$100,000 awarded to Dr. Richard Robitaille at the Université de Montréal.
One of the earliest signs of dysfunction in animal models of ALS is the disruption of the place where neurons connect to muscle, called the neuromuscular junction (NMJ). Dr. Robitaille is one of the world’s leading scientists in studying the NMJ. In recent years, he has discovered several abnormalities at the NMJ in ALS mouse models that may help us better understand the disease while also identifying potential new avenues for treatment.
However, it is difficult to know if these findings in mice are the same in humans. With this grant, Dr. Robitaille aims to explore this for the first time. As part of a multi-disciplinary team that includes neurologist, Dr. Angela Genge, neurosurgeons and protein scientists, he will obtain small biopsies of muscle from people living with ALS and study the structure and function of the NMJs with the same methods used in the mouse models. Dr. Robitaille will also compare them to samples previously obtained from individuals without ALS. In addition, he will determine the levels of NMJ proteins in the biopsies to see if the changes mimic those observed in mice.
If this project confirms that human NMJs replicate the disease processes seen in ALS mice, the findings will significantly advance the understanding of human ALS and likely identify exciting new targets for treatments that could move quickly to clinical trials.