Basic research is the first step in developing a treatment and cure for SMA. Basic research projects investigate the biology and cause of SMA in order to identify the most effective strategies for drug discovery.
Our Basic Research Breakthroughs
Cure SMA has been investing in basic research for three decades. Since 2004 alone, we’ve awarded nearly 100 basic research grants for more than $11 million. Because of our investment and leadership:
- We helped map and clone the survival motor neuron gene 1 (SMN1). We now know that SMA is typically caused by a mutation in this gene.
- We helped identify the role of the survival motor neuron (SMN) protein. This allows us to better understand the function it performs in the nerve cells that control our muscles. We now know that, because of the mutation in the SMN1 gene, individuals with SMA don’t correctly produce this protein at high enough levels.
- We helped discover the SMN2 gene. We now know that this “back-up gene” can also perform the function of the SMN1 gene, meaning we have a target for drug therapies already in the body.
- We helped develop multiple animal models of the disease. These models represent the full sprecturm of disease severity. They allow us to better understand disease pathology and to test new drug candidates.
Our Basic Research Priorities
Current and future basic research projects will build on these discoveries. For example:
- We want to learn more about the SMN protein. We’re investigating what critical functions it performs, and where it is lacking in the body tissues of those with SMA.
- We’re investigating the practicalities of SMN-based therapies (also called "SMN-enhancing" therapies). We want to know how quickly SMN needs to be replaced in order to provide benefit for those with SMA. We want to know if we can increase muscle strength without improving motor neuron function.
- We’re looking for other targets—additional systems, pathways, and processes—that can serve as the basis for an SMA drug, and we’re asking how we can best measure the effectiveness of these "non-SMN" approaches.
- We're exploring ways that SMN-enhanching approaches and non-SMN approaches might be used in combination with each other, in order to provide treatments for all types, ages, and stages of SMA.
Without basic research, the SMA drug pipeline would not continue to grow and diversify. We need both a breadth and a depth of options in our quest for an effective SMA therapy. Basic research is our investment in future drug development for SMA.
Our Basic Research Funding
Each year, Cure SMA issues a request for basic research proposals. Scientists from around the world submit proposals that address specific unanswered questions in SMA biology. Our Scientific Advisory Board determines the highest priority topics and then selects the best proposals for funding.
The funding Cure SMA provides for basic research also fuels the next step in our research strategy: drug discovery.