Amyotrophic lateral sclerosis, more commonly known as ALS, is a progressive neurodegenerative disease in the central nervous system that impacts the brain and spinal cord, resulting in a loss of muscle control.
It is colloquially referred to as Lou Gehrig’s Disease, after the famous baseball player who battled it in the late 1930s, and does not yet have a cure. To better understand the language of ALS, the ALS Glossary below provides definitions for research terms commonly used by our Innovation Ecosystem and the extended ALS community.
Also referred to as “gene modulation” or “target gene modulation,” it refers to the process of temporarily altering gene expression, including the silencing of a gene function or increasing expression. The goal of target modulation is to provide some benefit or conform for those suffering from specific ailments.
Process of demonstrating that a molecular target is directly involved in a disease process, and that modulation of the target will likely have a therapeutic effect. Validations involve performing tests several times to check the same outcomes are always obtained, or by performing tests by a different research group to support outcomes.
A protein typically found within the cell’s nucleus. In ALS patients, it becomes dysfunctional and clumps (aggregates). TDP-43 buildup occurs in about 97% of people with ALS — including those with and without genetic mutations. Ongoing research is focused on TDP-43’s potential as an ALS biomarker.
A gene (or genetic material) that has been isolated from one organism and then transferred into another.