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Developmental Abnormalities In Human Induced Neurons And Neural Precursor Cells Derived From Patients With Idiopathic Autism And Chromosome 16p11.2 Deletion Syndrome
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Mehta, Monal. Developmental Abnormalities In Human Induced Neurons And Neural Precursor Cells Derived From Patients With Idiopathic Autism And Chromosome 16p11.2 Deletion Syndrome. Retrieved from https://doi.org/doi:10.7282/t3-h442-2a89

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TitleDevelopmental Abnormalities In Human Induced Neurons And Neural Precursor Cells Derived From Patients With Idiopathic Autism And Chromosome 16p11.2 Deletion Syndrome
NameMehta, Monal (author); Millonig, James (chair); DiCicco-Bloom, Emanuel (internal member); Rasin, Mladen-Roko (internal member); Lu, Chi-Wei (outside member); Rutgers University; School of Graduate Studies
Date Created2021
Other Date2021-05 (degree)
SubjectiPSCs, Neuroscience
DescriptionThis dissertation has implemented induced pluripotent stem cells (iPSCs), induced neurons (iNs), and neural precursor cells (NPCs) to examine developmental phenotypes in vitro for individuals with idiopathic autism spectrum disorder, Chromosome 16p11.2 deletion syndrome, and healthy control individuals. The goal of this work was to take a precision medicine approach to studying ASD in order to begin uncovering neurodevelopmental deficits and identifying subgroups of ASD, which will allow for more personalized treatment options in the future. In comparison of affected cells (iNs and NPCs) to control cells (iNs and NPCs), we have found significant differences in measures of development, including gene expression, neurite outgrowth, and proliferation. When examining the different cohorts of individuals at the proteomic level, phosphoproteomic level, and through whole genome sequencing, we found significant observable alterations. These data have allowed us to conclude that I-ASD and Chr16p11.2 deletion syndrome are distinct disorders, defined by unique genetic profiles. Examination of this omic data has allowed us to further conclude a convergence of pathways for ASD and Chr16p11.2, which might be contributing to the similarities in phenotypes observed in vitro. Further, we are able to conclude that patient derived induced pluripotent stem cells maintain the genetic profile of the donor, and can be used as a powerful system for studying complex neurodevelopmental disorders similar to what has been described in this dissertation.
NotePh.D.
NoteIncludes bibliographical references
NoteIncludes vita
Genretheses
Persistent URLhttps://doi.org/doi:10.7282/t3-h442-2a89
Languageeng
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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