Grant: Doctoral Research Award: Canada Graduate Scholarships

Huntington's disease (HD) is a genetic disorder that leads to the gradual breakdown of nerve cells in the brain, causing problems with movement, thinking, and behaviour. Currently, there are no treatments that can stop or slow down the progression of HD. Recently, genome-wide association studies have shown that a protein called Med15 is a potential modifier of the disease. Med15 is important for gene regulation, and it has been linked to when motor symptoms begin in HD patients. However, very little is known about how Med15 is involved in HD. Our lab has shown that Med15 binds to the mutant Huntington protein, which forms clumps in the brains of people with HD. This suggests that Med15 may be interacting with these harmful protein clumps, but we do not yet understand how this affects the disease. It is clear, however, that changes in Med15 may influence the way HD affects cells, as has been seen in other similar disorders. To explore this further, we are using human stem cells that are turned into brain-like structures to study how Med15 and the mutant Huntington protein interact in human nerve cells. These models, which can be made from patient samples, will help us learn more about the role of Med15 in HD and could eventually lead to new ways to treat the disease.