The following are three National Institutes of Health (NIH) funding opportunities that may be of interest to researchers working toward a treatment and cure for spinal muscular atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death.

Exceptional, Unconventional Research Enabling Knowledge Acceleration (EUREKA) (R01)
Application Due Date: October 21, 2010
Solicits proposals for exceptionally innovative research on novel hypotheses or difficult problems, solutions to which would have an extremely high impact on biomedical or biobehavioral research. Support may be requested for up to $800,000 in direct costs (excluding consortium F&A) over a four-year period, not exceeding $250,000 (direct costs, excluding consortium F&A) in any one year. (Note, that over the last three years the EUREKA mechanism has had a success rate much more in line with standard R01 applications. Each of these offers an opportunity not as easily addressed in regular NIH funding mechanisms.)

NIH Common Fund Transformative Research Projects Program (R01)
Application Due Date(s): October 27, 2010
Solicits applications proposing groundbreaking, exceptionally innovative, high risk, original and/or unconventional research with the potential to create new scientific paradigms or challenge existing ones. Budget requests should be commensurate with project needs for up to a five-year project period. Up to one third of the budget for this FOA will be reserved projects exceeding $1 million dollars in direct costs.

Scalable Assays for Unbiased Analysis of Neurobiological Function (R01)
Application Due Date: November 17, 2010
Solicits applications to develop novel, robust analytical platforms using in vitro assays to reveal changes in neuronal and/or glial function. The goal is to adapt state-of-the-art measures of basic cellular processes or molecular events that are key mediators of brain function with the intent to probe mechanisms and/or perturbations in an unbiased and efficient manner. The novel assay platforms would provide opportunities to measure neurobiological endpoints and build a pipeline to be used in the context of target identification and drug discovery.

The Society for Neuroscience (SfN) is the world’s largest organization of scientists and physicians devoted to advancing understanding of the brain and nervous system. SfN’s 40th annual meeting, Neuroscience 2010, will be held November 13-17 in San Diego, California. As in past years, the exhibit hall will have an “SMA Organizations” booth devoted to raising awareness of spinal muscular atrophy (SMA) among the researchers and scientists attending the meeting.

In addition, Families of SMA, FightSMA, MDA, and SMA Foundation will be sponsoring a satellite event. Entitled “Nucleic Acids to the Rescue: Gene and Antisense Oligonucleotide Therapies for SMA,” the symposia meeting will be held Monday, November 15th at the Manchester Grand Hyatt, just a block from the SfN meeting site. (This event is not sponsored by the Society for Neuroscience.)

Click on the image below to view the save the date.

In October, a workshop and a course will be held that may be of interest to researchers and medical professionals involved with spinal muscular atrophy (SMA).

At the beginning of October, the Center for Continuing Medical Education at Columbia University in New York will hold a course to update clinicians and caregivers about therapies in development, the new consensus on patient management, and ways to participate in upcoming clinical trials. Supported by a grant from the New York-based SMA Foundation, “Recent Advances in SMA and Other Pediatric Neuromuscular Diseases” will be held October 2nd and is “an intensive one-day course designed for medical professionals, including physicians, nurses, genetic counselors, physical, occupational, and respiratory therapists, with an interest in pediatric neuromuscular diseases.” For more information about the course, click here.

Later in the month, a three-day workshop (October 18-20) about conducting research on rare diseases and orphan products will be held in Rockville, Maryland. Sponsored by the Food and Drug Administration (FDA), agencies of National Institutes of Health (NIH), the National Organization for Rare Disorders (NORD), and Duke University Medical Center, the “Accelerating Therapies for Rare Diseases” workshop “focuses on FDAs regulatory requirements and the clinical trial issues that are especially relevant to rare disease research.” Speakers will include members of academia, government agencies, and the private sector. For more information about the workshop, click here.

The 2010 FightSMA Annual Conference, entitled “The Good Fight,” opened in yesterday, April 25th, at the L’Enfant Plaza Hotel in Washington, D.C with an international collection of researchers gathering to discuss spinal muscular atrophy (SMA) and related sciences. FightSMA’s Science Director, Dr. Chris Lorson, started off the meeting with a brief introduction before attendees heard from Dr. Kathy Swoboda from the University of Utah, Dr. Rashmi Kothary from Ottawa Health Research Institute, Dr. Livio Pellizzoni from the Columbia University Center for Motor Neuron Biology and Disease, and Dr. Allison Ebert University of Wisconsin-Madison. After dinner, Dr. Charlotte Sumner of the Johns Hopkins University School of Medicine, Dr. Barrington Burnett of National Institute of Neurological Disorders and Stroke, and Dr. Michael Sendtner from the University of Wurzburg (Germany). Topics of the evening included SMA clinical trials, mouse models, and iPS cells.

The researchers’ portion of the conference resumes today with additional presentations and discussions wrapping up shortly before the families and friends portion opens at 5:00PM with an introduction by FightSMA’s president, Martha Slay, and a Science Update by Dr. Lorson. This and the “Thriving with SMA” panel will be available by webcast, free of charge, for families and caregivers unable to attend the conference in person.

By Dr. Alex MacKenzie, Co-Chair of FightSMA’s Scientific Advisory Committee

It is with sadness we note the passing of Dr. Hung Li earlier this year. Dr. Li’s laboratory at Academia Sinica in Taiwan made a number of important and novel observations in the study of spinal muscular atrophy, all the more impressive given his was at a center with no prior record in SMA research. Dr. Li reported the first genetically and pathologically faithful murine model of severe SMA as well as the first report of treatment of these mice with an SMN2 inducing agent, butyrate. Latterly, he made the novel observation of a role for STAT5 kinase activation in the induction of SMN2, one of the first delineations of a mechanism of induction for this locus. As well he explored the role of apoptosis in SMA and reported on Valproate therapy in a small patient cohort.

In addition to his important SMA legacy, Dr. Li published widely on other issues including renal disease and novel therapies for stroke; clearly his was fertile and creative scientific mind. He was a quiet, kindly individual who reached out to a number of us with an invitation to Taiwan to visit his laboratory a number of years ago. A true pioneer in SMA research, he will be missed.

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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.