AcuraStem co-founder Justin Ichida co-authored the groundbreaking research paper "Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons," published in Nature Medicine February 5. Dr. Ichida was the principal investigator on the study, which involved many collaborating labs. The research paper details how the Ichida lab used patient-derived induced motor neurons to explore the pathogenic mechanisms of the C9ORF72 mutation—a repeat expansion mutation that is the most common cause for Amyotrophic Lateral Sclerosis (ALS). The researchers showed that the repeat-expanded C9ORF72 is haploinsufficient (having only a single functional copy of the gene) in ALS, resulting in reduced levels and function of the C9ORF72 protein. The team showed that restoring C9ORF72 protein levels or augmenting the protein's function with constituently active RAB5, or chemical modulators of RAB5 effectors, rescues patient neuron survival and ameliorates the neurodegenerative process in mouse models. The research demonstrates how the use of patient cellular models can lead to the discovery of novel disease processes and potential ways to correct them.