A team led by University of Wisconsin-Madison researcher and 2006 FightSMA Annual Conference presenter Dr. Clive Svendsen has shown that they can create a model of spinal muscular atrophy (SMA) in a petri dish.

Building on research previously reported which allows scientists to force skin cells to act like embryonic stem cells, the team used skin cells from a boy with SMA to create SMA affected motor neurons in the laboratory. Because these motor neurons are outside of a patient, researchers expect to be able to observe the rate of motor neuron death and test interventions much easier and safer.

The team’s findings have been published by the journal Nature. The article is “Induced pluripotent stem cells from a spinal muscular atrophy patient” by Allison D. Ebert, Junying Yu, Ferrill F. Rose, Jr., Virginia B. Mattis, Christian L. Lorson, James A. Thomson and Clive N. Svendsen.

For more information, click here to read one of the many news articles on this breakthrough.

From the University of Missouri News Bureau:

Molecular Therapy for Spinal Muscular Atrophy Closer to Clinical Use
MU researcher improves efficiency of trans-splicing therapy

Dec. 15, 2008
Story Contact: Kelsey Jackson, (573) 882-8353, JacksonKN@missouri.edu

COLUMBIA, Mo. - Spinal muscular atrophy, a neurodegenerative disorder that causes the weakening of muscles, is the leading cause of infant death and occurs in 1 in 6,000 live births. While trans-splicing (a form of molecular therapy) has had impressive results as a treatment for spinal muscular atrophy in cell-based models of disease, scientists have been unable to translate the therapy to the human body. A University of Missouri researcher has developed a strategy that will enhance trans-splicing activity and bring it closer to being used in the clinical setting.

Spinal muscular atrophy is caused by the loss of survival motor neuron-1(SMN1). In humans, a nearly identical copy gene is present called SMN2. Because of a single molecular difference, SMN2 alone cannot compensate for the loss of SMN1, but it can be used as a primary target for therapeutics, including trans-splicing. Trans-splicing therapy relies on splicing, or uniting, of mutant RNA and therapeutic RNA in order to correct RNA sequence.

To improve efficiency, the researchers developed a trans-splicing system that uses a strand of RNA that can bind to a gene and inactivate it. Turning the gene “off” reduces competition at splice sites and improves the likelihood of achieving the desired results.

“The key to introducing trans-splicing in clinical settings is developing efficient trans-splicing systems,” said Chris Lorson, investigator in the Christopher S. Bond Life Sciences Center; associate professor of veterinary pathobiology in the MU College Veterinary Medicine; and scientific director for Fight SMA, a private spinal muscular atrophy research foundation in Richmond, Va. “We have found that reducing the competition between the splice sites enhances the efficiency of trans-splicing. This strategy provides insight into the trans-splicing mechanism and significantly improves trans-splicing activity in a mouse model of spinal muscular atrophy.”

The study, “Development of a Single Vector System that Enchances Trans-splicing of SMN2 Transcripts,” was published in PLoS ONE and was co-authored by Lorson; MU researchers Tristan H. Coady, Travis D. Baughan and Monir Shababi; and Genzyme Corporation neuroscience researcher Marco A. Passini.

Click here for the original news release.

This work was funded by grants from the MDA, FightSMA, and the National Institutes of Health. To read the published article mentioned in the news release, click here.

Richmonders should pay a little closer attention than usual to commercial breaks on WWBT-TV (NBC 12) in the coming weeks.  That’s because Fight SMA will be featured in a 30-second spot on that station that will air throughout December.  The spot is part of a partnership between Mondial Assistance and WWBT.  The “World of Good” promotion honors people in the community who do a world of good for others.  Fight SMA President Martha Slay was chosen as one of these people. 

We’re very proud of this honor, and very grateful to Mondial Assistance and WWBT for giving us this opportunity to spread the word about Fight SMA!

You can watch the commercial below:

Here is a list of the air dates and times on WWBT-TV, NBC12:

12/13/08: 12 News on Saturday 9-10am (2x)
12/16/08: 12 News at Noon 12-12:30pm
12/16/08: News at 5:30pm
12/17/08: 12 News at Sunrise 5am-5:30am
12/17/08: 12 News at Noon 12-12:30pm
12/18/08: 12 News Today 6-7am
12/18/08: Dr. Phil 3-4pm
12/22/08: Dr. Phil 3-4pm
12/22/08: 12 News at 6pm-7pm
12/23/08: 12 News at 4pm-4:30pm
12/26/08: 12 News at 4pm-4:30pm

Doing some online shopping this holiday season? Give to the fight against Spinal Muscular Atrophy while you shop by using GoodShop, a new feature of Yahoo’s GoodSearch. Just select “Fight SMA - Andrew’s Buddies” as your charity and while you buy gifts for your family and friends, a percentage of your purchase will come back to Fight SMA.

The November 25, 2008 issue of the journal Neurology has two interesting pieces about the search for a treatment for spinal muscular atrophy (SMA): one is an article and the other is an editorial about the merits of the article’s subject.

In their editorial “Linking SMN to SMA: An assay for the rescuer,” Dr. Carsten Bonnemann and Dr. Richard Finkel give an overview of the current understanding of the genetic cause of SMA and how this is being applied to the search for therapies that lessen the severity of the disease. They then point out that there needs to be a reliable way to measure the results of these therapies to verify their effectiveness. The article entitled “A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy” introduces a new way to do just that. According to the editorial’s authors, while the two-site ELISA needs additional validation, it “advances the prospects of drug discovery efforts and clinical trials” and “holds promise of moving the field forward toward a therapy.”

FightSMA and Dr. Finkel have worked together in the past, when Dr. Finkel was a panelist for the “Thriving with SMA” panel at the 2007 FightSMA Annual Conference and when FightSMA assisted Dr. Finkel in distributing his 2006 survey of parents of SMA children. Two of the article’s authors, Dr. Alex MacKenzie and Dr. Glenn Morris, are also connected to FightSMA. Dr. MacKenzie is co-chair of FightSMA’s Scientific Advisory Committee and Dr. Morris has received funding from FightSMA for his research into an ELISA assay for SMN.

Many families battling spinal muscular atrophy (SMA) could write volumes full of stories about their difficulties with insurance companies and their selective coverage. Thanksgiving day, the Washington Post ran a piece about a northern Virginia family who has a story to add to that tome.

Columnist Joe Davidson introduced the Rogers family. Shelby Rogers is eleven years old and has type 2 SMA. Davidson describes some of the equipment around her bedroom used to help her breathe, cough, and move. Shelby’s father, John, works for the federal government and the family is covered by Aetna insurance through his employer. Next year, Aetna is dropping coverage for the private nursing assistance that the family relies on to care for Shelby. While Shelby has Medicaid, it does not provide enough to pay for the nurses who dress and bathe Shelby, turn her as she sleeps, and exercise her weakening muscles.

To read the full article, click here.