Cellular and Animal Models in Human Genomics Research (Translational and Applied Genomics) - Tapa blanda

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Katherina Walz, Ph.D., is a Research Associate Professor at the Dr. John T. Macdonald Foundation Department of Human Genetics, and the Director for the Division of Human Disease Modeling at the John P. Hussman Institute for Human Genomics, University of Miami, Florida. Dr. Walz obtained her Ph.D. in Biology (1998) from the University of Buenos Aires, and did a postdoctoral training at Dr. JR Lupski’s laboratory in the Molecular and Human Genetics Department at Baylor College of Medicine, Houston, TX (1998-2004). She established her own laboratory at the Centro de Estudios Científicos (CECS), Valdivia, Chile (2005-2009) and she later moved it to the University of Miami (2009-present). She is interested in the molecular basis of human genetic conditions, from the definition of phenotypic outcomes and the validation of the genetic cause, to the elucidation of the molecular and physiological pathways related to human genetic diseases.

Juan I. Young, Ph.D., is a Research Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and the Co-Director of the Center for Molecular Genetics at the John P. Hussman Institute for Human Genomics, University of Miami, Florida. Dr. Young obtained his Ph.D. in Biology (1998) from the University of Buenos Aires, and did his postdoctoral training at Baylor College of Medicine, Houston, TX (1998-2004). He established his own laboratory at the Centro de Estudios Científicos (CECS), Valdivia, Chile (2005-2009) and moved it to the University of Miami in 2009. Dr. Young is a neurobiologist interested in identifying epigenetic signatures of human genetic diseases and in establishing animal models of neurological diseases. He has a long-standing interest in neurodevelopmental disorders in general, and in understanding epigenetics-mediated pathogenesis processes.

De la contraportada

Ever advancing genomic sequencing technology has made it possible to identify genes and genetic variation that exhibit associations to specific phenotypes. For human geneticists and disease specialists, assigning correlative vs. causative roles to these associations and understanding the physiological consequences of gene variations pose an ongoing challenge, and the vast majority of gene variants remain uncharacterized.

is an indispensable resource for applying comparative genomics in the annotation of disease-gene associated variants identified by human genomic sequencing. Editors Walz and Young have compiled a thorough overview and effective protocols for the use of cellular and animal modeling methods to turn lists of plausible genes into causative biomarkers by rigorous proof for their role in disease. With chapters written by international experts, this book first addresses fundamental aspects of using cellular and animal models in genetic and genomic studies, and moves on to present in-depth examples of specific models and their utility, including yeast, worms, flies, fish, mice, and large animals. Protocols for properly conducting model studies, genomic technology, modeling candidate genes vs genetic variants, integrative modeling, and utilizing induced pluripotent stem cells and employing CRISPR-Cas9, are also discussed in-depth.