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This is the third in a series of Fighting Back Podcast episodes featuring audio from the Fighter Mom Friday event, held on May 9, 2008 in New York City.  The workshop was designed to educate, inform, and inspire attendees fighting against diseases or conditions affecting their children. The day-long event featured a number of speakers, and several of them have agreed to allow us to present in podcast form the information they offered during the event.

Episode 16 of Fighting Back features Dr. Alex MacKenzie, Director of the Children’s Hospital of Eastern Ontario Research Institute.  The audio for the episode was recorded during Dr. MacKenzie’s seminar.  He discusses the relationship between families and researchers, and how they can help each other.

More information on Fighter Mom Friday can be found on the Fighter Mom website.  More audio from the event is available on the Fighter Mom Multimedia page, or by subscribing to this podcast.

To listen to this episode, you can use the Flash mp3 player above, load the Fighting Back Podcast Feed into your favorite feed reader, subscribe via iTunes or other podcast directories, or simply use the download link above to load the file onto your computer.

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.

FightSMA’s science director, Dr. Chris Lorson, is profiled in the Winter 2008 issue of the University of Missouri’s newsletter For All We Call Mizzou.

From the article, “Leading the fight against a killer of infants”:

Although many people have never heard of it, spinal muscular atrophy (SMA) is the leading genetic cause of death among infants. The neurodegenerative disease does not discriminate; it affects all ethnic groups and occurs in approximately one in 6,000 live births.

“It’s a remarkably common ‘rare’ disease,” says Chris Lorson, associate professor of veterinary pathobiology. “Most kids who develop the disease live two to five years. Treatments have been developed to extend that lifespan, but there is still no cure.”

Lorson, PhD ’97, a researcher in the Christopher S. Bond Life Sciences Center, is leading the national effort to change that. With joint appointments in the College of Veterinary Medicine and the School of Medicine, Lorson has been collaborating with researchers on campus and across the country to learn more about what causes the disease and what can be done to stop it.

“The genetics are very clear,” Lorson says. “A single gene is responsible for all clinical forms of the disease, and about 1 in 35 people carries the gene.”

When it functions normally, this particular gene, known as survival motor neuron 1 (SMN1) creates a protein necessary for motor neuron activity. Children born with a defective SMN1 gene suffer from neurodegeneration, which leads to severe muscle weakness and difficulty crawling, walking, controlling their head and neck, swallowing and even breathing.

Lorson, who is also scientific director for the nonprofit organization Fight SMA, says his team is working on a multifaceted approach that includes drug development, supportive care and a gene therapy program to replace the defective gene. Their work could offer insights into treating other diseases such as Parkinson’s, Alzheimer’s and muscular dystrophy.

“SMA represents an outstanding platform for modeling neurodegenerative disorders,” Lorson says. “It is truly an exciting time to be working in this area. Obtaining funding, however, has become a full-time job.”

To read the original article, click here.

A new article from researchers at Peninsula Medical School in Exeter, UK charts out ongoing studies at the school that they hope will lead to a treatment for some victims of spinal muscular atrophy (SMA).

Researchers […] have carried out studies into one of the two survival motor neuron (SMN) genes that set suffers from SMA apart from the rest of the population. In 98% of SMA sufferers, the SMN protein is only produced from one of these genes. The resulting fall in SMN protein levels is what causes SMA to develop.

The remaining two per cent of SMA sufferers produce normal levels of SMN protein, but the protein is altered so that it is no longer capable of performing its normal functions within the body. One of the main reasons for this is that these disease-causing alterations in the SMN protein prevent it from localising to the correct places in the body¡¯s cells. By looking at why mutations occur and what they do to divert protein away from the cellular areas where it is required, the Peninsula Medical School team may be able to identify compounds that alter the protein so that it is directed correctly ¨C effectively producing a treatment for the disease.

The research could also have potential bearings on other treatments, such as gene therapy.

The paper highlighting this research is the first to be published by this particular research team, and it has made the front cover of Human Molecular Genetics, a remarkable achievement for a first time publication.

Read the entire article on EurekaAltert. 

A reminder that a satellite symposium on SMA entitled “NMJ in spinal muscular atrophy - the chicken or the egg?” is being sponsored by Families of SMA, FightSMA, MDA, and SMA Foundation. The event, to be held Monday, November 5, 2007 at 6:30pm in the Annie Room of the Manchester Grand Hyatt San Diego, will be moderated by Dr. Michael Sendtner of the Universität Würzburg Institut für Klinische Neurobiologie in Germany. After refreshments from 6:30-7:10 PM, the meeting agenda is as follows:

For more information, meeting attendees can stop by the SMA organizations’ booth, #4301.

A list of more upcoming professional meetings can be found at the FightSMA website.

FightSMA will be hosting booth #37 at the 36th Annual Child Neurology Society Meeting being held this week in Quebec City, Quebec. Doctors and researchers will receive general information about Spinal Muscular Atrophy, current and future clinical trials, and the SMA Treatment Acceleration Act. Also, visitors to the booth will have opportunities to discuss with FightSMA Scientific Advisor Dr. Alex MacKenzie.

During the Society for Neuroscience’s 37th Annual Meeting in November, a satellite symposium on SMA entitled “NMJ in spinal muscular atrophy - the chicken or the egg?” will be held Monday, November 5, 2007 at 6:30pm in the Annie Room of the Manchester Grand Hyatt San Diego. This event is being sponsored by Families of SMA, FightSMA, MDA, and SMA Foundation. For more information, meeting attendees can stop by the SMA organizations’ booth, #4301.

