A roadmap for neurodevelopmental disease modeling for non‐stem cell biologists

• Published in: Stem cells translational medicine Vol. 9; no. 5; pp. 567 - 574
• Main Author: Ernst, Carl
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.05.2020; Oxford University Press
• Subjects: Analysis; Cloning; Concise Review; Concise Reviews; Disease; Ethylenediaminetetraacetic acid; Genes; Genetic engineering; Genome editing; Genomes; Human subjects; Hypotheses; Medical research; Medicine, Experimental; Mutation; Neurodevelopmental disorders; neuronal induction; Phenotypes; Pluripotency; Purification; Quality control; somatic cell reprogramming; Stem cells; therapeutics; stem cells; neuronal induction; therapeutics; neurodevelopmental disorders; somatic cell reprogramming; genetic engineering
• ISSN: 2157-6564; 2157-6580; 2157-6580
• DOI: 10.1002/sctm.19-0344

Stem and derivative cells induced from somatic tissues are a critical tool for disease modeling but significant technical hurdles hamper their use. The purpose of this review is to provide an overview of pitfalls and mitigation strategies for the nonstem cell biologist using induced pluripotent stem cells and investigating neurodevelopmental disorders. What sample sizes are reasonable? What derivation and purification protocols should be used to make human neurons? In what way should gene editing technologies be used to support discoveries? What kinds of preclinical studies are the most feasible? It is hoped that this roadmap will provide the necessary details for experimental planning and execution for those less familiar in the area of stem cell disease modeling. High‐quality human preclinical models will allow for the discovery of molecular and cellular phenotypes specific to different neurodevelopmental disorders, and may provide the assays to advance translational medicine for unmet medical needs.