own bodies and be part of the world around them. Handheld communication devices can lend a voice to answer a classmate’s question. Motorized wheelchairs allow for spontaneous exploration and discovery. Cochlear implants and other devices make it possible to hear.

Even technology created for the masses, like the iPad, can reduce the disconnect these children may experience and boost fine motor skills. Apps that offer back-and-forth questions and answers encourage socialization and interaction.

Still, there’s an ongoing struggle between developing new technology and meeting the existing needs of people with disabilities, said Cole Galloway, a physical therapy professor at the University of Delaware and one of several local researchers looking at ways to improve movement in children with disabilities.

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Leave a Comment » | Adapted Equipment, Delaware, Technology, United States | Tagged: adapted equipment, delaware, technology, united states | Permalink
Posted by stronwi

One Local Mom Supports Fundraiser Walk For Two Diseases

August 9, 2011

One Local Mom Supports Fundraiser Walk For Two Diseases

KPTM (Fox 42) | August 8, 2011 | By Meghan McRoberts

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One local mom, Jen Peters, is doing what she can to find a cure for her daughter’s disease.

Ella was diagnosed with Spinal Muscular Atrophy 3 days after her first birthday. It is the number one genetic killer of children under 2 years old.

Peters says Ella is already very independent. Peters describes “even though she can’t do all the things that normal kids do she finds a way, she doesn’t always want to be helped, she’s always saying go away, go away, let me do it.” She takes Ella to Physical Therapy every Monday at Children’s Hospital to slow the progression of the disease, and maintain Ella’s strength.

Peters says Ella may never be able to crawl, or walk, but she hasn’t lost all hope. “She can still sit, she has no problems with feeding or breathing yet, she’s just a little bit weak, so our motto is it can always be worse, so were just grateful for how well she’s doing and just keep working with her so she’s able to maintain her strength as best as she can but want to do everything possible to try to make that happen.”

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Leave a Comment » | Fundraiser, Nebraska, Sophia's Cure Foundation, United States | Tagged: fundraiser, Nebraska, sophia's cure foundation, united states | Permalink
Posted by stronwi

Delray Beach artist inspires creativity with positive outlook

August 8, 2011

Delray Beach artist inspires creativity with positive outlook

WPTV.com | August 8, 2011 | By Vince Norman

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DELRAY BEACH, FLA – AJ Brockman is an artist and graphic designer. He’s won awards, and has an ongoing gallery exhibition in Delray Beach. He’s also got SMA, or spinal muscular atrophy.

“I don’t see myself as disabled…I see myself as differently abled. You can’t really do some things that other people are able to do. But the things that you can do, you’re ultra-focused on,” said Brockman.

That focus and attention to detail make the transition from digital to canvas in scenes ranging from the serene, to chaotic.

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Leave a Comment » | Florida, Inspiration, United States | Tagged: florida, inspiration, united states | Permalink
Posted by stronwi

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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Leave a Comment » | New York, Research, United States | Tagged: new york, research, united states | Permalink
Posted by stronwi

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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1 Comment | New York, Research, United States | Tagged: new york, research, united states | Permalink
Posted by stronwi

Mya’s dream finally comes true

August 2, 2011

Mya’s dream finally comes true

The Border Mail | August 3, 2011 | By Di Thomas

WHAT began as one little girl’s dream to help her friend gain her independence yesterday had its sequel when Rajah Sutherland and her family took delivery of a new car.
Rajah, 6, has spinal muscular atrophy, which means she can’t walk and requires a wheelchair to get around.

The Walk for Wheels for Rajah project began earlier this year when Albury’s Mya Irving, 8, who has cerebral palsy, asked why Rajah wasn’t able to get in and out of her parents’ vehicle in her wheelchair, in the same way she was able to.

In April, Mya walked the 1.2 kilometre-length of Dean Street to kick off the fund-raising for the money to buy and modify a car to take a wheelchair.

In the months since, she has raised $40,000 for the car and its modification costs.

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Leave a Comment » | Australia, Fundraiser, Inspiration | Tagged: australia, fundraiser, inspiration | Permalink
Posted by stronwi

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

August 2, 2011

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

Journal of Molecular Therapy | 2011

Adeno-associated virus type 9 (AAV9) is a powerful tool for delivering genes throughout the central nervous system (CNS) following intravenous injection. Preclinical results in pediatric models of spinal muscular atrophy (SMA) and lysosomal storage disorders provide a compelling case for advancing AAV9 to the clinic. An important translational step is to demonstrate efficient CNS targeting in large animals at various ages. In the present study, we tested systemically injected AAV9 in cynomolgus macaques, administered at birth through 3 years of age for targeting CNS and peripheral tissues. We show that AAV9 was efficient at crossing the blood–brain barrier (BBB) at all time points investigated. Transgene expression was detected primarily in glial cells throughout the brain, dorsal root ganglia neurons and motor neurons within the spinal cord, providing confidence for translation to SMA patients. Systemic injection also efficiently targeted skeletal muscle and peripheral organs. To specifically target the CNS, we explored AAV9 delivery to cerebrospinal fluid (CSF). CSF injection efficiently targeted motor neurons, and restricted gene expression to the CNS, providing an alternate delivery route and potentially lower manufacturing requirements for older, larger patients. Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations.

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