Introduction to human genetics
Stankiewicz, Lupski, Tekin
1. Modelling candidate genes vs genetic variants
2. Disease in a dish: Cellular models to understand human conditions
3. The Yeast, a versatile model system to study human disease
4. The worm, how can it help?
K. A. Caldwell; G.A. Caldwell
5. Understanding human genetic disease with the fly
6. The fish as a model for human diseases
7. The mouse model
8. Large animal models of rare genetic disorders
9. Crisper/Cas technology
10. Integrative modeling and novel technologies in human genomics
Cellular and Animal Models in Human Genomics Research provides an indispensable resource for applying comparative genomics in the annotation of disease-gene associated variants that are identified by human genomic sequencing. The book presents a thorough overview of effective protocols for the use of cellular and animal modeling methods to turn lists of plausible genes into causative biomarkers. With chapters written by international experts, the book first addresses the fundamental aspects of using cellular and animal models in genetic and genomic studies, including in-depth examples of specific models and their utility, i.e., yeast, worms, flies, fish, mice and large animals.
Protocols for properly conducting model studies, genomic technology, modeling candidate genes vs. genetic variants, integrative modeling, utilizing induced pluripotent stem cells, and employing CRISPR-Cas9 are also discussed in-depth.
- Provides a thorough, accessible resource that helps researchers and students employ cellular and animal models in their own genetic and genomic studies
- Offers guidance on how to effectively interpret the results and significance of genetic and genomic model studies for human health
- Features chapters from international experts in the use of specific cellular and animal models, including yeast, worms, flies, fish, mice, and large animals, among other organisms
Active researchers, basic and translational scientists, clinicians, postgraduates, and students in the areas of genetics, human genomics, pathology, cellular biology, organismal biology, molecular biology, biochemistry, and bioinformatics
- No. of pages:
- © Academic Press 2019
- 1st September 2019
- Academic Press
- Paperback ISBN:
Katherina Walz, Ph.D., Director for the Division for Models of Human Disease at the John P. Hussman Institute for Human Genomics, is a biologist interested in the molecular basis of human genetic conditions, with special emphasis in those that are related to brain function and altered behavioral outcomes. Her research is focused in the validation of the genetic cause, the definition of the phenotypic outcomes, and the elucidation of the molecular and physiological pathways related to human diseases. Dr. Walz is also an Research Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, at the University of Miami Health System, University of Miami, Florida.
Director, Division of Human Disease Modeling in the Center for Molecular Genetics, John P. Hussman Institute for Human Genomics and Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Health System, University of Miami, Miami, FL, USA
Juan Young, Ph.D., is an Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and Co-Director of the Center for Molecular Genetics at the John P. Hussman Institute for Human Genomics, University of Miami Health System, University of Miami, Florida. Young is a neurobiologist interested in identifying epigenetic signatures of human genetic diseases and in establishing animal models of neurological diseases. He has a longstanding interest in neurodevelopmental disorders in general and in understanding the pathogenesis of Rett Syndrome. His work includes the identification of RNA-related functions of MeCP2, mutated in Rett Syndrome and the characterization of cellular and mouse models for this disease.
Co-Director, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics, Research Associate Professor, Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Health System, University of Miami, Miami, FL, USA