Families of Spinal Muscular Atrophy: An Organization Devoted to Finding a Cure and Helping Families through Information, Support, and Equipment Lending. (Organizational Spotlight)

The Exceptional Parent, April 2001 | Go to article overview

Families of Spinal Muscular Atrophy: An Organization Devoted to Finding a Cure and Helping Families through Information, Support, and Equipment Lending. (Organizational Spotlight)


Families of SMA was founded in 1984 by a group of concerned parents. It is an international, entirely volunteer-driven organization whose sole purpose is eradicating SMA by promoting and supporting research, helping families cope with SMA, and educating the public and professional communities about SMA. Since their founding, Families of SMA have funded over $4 million in research to find a cure for SMA. They have also committed to fund an additional $4 million in SMA research through 2001.

Important breakthroughs from research

In January 2000, Families of SMA-funded researchers replicated the disease in mice and demonstrated that SMA could be corrected by large amounts of the SMN2 protein. The SMN1 (survival motor neuron 1) gene produces a protein essential to the function of motor neurons. The SMN2 gene is nearly identical to SMN1 except that it does not produce the critical protein, resulting in degenerative changes to motor neurons in the spinal cord. If the SMN2 gene could be changed so that it produced the protein, it could lead to a treatment for SMA. Based on these findings, Families of SMA has taken the next step to identify a potential treatment and will fund a $2.6 million project to screen hundreds of thousands of potential compounds for their ability to activate production of SMN2.

According to Arthur H.M. Burghes, PhD, associate professor of neurology and director of the neurogenetics laboratory at Ohio State University, and chair of the North American Spinal Muscular Atrophy Research Group (NASMARG), for every dollar raised by Families of SMA, 80 cents goes to research.

"This funding has led to some remarkable breakthroughs in SMA research," writes Dr. Burghes. "The gene has been mapped, cloned, and the defective protein identified. These research efforts have been funded by certain key charities, most notably Families of SMA, AFM (Association Francaise Contre Les Myopathies), and MDA (The Muscular Dystrophy Association)."

Dr. Burghes emphasizes the importance of contributions from organizations. "In my laboratory we would not have been able to perform our research in SMA without the funding provided by [these groups]."

Families of SMA is currently funding other projects in a number of laboratories and has started to support research fellows in laboratories that perform critical experiments in SMA research.

Families of SMA services

The organization provides disease-specific information for families, healthcare professionals, and educators, and also refers families to appropriate resources for assistance and support. The group's annual conferences provide families with an opportunity to learn about the latest discoveries and interact with scientists, clinicians, and other families coping with SMA. Information on clinical trials and referrals to genetic investigators are also available through the organization.

The organization also sponsors the International Spinal Muscular Atrophy Research Group Meeting, which invites scientists and clinicians to gather and exchange research findings and ideas.

In addition to their research-based activities, Families of SMA provides equipment loans, offers educational, emotional, and research support, and sponsors an annual informational conference to help families affected by SMA. …

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