Grant: Canada Postdoctoral Research Award (CPRA) program

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. While it affects about 1 in 8000 people worldwide, it is more common in certain areas, including the Saguenay Lac Saint Jean region of Quebec, where up to 1 in 550 people are affected. DM1 impacts many parts of the body, including the heart, muscles, and brain, but people living with DM1 often say that problems like daytime sleepiness and memory difficulties affect their quality of life the most. DM1 is caused by a genetic mutation that leads to abnormal RNA folding, which traps other proteins inside the nucleus of cells. We still have much to learn about how this affects the different organ systems, which is why this research on the brain and neurons is so important. To further investigate this, I will use stem cells donated from people with DM1 and use these to generate neurons to study the neuron specific mechanisms of disease. I will also genetically correct these stem cells to remove the DM1 associated mutation as an internal control. With these cells, I will understand what DM1 looks like in neurons and develop tools or markers that can be used in preclinical and clinical trials to assess DM1 severity. Moreover, I will test the efficacy of FDA-approved drugs to determine if they can be repurposed for DM1. This will be performed in collaboration with a student in the lab who is studying cardiac cells generated from patient donated stem cells. Together, we aim to find therapies that can be repurposed to help people with DM1. Altogether, this work will bridge the gap in our understanding of DM1 through the study of human cells. This will enable a faster translation of our results into clinical trials to directly impact those affected by DM1.