Mutations in the C9orf72 gene have been identified as the most common genetic cause of ALS. Toxic substances, called dipeptide repeats (DPR), produced as a result of these mutations are believed to play a key role in the development of ALS.
In this webinar, Dr. Tania Gendron, a Canadian working at the Mayo Clinic in Jacksonville, Florida, describes her work to determine whether these cellular byproducts can be used as biomarkers of ALS and allow researchers to more effectively test new ALS treatments. Dr. Gendron explains that the levels of these toxic DPR substances in biological fluid samples of people living with C9orf72-associated ALS can help researchers to determine things like whether the drug is interacting with the correct target, how much of the drug is needed, and when the drug should be given.