Celebrating Top Members-Project Vote-Getters: Spotlight on Spinal Muscular Atrophy
[I've written here about six projects proposed for the American Express Members Project that were in the top 25 by number of votes, but were not selected by the advisory board. To celebrate the efforts of parents who got that vote out, and spotlight some worthwhile charities, I've been profiling these bypassed projects over the past week; today's is the last in the series, and you can find the others at the end of this post. Though they're no longer in the contest, I hope you'll consider voting with your pocketbook and making a donation.]
Project Name: CURE SMA
Popular Vote: The project was #25 in number of votes when the American Express Members Project Top 25 were chosen, with 2,072.
Disability Addressed: Spinal Muscular Atrophy. According to Anne Asher, About.com guide to Back & Neck Pain, "Spinal muscular atrophy (SMA) is a rare genetic disease affecting the control nerves branching from the spinal cord have over voluntary muscles. SMA mainly afflicts children. The child with SMA will experience impairment of crucial functions such as breathing, sucking and swallowing." To hear about SMA from a family dealing with it and experts researching it, view the video "Fight SMA."
Achievable Goals: One of the organizations working to fund research on SMA is Families of Spinal Muscular Atrophy, which "has established and has solely funded Project Cure SMA, a clinical trials network. The network has focused first on developing the necessary clinical infrastructure and drug testing protocols needed to assess candidate drugs for SMA and later to actually conduct clinical trials." According to the Clinical Trials page of the Families of SMA site, "Families of SMA believes that it is critical to invest in clinical trial infrastructure. This allows us to accomplish several goals. The first is to prepare for the future by developing useful drug-testing protocols for each SMA type. Clinical trial protocols need to be tailored to SMA type since functional abilities differ. Having established protocols will allow novel drug candidates for SMA to be clinically assessed in all SMA patients as rapidly as possible after identification."
On that goal, the organization's page on Drug Discovery adds: "The ultimate goal at FSMA is to find an effective treatment and cure for SMA. In order to achieve this FSMA has invested substantial funds in pre-clinical SMA drug development since 2000. Traditionally it has been difficult to attract major pharmaceutical companies to conduct research for orphan diseases like SMA, which have small patient populations with small potential for profit. Therefore FSMA has taken the strategy of providing seed funding to encourage biotech and pharmaceutical partners to engage in SMA drug research. Our objective is to reduce the risk for industrial partners by simultaneously providing funding, research tools, scientific expertise, and established clinical networks. This strategy effectively lowers the barriers for embarking in SMA drug discovery."
Current Research: Another organization involved in SMA research is FightSMA, which shares its research strategy on its site: "The FightSMA research strategy takes advantage of the remarkable science revelations that the SMA research community has seen, since the 1995 discovery of the gene that is responsible for SMA. In SMA, a vital gene (called the 'survivor motor neuron,' 'SMN,' gene located on Chromosome No. 5) is missing. In the absence of that gene, the vital SMN protein which is necessary for muscle strength is in insufficient supply. Without that protein, the motor neurons die off and muscles that depend on the motor neurons atrophy and waste away. In the most severe cases of SMA, infants generally die by their second birthday. In other less severe cases, the disease is crippling and frequently life-threatening.
"The tremendous potential for treatment lies in the unusual nature of the SMN gene. Even though the key SMN1 gene is deleted, there is a second 'copy' gene (the SMN2 gene) that continues to produce limited quantities of the SMN protein. The FightSMA strategy attacks SMA on six tracks: 1. Trick the remaining SMN2 gene into producing more protein; 2. Replace the missing gene; 3. Replace the protein; 4. Find a small molecule substitute; 5. Administer protective or growth-enhancing agents; 6. Grow new motor neurons from stem cells."
Potential Impact: According to the Members Project page for CURE SMA: "A cure for SMA would have a substantial impact worldwide. One in 40 people carry the genetic cause of SMA, however many people have never even heard of the disease. More than 7 million Americans are carriers of SMA, and many millions more worldwide. SMA crosses all racial, ethnic and gender boundaries." There may be implications beyond those millions. As Dr. Kathy Swoboda, a pediatric neurologist, says in the Fight Spinal Muscular Atrophy video, "Work on SMA will benefit other neurodegenerative diseases. This is the way of the future. We're going to be able to do sophisticated genetic tests, we're going to be able to identify in the future who's going to be at risk for Parkinson's disease, who's going to be at risk for Alzheimer's disease."
Personal Appeal: On that American Express Members Project page, the member submitting the project wrote, "I was inspired by my son Dylan who has SMA, his friend Kiley who also has SMA, and by Michele, an SMA mom who also has a 19 month old son, Greyson, who also has SMA. I am also inspired by the fact that SMA kids and SMA adults have taught me that sometimes inner strength is more important than physical strength."
How to Help: You can contribute directly to Families of SMA by donating online, shopping for FSMA merchandise, or contributing your time and talent to fundraisers. FightSMA also has online donations, an online store, as well as opportunities to get involved by promoting legislation and using online services.
Previous spotlights:
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