Stem Cells in Modeling Human Genetic Diseases

1. Front Matter

   Pages i-xii

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2. Modeling Fragile X Syndrome in Human Pluripotent Cells

   • Tomer Halevy, Nissim Benvenisty

   Pages 1-10

3. Induced Pluripotent Stem Cells in Familial Dilated Cardiomyopathy

   • Kwong-Man Ng, Jenny C. Y. Ho, Yee-Ki Lee, Chung-Wah Siu, Hung-Fat Tse

   Pages 11-28

4. Induced Pluripotent Stem Cells and Amyotrophic Lateral Sclerosis

   • Miguel Mitne-Neto

   Pages 29-44

5. iPS Cells and Spinocerebellar Ataxia

   • Carole Shum, Agnes Lumi Nishimura

   Pages 45-61

6. Induced Pluripotent Stem Cells and Vascular Disease

   • Sophia Kelaini, Amy Cochrane, Andriana Margariti

   Pages 63-81

7. iPS Cells and Cardiomyopathies

   • Hiroko Nakahama, Elisa Di Pasquale

   Pages 83-110

8. Cancer Stem Cells and Chemoresistance

   • Toshio Kubo, Nagio Takigawa, Katsuyuki Kiura, Mitsune Tanimoto

   Pages 111-119

9. Stem Cells to Understand the Pathophysiology of Autism Spectrum Disorders

   • Maria Rita Passos-Bueno, Karina Griesi-Oliveira, Andrea Laurato Sertié, Gerson Shigeru Kobayashi

   Pages 121-142

10. Back Matter

    Pages 143-147

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While most stem cell books focus on basic aspects and/or cell therapy, this book emphasizes the relevance of stem cells obtained from patients, the so-called “patients in a petri dish” as tools to investigate human genetic diseases for which there are no available effective treatment. Chapters embrace several examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others. The text is a current and timely resource for postgraduate students, scientists and clinicians, interested in applications of this rapidly developing field of research in disease modeling, drug development, and emerging issues that it brings to regenerative medicine.

• Dystrophies
• Laminopathies
• Neurodegeneration
• Psychiatric disorders
• iPS cells

“The target audience of this book are students, researchers and clinicians interested in the recent developments in the field. The book is well written and, thanks to the good introductory section in each of the chapters, even non-experts in the field will be able to follow. The figures in the book are well-designed … . The book gives a good overview about the current state of research in these fields and can therefore be recommended for interested readers.” (Christian Schnell, Human Genetics, Vol. 135, 2016)

• Human Genome and Stem-Cell center(HUG-CELL), Department of Genetics & Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil

  Mayana Zatz

• Human Genome and Stem-Cell center(HUG-CELL),Department of Genetics & Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil

  Oswaldo Keith Okamoto

Dr. Mayana Zatz is a professor of Human and Medical Genetics and is currently the director of the Human Genome Research Center and Institute of stem-cells in genetic disorders, at the University of São Paulo. She completed a Ph.D. in Human and Medical Genetics there and was a post-doc in medical genetics at the University of California. Her research in human and medical genetics focuses mainly on the following aspects of neuromuscular disorders: novel genes identification, genotype-phenotype correlations, mechanisms of clinical variability and stem-cells as a tool to understand gene expression and their therapeutic applications. She published about 300 peer-reviewed papers that were cited 8700 times ( h=43). She has been actively involved in ethical aspects related to genome research, genetic testing and political decisions regarding the approval of the Brazilian embryonic stem-cell bill by the Congress in 2005 and by the Supreme Court in 2008.

Dr. O. Keith Okamoto is a professor in the Department of Genetics and Evolutionary Biology at the University of São Paulo (USP). Prior to joining the University, he was a professor of Neurosciences at the Medical School of the Federal University of São Paulo. He earned his Ph.D. in Biochemistry and Molecular Biology at the USP and he conducted research as a postdoctoral fellow in the Department of Molecular and Cellular Biology at Harvard University, where he was also affiliated to the Harvard’s Bauer Center for Genomics Research. Dr. Okamoto is a member of the Brazilian Cell Therapy Network, and head of the Translational Genomics Laboratory at USP. His current research focuses on the interplay between stem cell biology and cancer, with emphasis on the genetic and molecular mechanisms inducing a stem cell-like phenotype in cancer cells, their role in tumor heterogeneity and aggressiveness, and the contribution of normal stem cells to tumor development and metastasis. Preclinical therapy studies for cancer and some neurological disorders comprise another major scientific interest of his group.

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