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Advances in Neurobiology

Neurodevelopmental Disorders

Employing iPSC Technologies to Define and Treat Childhood Brain Diseases

Editors: DiCicco-Bloom, Emanuel, Millonig, James (Eds.)

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  • Provides a compendium of iPSC reviews concerning state of the art technologies and how they are being applied to human neurodevelopmental disorders
  • Discusses common phenotypes and potential molecular mechanisms among diverse neurodevelopmental disorders
  • Suitable for basic and clinical neuroscientists, clinicians, psychologists, other health related practitioners and educators
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About this book

This book contains a compendium of induced pluripotent stem cells (iPSCs) articles and reviews concerning state of the art technologies and how they are being applied to human neurodevelopmental disorders.  With the establishment of effective technologies to produce iPSCs and their derivatives, like neural precursors, neurons, and glia, researchers have new platforms to study neurodevelopmental disorders.  iPSC technology enables researchers to study how human neurons develop in individuals with neurodevelopmental disorders, providing an unparalleled opportunity to investigate their etiology.  In turn, researchers have now begun to understand the underlying molecular and cellular pathways that contribute to human diseases. iPSCs technologies also provide an emerging tool for future translational studies and disease classification.  The chapters will emphasize how among the diverse idiopathic and genetic disorders, there are common clinical as well as cellular and molecular phenotypes.

About the authors

Emanuel DiCicco-Bloom, M.D. is Professor of Neuroscience and Cell Biology and Pediatrics (Child Neurology & Neurodevelopmental Disabilities) at Rutgers Robert Wood Johnson Medical School (RWJMS) in New Jersey and a member of graduate programs in Cell & Developmental Biology, Neuroscience, and Toxicology at Rutgers University. He graduated summa cum laude from Princeton University, received his M.D. from then Cornell University Medical College, and trained in Pediatrics and Neurology at New York Hospital-Cornell Medical Center, joining RWJMS in 1990.
Dr. DiCicco-Bloom has broad experience performing basic and translational research on neurodevelopmental disorders including animal models and human induced pluripotent stem cells (iPCSs). As an active child neurologist, his research focuses on defining molecular and cellular pathways that regulate production of neuronal cells (neurogenesis) during brain development, and how related abnormalities contribute to developmental disorders including autism. He investigates how growth signals, genetic factors, and environmental toxins impact cell proliferation, survival, and fate determination during brain development using rat and mouse neural stem cells in culture and in vivo, with a focus on the cerebral cortex, cerebellum, and hippocampus. To begin defining mechanisms that are more directly relevant to human disorders, recent collaborative studies with Co-Editor James H. Millonig, Ph.D. have focused on creating human induced neural stem cells (NPCs) from people with autism, to determine their neurobiological signatures. Significantly, by comparing NPCs from two forms of autism, including idiopathic and genetically defined (CNV 16p11.2 Deletion Syndrome), these studies reveal a common neurobiological phenotype consisting of reduced neural process outgrowth and cell migration in autism compared to control NPCs. Moreover dysregulation of the mTOR signaling pathway appears to be central to these phenotypes, as pathway manipulation both corrects autism deficits and recreates abnormalities in relevant controls. This new era of exploring neuropsychiatric conditions in human neurons may provide more relevant cellular and molecular pathways on which to target therapeutic interventions that may be “personalized” to the needs of the specific individual.
Dr. DiCicco-Bloom has long served the autism scientific and advocacy communities, providing scientific expertise to federal agencies including NIH, DOD, NSF, and IACC, and disease advocacy organizations including National Alliance for Autism Research, Autism Science Foundation, Autism Speaks, Autism Tissue Program, Brain Canada, Rett Syndrome Foundation, and Simons Foundation. He Chaired the Scientific Program Committee of the 2008 International Meeting for Autism Research (IMFAR) meeting (London) and Co-Chaired 2010 (Philadelphia), and has long served the IMFAR Program Committee. For the Society for Neuroscience, he has served on many committees (PECC, GPA, Audit, Rigor and Reproducibility Working Group) and as a Councilor. Currently, he is Chair of the NIH Developmental Brain Disorders Study Section, is a member of the DOD Autism Research Program and the American Brain Coalition (ABC) Board of Directors, and serves as Scientific Advisor to the Eagles Autism Foundation. He serves on the editorial boards of Autism Research, Molecular Autism, and other developmental neuroscience journals, and has authored numerous research articles and book chapters in neuroscience, child neurology, and psychiatry.

