C14 : Early Detection of Familial ALS Using a Transcriptome-Derived Molecular Instability Index


Students Lydia Liu
Charlotte Wong
School HDSB - Oakville Trafalgar High School - Oakville
Level Intermediate 9/10 - Grade 10
Group Group 12 - Health Science IV
Abstract The purpose of this project is to develop and validate a transcriptome-derived molecular instability index (EMII) to investigate presymptomatic molecular alterations in familial ALS mutation carriers. Publicly available RNA-sequencing datasets and statistical modelling in R were used to quantify transcriptomic destabilization across disease states. The goal is to characterize early molecular progression patterns and establish a reproducible framework for presymptomatic ALS risk detection.