From the press release by Cold Spring Harbor Laboratory:

November 4, 2009

Researchers identify drug candidate for treating spinal muscular atrophy

Cold Spring Harbor, N.Y. – A chemical cousin of the common antibiotic tetracycline might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants. This is the finding of a research collaboration involving Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory (CSHL) and scientists from Paratek Pharmaceuticals and Rosalind Franklin University of Medicine and Science.

SMA is caused by mutations in a gene called Survival of Motor Neuron 1 (SMN1), resulting in a decrease in the levels of SMN protein in the motor neurons of the spinal cord – the cells that control muscle activity. Without the protein, these neurons degenerate, and infants born with the mutations progressively lose the ability to move, swallow, and breathe. There are no approved therapies for the treatment of SMA, which affects approximately 1 in 6,000 babies born in the United States.

The new molecule boosts the levels of SMN protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing. In a study that will appear in the journal Science Translational Medicine on November 4th, the scientists report this fix in both mouse models of SMA, as well as in cells isolated from SMA patients.

Unlike previously identified molecules that stimulate SMN production, the tetracycline-like compound is a unique therapeutic candidate in that it is a small molecule that specifically alters RNA splicing by directly targeting the splicing reaction.

To read the full press release, click here.

To read the abstract of the study, click here.

Dr. Adrian Krainer is a friend of FightSMA and a regular speaker at FightSMA’s Annual Conference. At the 2009 FightSMA Annual Conference, he spoke on subject of splicing and SMA.

Tags: Adrian Krainer, Cold Spring Harbor Laboratory, conference 2009, research, spinal muscular atrophy, splicing

Exceptional Parent Magazine, a publication for families and professionals in the special needs community, recently posted on their website a piece about the 2009 FightSMA Annual Conference that was held in April this year.

The 2009 FightSMA Annual Conference in Review
Sep 24, 2009

During the 2009 FightSMA Annual Conference the energy was actually palpable! Excitement, camaraderie and a renewed sense of determination pulsed through each of us. The large conference room at the L’Enfant Plaza Hotel in Washington, DC hosted a collection of amazingly dedicated people, sharing the same goal and focus: eradicating Spinal Muscular Atrophy (SMA), the number-one genetic killer of children under the age of two.

Advocates from Utah to New Jersey, from Georgia to New Mexico, gather together each year to join forces, share information, and celebrate their important mission. Researchers from across the country and often the world come together year after year to share new discoveries and developments, some even unpublished, with these eager families and friends whose lives have been affected by Spinal Muscular Atrophy. And, every year we march as one to Capitol Hill, sharing with our nation’s leaders the importance of this little-known, but wicked disease.

The 2009 FightSMA Conference was monumental: the SMA community had a bill in Congress for the first time in history, and they had a specific request for each Senator and Congressman, which was to cosponsor this legislation. The bill, the SMA Treatment Acceleration Act (HR 2149, S 1158), is currently in its second Congress and all of our community has been working tirelessly on a grassroots level to get this legislation passed.

To read the full article, click here. Registration required.

Tags: conference 2009, Exceptional Parent, FightSMA Annual Conference, SMA treatment acceleration act, spinal muscular atrophy

Over the weekend, the Rankin Ledger ran an article about the Horton Family of Flowood, Mississippi. Jeff and Dee Horton took up the fight against Spinal Muscular Atrophy after their daughter Evie was diagnosed with the disease and as you may know from previous blog posts, they have been leading efforts to gain support from Mississippi’s Senators and Representatives for the SMA Treatment Acceleration Act, visiting Capitol Hill during the 2009 FightSMA Annual Conference in Washington, DC.

In the article, Jeff describes what lead them to become concerned. He said, “At one year, Evie was able to stand, cruise furniture and grab onto fingers of adults….We just weren’t seeing progress in Evie six months later. She wasn’t walking without assistance and seemed scared to walk on her own. The real alarm was when we saw her on the floor, lifting her legs with her hands to move them.” Despite her struggles, Evie is a beautiful, happy little girl who “talks up a storm and loves to sing.”

Click here to read the full article.

Tags: conference 2009, Mississippi, sma, SMA treatment acceleration act, spinal muscular atrophy

The 2009 Fight SMA Annual Conference featured a number of firsts, including the first-ever webcast of the event.  Now, the video from that webcast is available for online viewing and download!  You can watch it on the Conference 2009 page here at Fight SMA.  Just follow this link:

Fight SMA Annual Conference 2009

Tags: conference 2009, sma, spinal muscular atrophy

The Virginian-Pilot newspaper printed a story Sunday about the family leading FightSMA’s chapter in Virginia Beach, Virginia. The article touched on aspects that many families affected by spinal muscular atrophy (SMA) face: the shock of the diagnosis, the struggle to fight the disease, and the loss of a child. But, the article also recognized the promise and hope brought about by research being done around the country and the need for the fight to continue.

The Saville Family openly speaks about their experience of learning their daughter Morgan had SMA, of raising awareness and funding, of seeking treatment, and of her death in 2005. They also discuss how their efforts to defeat SMA have been renewed following their new baby’s birth, diagnosis, and enrollment in Dr. Kathy Swoboda’s pre-symptomatic study, funded in part by FightSMA. Stacy Saville and her son, accompanied by Virginian-Pilot photographer Genevieve Ross, attended the FightSMA Annual Conference in April and traveled to Capitol Hill to advocate for the SMA Treatment Acceleration Act.

