Novel Concepts in iPSC Disease Modeling

Novel Concepts in iPSC Disease Modeling

1st Edition - January 8, 2022

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  • Editor: Alexander Birbrair
  • eBook ISBN: 9780128238837
  • Paperback ISBN: 9780128238820

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The series Advances in Stem Cell Biology is a timely and expansive collection of comprehensive information and new discoveries in the field of stem cell biology. iPSCs - Novel Concepts, Volume 15 addresses how important induced pluripotent stems cells are and how can they can help treat certain diseases. Somatic cells can be reprogrammed into induced pluripotent stem cells by the expression of specific transcription factors. These cells have been transforming biomedical research over the last 15 years. This volume will address the advances in research of how induced pluripotent stem cells are being used for treatment of different disorders, such as liver disease, type-1 diabetes, Parkinson’s disease, macular degeneration of the retina and much more. The volume is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation; and is contributed by world-renowned authors in the field.

Key Features

  • Provides overview of the fast-moving field of stem cell biology and function, regenerative medicine and therapeutics
  • Covers spinal cord injuries, type-1 diabetes, liver disease, Parkinson’s disease, graft vs. host disease, and much more
  • Contributed by world-renown experts in the field


Researchers and scientists in stem cell therapy, cell biology, regenerative medicine, and organ transplantation. Graduate and undergraduate students in the above fields

Table of Contents

  • Cover image
  • Title page
  • Table of Contents
  • Advances in Stem Cell Biology
  • Copyright
  • Dedication
  • List of contributors
  • About the editor
  • Preface
  • Chapter 1. Induced pluripotent stem cells: novel concepts for respiratory disease modeling
  • List of abbreviations
  • Introduction
  • Recapitulating lung development using induced pluripotent stem cells
  • Modeling lung disease in the conducting airways
  • Modeling lung disease in the distal airspace
  • Modeling viral infection of the lung
  • Concluding remarks
  • Chapter 2. iPSC for modeling of metabolic and neurodegenerative disorders
  • Introduction
  • What are iPSCs?
  • How are iPSCs obtained?
  • Current iPSCs models overview
  • Metabolic disorders
  • Cardiovascular disorders
  • Diabetes
  • Neurodegenerative disorders
  • Future applications
  • Limitations
  • Conclusions
  • Chapter 3. Induced pluripotent stem cells for modeling open-angle glaucoma
  • Introduction
  • Current treatment options for POAG
  • Induced pluripotent stem cells as cellular models of diseases
  • iPSC-TM cells as a model of glaucoma
  • iPSC-RGCs as a model of glaucoma
  • Patient-derived iPSCs as a model of glaucoma
  • Drug discovery using iPSCs as a glaucoma model
  • Conclusion
  • Chapter 4. Patient-specific induced pluripotent stem cells for understanding and assessing novel therapeutics for multisystem transthyretin amyloid disease
  • Introduction
  • ATTR amyloidosis pathogenesis
  • Current standards of care for patients with ATTR amyloidosis
  • Limitations of current pre-clinical disease models
  • Developing IPSC-based models of hereditary ATTR amyloidosis
  • Hepatic proteostasis remodeling in IPSC-based models of ATTR amyloidosis
  • The clinical trial in a test tube: revolutionizing the drug discovery pathway for systemic amyloid disease
  • Future directions
  • Conclusions
  • Chapter 5. iPSCs for modeling choroideremia
  • Eye structure and function
  • Inherited retinal dystrophies
  • Choroideremia
  • Genetics of choroideremia
  • Pathophysiology of choroideremia
  • Animal models of choroideremia
  • Cellular models of choroideremia
  • Human induced pluripotent stem cells
  • Human iPSCs for choroideremia
  • Human iPSC-derived retinal pigment epithelium
  • Human iPSC-derived RPE for modeling choroideremia
  • Human iPSC-derived RPE for proof-of-concept studies of gene supplementation for choroideremia
  • Human iPSC-derived RPE for proof-of-concept studies of translational read-through for choroideremia
  • Future directions for modeling choroideremia
  • Chapter 6. Applications of human induced pluripotent stem cell and human embryonic stem cell models for substance use disorders: addiction and neurodevelopmental toxicity
  • Introduction
  • The epidemic of drug abuse and addiction
  • Identification of genetic targets for treatment of substance use disorders
  • Generation of human induced pluripotent stem cell-derived neuronal cell lines as models for drug addiction
  • Limitations of human induced pluripotent stem cell models of drug abuse
  • Use of human embryonic stem cells and human induced pluripotent stem cells as models for neurodevelopmental effects
  • Conclusions
  • Chapter 7. Induced pluripotent stem cells for modeling cardiac sodium channelopathies
  • Introduction
  • Induced pluripotent stem cell model of sodium channelopathies (Table 7.1)
  • Summary and future perspectives
  • Chapter 8. iPSCs for modeling Danon disease
  • Introduction
  • The application of iPSC-based modeling of Danon disease
  • Application of iPSC-cardiomyocytes to evaluate autophagic dysfunction
  • The application of an iPSC-based model for drug testing
  • Future perspectives
  • Chapter 9. Human-induced pluripotent stem cells for modeling of Niemann-Pick disease type C1
  • Introduction
  • Traditional models of NPC1 and rationale for human stem cell-derived models
  • Human-induced pluripotent stem cell-derived models of NPC1
  • Drug discovery applications
  • Conclusions and future directions
  • Chapter 10. iPSC-based modeling in psychiatric disorders: opportunities and challenges
  • Introduction
  • The rationale of iPSC-based disease modeling
  • Major results from iPSC-based modeling of psychiatric disorders
  • Advances in cell culture systems for iPSC-based modeling of psychiatric disorders
  • Uncovering causality in iPSC-based modeling of psychiatric disorders
  • Conclusion and outlook
  • Author contributions
  • Funding
  • Chapter 11. Research applications of induced pluripotent stem cells for treatment and modeling of spinal cord injury
  • Introduction
  • Application of iPSCs for SCI cell-based therapies
  • Application of iPSCs to generate 3D tissue for grafting into SCI
  • Application of iPSC-derived organoids for spinal cord modeling and research
  • Conclusion
  • Chapter 12. Functional outcomes of copy number variations of Chrna7 gene: current knowledge and new insight from induced pluripotent stem cells studies
  • Introduction
  • CHRNA7 locus and CNVs (copy number variations)
  • Distribution and functions of α7 nicotinic receptors in the nervous system
  • Clinical characteristics of CHRNA7 CNV in human patients: heterozygous deletion and duplication, homozygous deletion
  • Novel concepts on the functions of the α7nAChR obtained through the use of iPSC models
  • Conclusions
  • Index