A list of more upcoming professional meetings can be found at the FightSMA website.

We’re very excited to announce that the Consensus Statement for Standard of Care in Spinal Muscular Atrophy has been published in the August 2007 supplement of the Journal of Child Neurology. The recommendations in the document were prepared by an an international body of clinical experts. The panel worked with more than 60 spinal muscular atrophy experts in the field to achieve consensus on 5 care areas: diagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care.

To read the document, download it here in PDF form.

On May 18, 2007, a letter signed by clinicians and investigators from the medical and scientific community was presented to the U.S. Department of Health and Human Services (HRSA) Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) restating the case for spinal muscular atrophy to be included in the newborn screening efforts. Additional signatories are still being recruited and we welcome any scientists who would like to add his or her name to contact Laura Breiteneicher.

You can read a copy of the letter in PDF format on the Fight SMA website.

Spinal muscular atrophy (SMA) researchers Tristan Coady and Travis Baughan, from FightSMA Science Director Dr. Chris Lorson’s laboratory at the University of Missouri, will attend and present their studies at the American Society of Gene Therapy (ASGT) Meeting in Seattle, May 30th – June 3rd.

At this year’s ASGT meeting Travis will present, “Modulating SMN2 pre-mRNA splicing: Identification of optimal targets for bi-functional RNAs.” Travis has developed second generation bi-functional RNAs that target repressor elements within SMN2 while recruiting positive factors to facilitate exon7 inclusion. Bi-functional RNAs have two functional domains, one that is a RNA sequence complimentary to the target RNA (in this case SMN2) and another that serves as a binding substrate for splicing factors which in turn promote full-length SMN expression. The original observations concerning the successful application of first generation bi-functional RNAs to alter SMN2 splicing and promote increased inclusion of exon7 were reported in the journal Molecular Therapy, 2006. The current goal of these studies is to validate the effectiveness of bi-functional RNAs in mouse models of SMA. The successful application of this technology in SMA to promote inclusion of SMN2 exon7 can be easily adapted to other diseases that are a result of aberrant pre-mRNA splicing.

Another therapeutic approach being investigated by Tristan Coady is the application of trans-splicing. Trans-splicing relies upon pre-mRNA splicing occurring between two different molecules; the endogenous RNA (for example SMN2) and the therapeutic RNA. The therapeutic RNA used in these studies contains SMN1 exon7 which when trans-spliced will form an mRNA with exons1-6 of SMN2 and exon7 of SMN1. Tristan’s studies have successfully identified trans-splicing RNAs that increase expression of full-length SMN and produce elevated levels of SMN in SMA patient fibroblasts. These studies are currently in press in the journal Molecular Therapy. The functionality of these trans-spliced RNAs is currently being tested in both tissue culture and mouse models. Tristan will present a podium presentation at the ASGT meeting entitled, “SMA Based Therapeutic Trans-Splicing RNAs Repair SMN1 Deficiency.”

FightSMA is a proud sponsor of the 10th Annual ASGT Meeting and will also be present in the Exhibit Hall at booth 324. Visitors to the booth can receive information about FightSMA research funding opportunities and can meet FightSMA scientific representatives Dr. Chris Lorson and Dr. Monique Lorson, both of the University of Missouri.

Recently, Fight SMA and the biopharmaceutical firm PTC Therapeutics announced they’re collaborating in the effort to discover new treatments for spinal muscular atrophy (SMA).  PTC issued a progress update on that work today.

Read PTC’s progress update in PDF format here.

Families from all over the nation are traveling to the nation’s capital with a goal of advancing the fight against the deadly disease spinal muscular atrophy (SMA). The families will be in Washington D.C. from April 22-27 to attend the twelfth Fight SMA Annual Spinal Muscular Atrophy Conference, The Good Fight, where they will learn about the disease, network with researchers and other SMA families, and work toward legislation to assist in finding a cure for spinal muscular atrophy.

Spinal muscular atrophy is an incurable neuromuscular disorder that kills more infants than any other genetic disease. SMA affects the motor neurons of the spinal cord and brain stem, rendering them unable to communicate with muscle cells properly. The National Institute of Neurological Disease and Stroke (NINDS) of The National Institutes of Health (NIH) says, however, that out of the 600 disorders it tracks, SMA is one of the closest to being cured. Fight SMA is an international nonprofit organization dedicated to accelerating that cure.

Many of the families in attendance will meet with their Senators and Representatives to urge them to support the creation of the first spinal muscular atrophy legislation in our country’s history. The proposed SMA Treatment Acceleration Act, developed through a collaborative effort between Fight SMA, the SMA Foundation, and Families of SMA, would establish a national clinical trials network to develop treatments that are safe and effective for SMA patients
“The conference attendees are able to explain better than anyone why the fight against spinal muscular atrophy is so critical,” said Fight SMA President Martha Slay. “We know these meetings with members of Congress will put a face on this horrible disease.“

Attendees will also have the opportunity to receive updates on research into the disease from scientists from all over the world, gain valuable and practical advice from clinicians for coping with a childhood disease on a daily basis.

For more information on the conference, please visit the Fight SMA 2007 Annual Conference web page.