New method to identify ALS through blood tests, developed by RIKEN and others

Explanation

A joint research team from RIKEN, Kyoto University, and Osaka University developed a new method to identify patients with amyotrophic lateral sclerosis (ALS) from data on gene expression in the blood. By analyzing blood data from 233 ALS patients and 508 healthy individuals using a machine learning method (MMD), they found that a combination of three genes—PRKAR1A, QPCT, and TMEM71—whose relationship to ALS had not previously been known, serves as a marker distinguishing patients from healthy individuals. They achieved a high average AUC (a measure of discrimination accuracy) of 0.83. This is expected to lead to early detection of ALS through blood tests alone and to the exploration of new therapeutic targets.