To read the full article, click here. Below is a lovely slide show that the paper also put together.

Tags: conference 2009, fight sma, fightsma, Kathy Swoboda, presymptomatic, sma, SMA treatment acceleration act, spinal muscular atrophy, Virginia

FightSMA has produced a slideshow of photos from the 2009 FightSMA Annual Families and Friends Conference: The Good Fight held April 27-28 in Washington, D.C.  Please check out the images below.  To read more about the event, please visit the 2009 Annual Conference page!

Thank you to our attendees, corporate sponsors, Thriving with SMA panelists, and photographer Ralph Alswang.

Tags: conference 2009, fight sma, fightsma, spinal muscular atrophy, The Good Fight, Thriving with SMA

Congressman Eric Cantor (R-VA) meets Greg Tapley from Fight SMA’s Georgia chapter, following the recent Fight SMA Conference in Washington D.C.  Greg thanked Congressman Cantor for his sponsorship of the SMA Treatment Acceleration Act, which he and Congressman Patrick Kennedy (D-RI) re-introduced in the House of Representatives on April 28, 2009.

Tags: conference 2009, sma, spinal muscular atrophy

The 2009 version of “The Good Fight”, Fight SMA’s Annual Spinal Muscular Atrophy Conference, wrapped up on Tuesday, April 28 and it was another successful year!

Here are a few of the highlights:

• 20 researchers and two additional graduate students from the National Institute of Neurological Disorders and Stroke (NINDS) were in attendance.

• Three of the attending scientists joined five additional doctors and healthcare professionals in an educational panel for attendees of the “Families and Friends Conference.”  This year’s panelists were Thomas Crawford, M.D., Tina Duong, MPT, Craig P. Eberson, M.D., Sally Evans, M.D., Sarah Feasel, MEd, RD, LD, CNSC, Mary Schroth, M.D., Kathy Swoboda, M.D., and Alex MacKenzie, M.D., Ph.D.

• On April 28, many of the families, friends and researchers descended on Capitol Hill to advocate for Spinal Muscular Atrophy and the SMA Treatment Acceleration Act, visiting the offices of more than 65 Congressional Representatives.  After a productive day, the SMA community was thrilled to learn that HR 2149, the SMA Treatment Acceleration Act, had been re-introduced in the House of Representatives.  FightSMA thanks all of our families, friends and researchers for kicking off the 2009 advocacy efforts in a big way!

• For the first year, Fight SMA offered a webinar of the Families and Friends panels.  The webinar was a success, with 30 participants from 13 U.S. states and a total of four countries.  Those who utilized the webinar said the experience was great!

We’re thankful for the contributions of everyone who made this conference a success, and for our sponsors, who made it possible: PTC Therapeutics, Genzyme, Hill-Rom Company, ISIS Pharmaceuticals, Psychogenics, Permobil, The Medi-Kid Co., and Exceptional Parent Magazine.  A special “thank you” goes to Hill-Rom Company and Genzyme, which not only sponsored the event, but also sent representatives to attend the Families and Friends Conference!

Tags: conference 2009, spinal muscular atrophy

The FightSMA Annual Conference: The Good Fight is off to a great start. Opening last night, attendees heard from Dr. Arthur Burghes of Ohio State University, Dr. Livio Pellizzoni of the Columbia University Center for Motor Neuron Biology and Disease, and Dr. Rashmi Kothary of Ottawa Health Research Institute.

The last speaker of the night was Dr. Clive Svendsen. Dr. Svendsen, his team at the University of Wisconsin-Madison, and Fight SMA Science Director Dr. Chris Lorson drew attention last year when they published the journal article “Induced pluripotent stem cells from a spinal muscular atrophy patient.” Work with induced pluripotent stem cells (IPS cells) and the potential promise that they hold for numerous diseases was so striking that Science declared it the 2008 Breakthrough of the Year .

Tags: conference 2009, sma, spinal muscular atrophy

It’s just a couple of days until the deadline to sign up for the free webcast of this year’s Fight SMA Annual Conference.  Response has been great!  In fact, it’s been international!  Here’s a rundown of who will be viewing the first ever webcast of “The Good Fight”, Fight SMA’s 2009 Annual Conference:

• Thus far, 31 people/families have signed up.  This means we have NINE spots left.
• The families signed up thus far represent 14 states in the U.S.: California, Florida, Kentucky, Massachusetts, Michigan, Missouri, Nevada, New Jersey, New Mexico, North Carolina, Ohio, Rhode Island, Utah, and Virginia.
• The webcast will reach a total of four continents!  In addition to the webcast participants in the U.S., families in Australia, Canada, India, and Romania have signed up.
• The webcast participants include adults and children with SMA Type 1, SMA Type 2, and SMA Type 3.

This webcast is helping the annual conference become what we’ve always hoped it would be — an educational opportunity that is available to everyone.

As mentioned previously, there are only nine spots left!  To take advantage of this FREE webcast, please contact Heather Lennon at Fight SMA via email by April 23!

Tags: conference 2009, webcast