Researchers at the Neurogenetics Laboratory at the University of Miami (Fla.) announced earlier this month that they’ve identified the gene responsible for a rare X-chromosome-linked form of spinal muscular atrophy.

Led by Dr. Lisa Baumbach-Reardon and supported by the Muscular Dystrophy Association (MDA), the research team found that flaws in the UBE1 gene cause the X-chromosome form of the disease, which affects male babies and occurs in a small percentage of SMA cases. Its exact incidence is unknown.

To learn more, read the news release on the MDA website.

Technorati Tags: Lisa Baumbach Reardon, mda, muscular dystrophy association, sma, spinal muscular atrophyLisa Baumbach Reardon, mda, muscular dystrophy association, sma, spinal muscular atrophy

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Gail Hatchard probably didn’t expect to have a hit song on her hands, but at least in one part of Canada … she does. A story this week in the Chronicle Herald of Nova Scotia tells of how Ms. Hatchard penned a poem one night about her granddaughter, Katie, who has spinal muscular atrophy. She took it to her friend, Janice Sheridan, who put it to music. Ms. Sheridan later took the song to a recording studio … and the rest is history.

Ms. Sheridan put the words to music and the song was recorded at the Riverview Digital Recording Studio in Bear River, with studio owner Blair Cromwell on guitar.

The first 500 CDs sold quickly and only 175 remain of the second batch of 500.

If they continue to sell well, a corporate sponsor will be sought for the next batch. Fifty were also shipped and sold in Ontario. All proceeds go toward research for finding a cure for the disease.

“I’m very pleased,” Mrs. Hatchard said about the poem. “It’s gone beyond my wildest expectations. I had no idea it would be so well-received.”

She added, “It’s amazing to me that those simple little words went so far.”

Mrs. Hatchard said the money isn’t much compared to the millions required to find a cure.

“But it’s our little part.”

Visit the Chronicle Herald website to read the entire story, and learn how you can order your own copy of the CD.

Technorati Tags: sma, sma kids, spinal muscular atrophysma, sma kids, spinal muscular atrophy

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The year 2007 was an exciting time for a number of reasons, and 2008 looks to be just as eventful. In this new episode of Fighting Back Podcast, we talk with two disease researchers! Dr. Alex MacKenzie is Director of the Research Institute at Children’s Hospital in Ontario. Chris Lorson conducts his research at the University of Missouri in Columbia and is also Fight SMA’s Science Director.

To hear Episode 11 of Fighting Back, you have several options. You can listen using the Flash mp3 player above. Or, if you’re a fan of podcast RSS feeds, you can use the Fighting Back Podcast Feed in your favorite feed reader. If you’re an iTunes user you can subscribe and download via our iTunes store. Finally, you can, of course, download this episode using the link above.

If you have feedback, a comment or question, or are interested in having Fighting Back tell your story, please contact us via the Fight SMA contact page. You can also leave a message in the form of a comment on this blog as well.

Technorati Tags: disease research, podcast episode, sma, spinal muscular atrophydisease research, podcast episode, sma, spinal muscular atrophy

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After a long hiatus, Fighting Back Podcast is coming back! A new episode of the podcast, produced for Fight SMA and FighterMom, will be published on this blog tomorrow morning. Episode 11 of Fighting Back will feature interviews with disease researchers Dr. Chris Lorson and Dr. Alex MacKenzie. The doctors will talk look back at advances in SMA and other disease research in 2007. They’ll also talk about what could happen in 2008. Don’t miss it!

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Researchers at the University of Deleware are working to develop robotic vehicles that they believe could help young disabled children by allowing them to explore their environment. According to Cole Galloway, a physical therapy professor, this mobility is important to a child’s development because “as soon as you’re reaching, as soon as you’re walking, your cognition explodes.” This suggests that many disabled children may be missing out developmentally because they often are not given a power-chair or other powered mobility option until the age of 3 or later.

Speaking from experience, Ruth Everard of Cambridge, England expressed her support of the Delaware researchers. Ruth has type 2 spinal muscular atrophy (SMA) and was less than 2 years old when her father designed a power chair for her that lead to the creation of Dragonmobility Ltd, which now produces multiple kinds of power chairs for individuals of differing ages and abilities. Ruth hopes that the work in Delaware will add to the “existing body of knowledge about mobility and the developmental needs of children.” She said, “I find it tiring that I’m still being told it’s cutting edge, and I’m 28.”

To read the full article, click here.

Technorati Tags: Dragonmobility Ltd, power chair, Ruth Everard, sma, SMA Type II, spinal muscular atrophy, University of DelewareDragonmobility Ltd, power chair, Ruth Everard, sma, SMA Type II, spinal muscular atrophy, University of Deleware

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The Washington Times recently ran a lovely piece about the Lee Family of Ellicott City, Maryland. Emily Hope Lee, the third daughter of Nathan and Diana Lee, has spinal muscular atrophy (SMA). The article describes some of the struggles that the Lee family has faced in their battle with SMA and provides a little insight into how their faith has impacted their fight.

Here is an excerpt from the article, “Hope is her middle name” by Julia Duin:

Emily Lee, with her large brown eyes, pale ivory skin and two small jet-black pigtails, has clung to life for 2 years and 5 months.

She cannot crawl, sit up, move her head or even swallow because of spinal muscular atrophy (SMA). The genetic disease that prevents the production of muscle protein kills half of the affected children by the age of 2. The rest die by their teens.

Her family is just grateful that Emily has lived to see her second Christmas. The child lives between life and death, enjoying “Veggie Tales” and “Dora the Explorer,” baths and van rides to her church, Columbia Presbyterian, where her parents sit in the back, ready to dash out the door if Emily’s health were to fail.

To read the full article and to see a slideshow of pictures, click here. To keep up with the Lee Family, visit their website www.hopeforemily.com.

Technorati Tags: faith, families, Maryland, sma, spinal muscular atrophyfaith, families, Maryland, sma, spinal muscular atrophy

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