Basic Research
Basic research is the first step in developing treatments and a cure for spinal muscular atrophy (SMA). Basic research projects investigate the biology and cause of SMA to identify the most effective strategies for drug discovery.
Our Basic Research Breakthroughs
Cure SMA has been investing in basic research of SMA for decades. Since 2004 alone, we’ve awarded 128 basic research grants for more than $15 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. The FDA has since approved an SMA treatment that replaces this faulty gene
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 already in the body for drug therapies. The SMN2 gene has become the target of two FDA-approved SMA treatments
We helped identify the role of the survival motor neuron (SMN) protein in SMA. 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 produce this protein at high enough levels
We helped develop multiple animal models of the disease. These models represent the full spectrum of disease severity, allowing us to better understand SMA and test new drug candidates
Our Basic Research Priorities
Current and future basic research projects will build on these discoveries. For example:
We want to understand 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 want to learn more about the FDA-approved SMN-based therapies (also called “SMN-enhancing” therapies). We want to know how quickly SMN needs to be replaced 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 systems, pathways, and processes that can be targeted for new SMA treatments. We’re asking how we can best measure the effectiveness of these “non-SMN” approaches
We’re exploring ways that SMN-based therapies and non-SMN therapies can be combined to provide treatments for all ages and stages of SMA
Without basic research, the SMA drug pipeline would not continue to grow and diversify. We need a wide variety of options in our quest for effective SMA treatments. Our investment in basic research paves the way for continued 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.