An induced pluripotent stem cell-based chemical genetic approach for studying spinal muscular atrophy.

ABSTRACT:

Introduction

Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of spinal cord motor neurons and neuromuscular junctions. Despite recent developments in therapies for SMA, treatment efficacy largely relies on the administration of drugs early in disease progression and is impacted by underlying patient genetics. Drug discovery for other diseases of the central nervous system (CNS) has also been hindered by heterogeneity in patient genetics and clinical presentations, as well as the need for early intervention.

Methods

To address these hurdles, we utilized a chemical-genetic-based screening approach to adapt the Connectivity Map (CMAP)/L1000 platform to study SMA. To do this, we differentiated moderate and severe SMA patient-specific induced plur

SUBMITTER: Giadone RM 

PROVIDER: S-EPMC12913379 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature