title: iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls.
abstract: The elucidation of disease etiologies and establishment of robust, scalable, high-throughput screening assays for autism spectrum disorders (ASDs) have been impeded by both inaccessibility of disease-relevant neuronal tissue and the genetic heterogeneity of the disorder. Neuronal cells derived from induced pluripotent stem cells (iPSCs) from autism patients may circumvent these obstacles and serve as relevant cell models. To date, derived cells are characterized and screened by assessing their neuronal phenotypes. These characterizations are often etiology-specific or lack reproducibility and stability. In this review, we present an overview of efforts to study iPSC-derived neurons as a model for autism, and we explore the plausibility of gene expression profiling as a reproducible and stable disease marker.
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Daria
authors.initials: D
authors.lastname: Prilutsky
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Nathan P
authors.initials: NP
authors.lastname: Palmer
authors.affiliation: Amherst College Class of 2013 Undergraduate Neuroscience Program, Amherst, MA, 01002, USA.
authors.forename: Niklas
authors.initials: N
authors.lastname: Smedemark-Margulies
authors.affiliation: Stem Cell Program, Boston Children's Hospital, Boston, MA 02115, USA.
authors.forename: Thorsten M
authors.initials: TM
authors.lastname: Schlaeger
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA; Divisions of Genetics and Developmental Medicine, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: David M
authors.initials: DM
authors.lastname: Margulies
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: Isaac_Kohane@hms.harvard.edu.
authors.forename: Isaac S
authors.initials: IS
authors.lastname: Kohane
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000188:drug therapy / Q000235:genetics*; D015415:Biomarkers; D018929:Cell Culture Techniques; D002454:Cell Differentiation / Q000235:genetics; D020869:Gene Expression Profiling; D053263:Gene Regulatory Networks; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*; D009474:Neurons / Q000166:cytology / Q000378:metabolism*; D010641:Phenotype; D059467:Transcriptome
chemical_list: D015415:Biomarkers
keywords: autism; gene expression; high-throughput assay; iPSC