theGSF and FightSMA Award $100,000 Spinal Muscular Atrophy Research Grant

December 16, 2011 | December 15, 2011

The Gwendolyn Strong Foundation (theGSF) and FightSMA are excited to announce a $100,000 award to Dr. Monique A. Lorson and University of Missouri in support of Dr. Lorson’s research focused on developing a large animal model of Spinal Muscular Atrophy (SMA).

Currently, no large animal model of SMA exists and the goal of Dr. Lorson’s research is to develop the first ever pig based model of SMA to be used by the broad, global SMA research community and other research groups to allow them to more efficiently and effectively move promising research from the bench to bedside. In short, this is a very exciting program that has the potential to have a material, positive impact on the future of SMA research in almost every category (e.g. gene therapy, compounds, antisense oligonucleotides).

Click HERE or on the image below to read more…


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.

Click HERE or on the image below to read more…

The Nerdy Bird is the word

January 11, 2011

The Nerdy Bird is the word

Newsarama | January 11, 2011 | By Jill Pantozzi

Hey everyone! I’m Jill Pantozzi, otherwise known as The Nerdy Bird. If you’re a loyal Newsarama reader (and I know that you are) you’re probably already familiar with me. I contribute my op/ed column Hey, That’s My Cape! to the site weekly as well as a bunch of interviews and features along the way. But I’ve been told by some people it’s impossible to get enough of me so here I am making my first official appearance on Blog@.

This is my opportunity to introduce myself and the chance for you to get to know me a little better. Pretend this is our first date.

Why yes that is a DC superhero dress I’m wearing! I bought it on Etsy and it’s the best. Thanks for asking!

So what is there to know about Jill Pantozzi? Well for one, I run my own blog called “Has Boobs, Reads Comics” where I talk about all things nerdy including, but not limited to, comics, video games, movies and pop-culture. I started my blog in 2008 to get back into the swing of writing after working as a radio DJ for a few years.

From there I started writing for the Girls Entertainment Network and Comic Book Resources and eventually birthed Hey, That’s My Cape! at the now defunct Heartless Doll. I still contribute to their sister site, Topless Robot and am also a writer for MTV Splash Page and Publishers Weekly’s Comics Week. (You can find links to my work at those sites on my blog.)

Like I mentioned, along with other items here at Newsarama, I write HTMC! weekly and have recently joined the crew for Newsarama Radio and our video show, Need To Know. With all of that, I am certainly a happy nester, er, camper.

You can’t tell by looking at me but I’m affected by a form of Muscular Dystrophy called Spinal Muscular Atrophy. I can still walk but use a motorized scooter to get around most places. It was something I was born with that will be with me for the rest of my life unless a cure is found, which is something I’m constantly striving toward. I’m a Goodwill Ambassador for the Muscular Dystrophy Association and attend and speak at various fundraising events around my home state of New Jersey. In fact, if you’d like to help out there’s one coming up March 24 called Muscle Walk. You can help my team, The Nerdy Birds, reach their goal.

Click HERE or on the image below to read more…

Santa Makes Terminally ill Child’s Wishes Come True with an iPad

December 27, 2010

Santa Makes Terminally ill Child’s Wishes Come True with an iPad

Chip Chick | December 27, 2010 | By Ali Heriyanto

The iPad has been used in so many different ways in its relatively short time on the market. It’s not only enhanced our portable entertainment experience but also aided us in ways when it comes to work or just socially. But probably the most touching use of the iPad that we’ve seen yet, is with Nora. Nora is only 2 years old and unfortunately suffers from SMA (Spinal Muscular Atrophy). She received an iPad from a generous person who donated it to her this Christmas. This iPad has unsurprisingly helped make Nora’s 2nd Christmas even more special. Every day is precious to Nora and her parents, so every little bit of pleasure this child experiences only helps her remaining days on earth, no matter how few they may be. The interesting thing to observe is that even though Nora is seriously disabled, she still lights up at the sight of the iPad and figures out how to use it within minutes… just the simplest programs have engaged her.

Click HERE or on the image below to read more…

Dr. Kaspar In The Lab

November 23, 2010

Dr. Kaspar In The Lab

FightSMA Blog | November 22, 2010

It’s not often that we get to see SMA researchers in their labs.  That’s why the picture to the left is such a treat.  It shows Dr. Brian Kaspar and one of his colleagues hard at work on gene therapy research that could some day yield a treatment or cure for spinal muscular atrophy.  To get a better look, click on the image for a larger version.

Click HERE or on the image below to read more…