McMaster researchers have discovered a potential treatment for Sandhoff and Tay-Sachs diseases, rare and often fatal neurodegenerative disorders. These diseases cause progressive loss of motor function due to nerve cell damage. The team, lead by Biology’s Dr. Suleiman Igdoura, determined that the diseases start in the spinal cord, where stress in the endoplasmic reticulum leads to cell death. This finding led them to 4-phenylbutyric acid (4-PBA), an FDA-approved drug, which improved motor function and extended lifespan in mouse models. The findings have been published in the journal Human Molecular Genetics, and have received considerable press from news agencies around the world.

Dr. Igdoura and his team are giving hope to those living with these often fatal diseases and their families.