Uncovering Cellular Mechanisms Behind Genetic Mutations In ALS
Year: 2020
Led by Assistant Professor Dr. Evangelos Kiskinis, a team of researchers at Northwestern Medicine discovered that mutations in the largest genetic contributor to ALS will lead to dysfunction. This will then lead to the degeneration of motor neurons in the brain. Dr. Kiskinis is part of the Ken and Ruth Davee Department of Neurology, well known for its research in the neurology field. The team’s findings shed light on both the consequences and mechanisms of a defect in the C9orf72 gene. This is known for disrupting the localization of proteins involved in RNA and protein metabolism. Many believe this study will aid the development of therapeutic interventions for ALS. There is still no cure, but if we can do things to slow the disease down and perhaps even extend lives by many years, that would be a huge step.