James H. Millonig Ph.D. is associate professor in the department of Neuroscience and Cell Biology and resident member in the Center for Advanced Biotechnology and Medicine at Robert Wood Johnson Medical School-Rutgers University. 
Dr. Millonig graduated from The University of Rochester magna cum laude with a B.S. in Biochemistry. After college he received a M.Sc. degree from Oxford University, University College studying B subtilis sporulation. Dr. Millonig matriculated in the Princeton University Molecular Biology PhD program and performed his thesis research in the lab of Shirley Tilghman Ph.D., President emerita of Princeton University. During his PhD, he was trained in genetics, mouse development, and molecular biology. Subsequent post-doctoral research, using mouse genetic approaches to study cerebellar development, was performed in Mary E. Hatten’s laboratory at The Rockefeller University. He joined the faculty at Rutgers in 1999.
Dr. Millonig has studied CNS development throughout his career applying molecular genetic approaches to understand basic mechanisms and disease. His work in collaboration with Emanuel DiCicco-Bloom M.D. and Linda Brzustowicz M.D. demonstrated genetic association of ENGRAILED2 (EN2) with autism spectrum disorder and defined autism-like behaviors in mouse models that could be reversed by pharmacological treatment. His lab also identified the orphan GPCR, Gpr161, as an unknown, important regulator of neural tube closure and lens development. Forward mouse genetic approaches demonstrated that Gpr161 functions through the retinoic acid (RA) pathway. His lab is currently studying rare human mutations in the RA metabolic pathway and Gpr161 and their impact on development. More recently, Dr. Millonig and Dr. DiCicco-Bloom have applied iPSC-based approaches to study idiopathic and 16p11.2 Deletion Syndrome. They have defined neurodevelopmental phenotypes in culture and are applying numerous omic strategies to define the downstream signaling and cell biological pathways affected in autism. He is the recipient of many research awards including Basil O’Connor Starter Research Award, NARSAD Young Investigator Award, and the Thomas A Edison Patent Award for medical diagnostics. He has over 100 abstracts, papers, and grants related to autism and neurodevelopmental disorders. He has been an active reviewer for many scientific journals including Molecular Psychiatry, Translational Psychiatry, and eLife. For the NIH, he has been an ad hoc member of Clinical Neuroplasticity and Neurotransmitters and Genetics of Health and Disease, was a standing member of the NIH Developmental Brain Disorders Study Section (2010-16) and has also contributed to NIH Loan Repayment Program, BRAIN, and NIH Director’s Early Independence Awards initiatives.
He is currently the Director of the Rutgers-RWJMS-Princeton University MD/PhD program and is senior associate dean in the Rutgers School of Graduate Studies. He was co-PI on an NIH Director’s Fund Broadening Experiences Scientific Training (BEST) training grant. In these roles, Dr. Millonig has developed numerous educational initiatives including the BEST program called iJOBS, which includes all Rutgers campuses across NJ that has reached 836 trainees or 16,258 person hours in 4 years.

Table of contents (10 chapters)

Table of contents (10 chapters)
  • Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons

    Pages 1-31

    Sundberg, Maria (et al.)

  • Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome

    Pages 33-53

    Zhao, Xinyu (et al.)

  • IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies

    Pages 55-77

    Germain, Noelle D. (et al.)

  • Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons

    Pages 79-107

    Turkalj, Luka (et al.)

  • Dysregulation of Neurite Outgrowth and Cell Migration in Autism and Other Neurodevelopmental Disorders

    Pages 109-153

    Prem, Smrithi (et al.)

Buy this book

eBook $149.00
price for USA in USD
  • ISBN 978-3-030-45493-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $199.99
price for USA in USD
  • ISBN 978-3-030-45492-0
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Neurodevelopmental Disorders
Book Subtitle
Employing iPSC Technologies to Define and Treat Childhood Brain Diseases
Editors
  • Emanuel DiCicco-Bloom
  • James Millonig
Series Title
Advances in Neurobiology
Series Volume
25
Copyright
2020
Publisher
Springer International Publishing
Copyright Holder
Springer Nature Switzerland AG
eBook ISBN
978-3-030-45493-7
DOI
10.1007/978-3-030-45493-7
Hardcover ISBN
978-3-030-45492-0
Series ISSN
2190-5215
Edition Number
1
Number of Pages
IX, 305
Number of Illustrations
3 b/w illustrations, 23 illustrations in colour
Topics

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