Abstract

Neurodegenerative diseases (ND) are a major disease burden. However, due to their complexity the molecular mechanisms resulting in the pathology remain unclear. ND research traditionally relied on using post-mortem (PM) tissue to identify disease markers. However, it is difficult to distinguish between causes and consequences from end-stage disease samples. To address this we will use a resource unique to the Roslin Institute – a large gene edited model of a childhood neurodegenerative disease (Batten’s disease (BD a.k.a. CLN1 or PPT1 -/-). We will identify the molecular alterations taking place throughout disease progression and between brain regions which are typically “spared” and “affected” by the disease. Through subsequent comparison with human PM samples from multiple neurodegenerative conditions, we will have identified proteins with the potential to regulate disease. These proteins may be ideal targets for novel therapy for treatment, or biomarkers for reporting on disease progression in NDs.