Product details

  • No. of pages: 336
  • Language: English
  • Copyright: © Academic Press 2022
  • Published: January 8, 2022
  • Imprint: Academic Press
  • eBook ISBN: 9780128238837
  • Paperback ISBN: 9780128238820

About the Editor

Alexander Birbrair

Dr. Alexander Birbrair received his bachelor’s biomedical degree from Santa Cruz State University in Brazil. He completed his PhD in Neuroscience, in the field of stem cell biology, at the Wake Forest School of Medicine under the mentorship of Osvaldo Delbono. Then, he joined as a postdoc in stem cell biology at Paul Frenette’s laboratory at Albert Einstein School of Medicine in New York. In 2016, he was appointed faculty at Federal University of Minas Gerais in Brazil, where he started his own lab. His laboratory is interested in understanding how the cellular components of different tissues function and control disease progression. His group explores the roles of specific cell populations in the tissue microenvironment by using state-of-the-art techniques. His research is funded by the Serrapilheira Institute, CNPq, CAPES, and FAPEMIG. In 2018, Alexander was elected affiliate member of the Brazilian Academy of Sciences (ABC), and, in 2019, he was elected member of the Global Young Academy (GYA), and in 2021, he was elected affiliate member of The World Academy of Sciences (TWAS). He is the Founding Editor and Editor-in-Chief of Current Tissue Microenvironment Reports, and Associate Editor of Molecular Biotechnology. Alexander also serves in the editorial board of several other international journals: Stem Cell Reviews and Reports, Stem Cell Research, Stem Cells and Development, and Histology and Histopathology.

Affiliations and Expertise

Department of Pathology, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil Department of Radiology, Columbia University Medical Center, Medical Center, USA

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