Each year, Cure SMA invites scientists from around the world to submit funding proposals for basic research projects that address specific unanswered questions in SMA biology. Our Scientific Advisory Board then ranks the submitted proposals on both their scientific merit and relevance to Cure SMA’s research priorities. Funding is awarded to the highest ranked projects.
In 2023, Cure SMA awarded a total of $750,000 to six scientists to pursue our basic research priorities and objectives.
Michael Tellier, PhD, at the University of Leicester in the United Kingdom was awarded $114,000 for his research project, “Characterization of the SMN-7SK complex in the regulation of SMN1 and SMN2 expression.”
Meet Dr. Tellier
Dr. Tellier became a principal investigator at the University of Leicester in the UK in January of 2023. For many years, his research has focused on molecules that activate genes by binding to them. Recently, Dr. Tellier became involved in SMA research when, together with Dr. Sylvain Egloff, he found that one of the molecules he is studying regulates the activity of the SMN1 and SMN2 genes.
Both the SMN1 and SMN2 genes encode the SMN protein, which is necessary for motor neuron health and function. In SMA, a mutation in the SMN1 gene results in low levels of the SMN protein, causing motor neuron death. Although the SMN2 “back-up” gene also encodes the SMN protein, most of the protein it produces is shortened and unstable.
Dr. Tellier previously discovered that a small, non-coding RNA molecule called “7SK” binds to and activates the expression of the SMN1 and SMN2 genes. Furthermore, he found that 7SK also interacts with the SMN protein itself to form a complex.
In his current research project, Dr. Tellier and his fellow researchers want to determine if the 7SK-SMN protein complex plays a role in SMN1 and SMN2 gene activation. He will also investigate whether mutations in the SMN1 gene that cause SMA disrupt the formation or function of this complex.
To accomplish these objectives, Dr. Tellier and his research group will create new cell lines. A cell line is a defined population of cells that share a group of identical traits and can be kept alive, or cultured, in a laboratory for an extended period. These new cell lines will have special characteristics that will allow Dr. Tellier and his colleagues to track the expression of the SMN1 and SMN2 genes, as well as the activity of the SMN protein.
From the results of this project, Dr. Tellier and his colleagues hope to learn more about the regulation of SMN1 and SMN2, including whether the SMN protein increases the expression of its own genes. Because all three currently approved SMA treatment work by increasing SMN protein levels, this information will have important implications for current and future SMA treatments. In addition, Dr. Tellier’s new cell lines will not only be useful in this project, they may also be utilized in future SMA research by other scientists.
Cure SMA’s top basic research priorities currently include:
- Learning more about when and where the survival motor neuron (SMN) protein is needed and how it functions in the body.
- Finding new ways to treat SMA, especially those that can be used in combination with approved drugs.
- Using cellular or animal models to better understand the SMA disease process.
- Developing new tools for SMA research, such as new SMA animal models and new ways of tracking disease progression.
Thank You!
Special thanks to the Concepcion Family, Nunemaker Family, Weisman Family, Luke 18:1 Foundation and Dhont Foundation for their generosity to Cure SMA in our quest to invest in basic research that will ultimately drive the next generation of SMA treatments.