Exploring ALS with AI Part II: Understanding familial and sporadic ALS

Part II: Understanding familial and sporadic ALS
Welcome to our newest blog series where we investigate Amyotrophic Lateral Sclerosis (ALS) using our AI knowledge mapping tools. Check back for our next installment, in which we analyze transcriptomics from spinal cord samples collected from patients as well as a mouse model.

In this second post in our Exploring ALS series, we will begin to dig into some clinical transcriptomics data from patients with ALS. While there are many unknowns to explore within the ALS research space, the specific angle we will take for this analysis is to compare the molecular signatures of sporadic versus familial ALS.

Sporadic ALS, representing about 90% of cases, means the cause of disease is unknown. This is in contrast to familial ALS, in which one of several known germline mutations are present, often resulting in multiple affected family members. To better understand the mechanisms underlying these two categories of ALS, Dangond et al. performed transcriptomics analyses using postmortem tissue samples from spinal cord grey matter of ALS patients. The following two analyses will examine the molecular signature of sporadic and familial ALS, each as compared to non-diseased controls.