Identification of novel biomarkers for C9ORF72-linked diseases, combining a targeted approach with an unbiased screen

Given the lack of validated biomarkers for diagnostic purposes, to predict disease progression, or to evaluate potential therapies for ALS and related disorders caused by a mutation in C9ORF72, our discovery of a link between the amount of C9ORF72 RNA in brain and a patient's survival holds promise. As such, we will investigate the potential utility of C9ORF72 levels as a much-needed biomarker for these fatal diseases, using RNA and protein obtained from a range of brain tissues as well as body fluids, such as blood and the fluid found in brain and spine (cerebrospinal fluid). In addition to this approach that is focused on a promising candidate, we will also employ a hypothesis-free screen to find other potential biomarkers. To this end, we will use an innovative technique that investigates all small RNA that is present in cerebrospinal fluid, enabling us to obtain a biomarker signature of brain and spine. Using this complementary strategy we will be able to develop an urgently needed panel of biomarkers for these debilitating diseases.