Name: Genomics of Rare Diseases By Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)
SKU: 9780128201404
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Genomics of Rare Diseases Summary

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches by Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism.

Genomics of Rare Diseases Reviews

This timely and well-written book is a useful addition to a dynamic field of study that has changed markedly over the last two decades. It provides an accurate picture of the current state of genomics as applied to the study of human hereditary disease. The field will continue its rapid evolution, and this book provides a way for a variety scientists and medical practitioners to gain entry into the field, whether for the purpose of research or the practice of medicine. -- (c) Doody Review, 2021, Mark F. Sanders, PhD, reviewer, expert opinion This is an exceptional book for clinicians, clinical laboratorians, and clinical researchers at many different levels. It employs specific diseases and phenotypes to illustrate important genetic concepts and educate about laboratory approaches to genetic diagnosis and gene discovery. The chapters are succinct and well-organized, and the many color illustrations enhance the readers' comprehension of even the most arcane and complex genetic and genomic phenomena. Similarly, chapters on the laboratory approach to diagnosis provide practical information on various genetic and genomic platforms and describe the underlying technologies, providing the reader the tools to understand and apply genomic analyses in both the clinical and research setting . -- V. Reid Sutton, M.D., Professor of Molecular & Human Genetics, Baylor College of Medicine

About Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Claudia Gonzaga-Jauregui grew up in Mexico where she did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contribute to human traits and diseases. Her current research focuses on family-based analyses of rare and common genetic disorders to better understand disease pathophysiology. Claudia believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Claudia has dedicated great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases. Jim Lupski is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics. He received his initial scientific training at Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University receiving his undergraduate degree in chemistry and biology (1979), completing the MD/PhD program in 1985. In 1986, moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992), then establishing his laboratory at Baylor College of Medicine. Jim is an elected member of AAAS (1996), ASCI (1998), IOM/NAM (2002), and American Academy of Arts and Sciences (2013). For his work in human genomics and elucidation of genomic disorders, he received a DSc honoris causa in 2011 from the Watson School of Biological Sciences at CSHL. He has co-authored > 800 scientific publications, co-edited 3 books including the definitive text on genomic disorders, is a co-inventor on more than a dozen patents and delivered over 536 invited lectures in 38 countries.

1. Introduction to concepts of genetics and genomics 2. Karyotyping as the first genomic approach 3. Genomic disorders 4. Genomic sequencing of rare diseases 5. Recessive diseases and founder genetics 6. Dominant and de novo disorders 7. X-linked and mitochondrial disorders 8. Mosaicism in rare disease 9. Dual diagnoses of rare disorders 10. Statistical approaches to rare disease analyses 11. Transcriptomics in rare diseases 12. Other omics approaches to the study of rare diseases 13. Challenges and opportunities in rare diseases research

Additional information

Sku

NGR9780128201404

ISBN 13

9780128201404

ISBN 10

0128201401

Title

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches by Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Author

Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Series

Translational and Applied Genomics

Condition

New

Binding type

Paperback

Publisher

Elsevier Science Publishing Co Inc

Year published

2021-06-25

Number of pages

316

Prizes

N/A

Cover note

Book picture is for illustrative purposes only, actual binding, cover or edition may vary.

Note

This is a new book - be the first to read this copy. With untouched pages and a perfect binding, your brand new copy is ready to be opened for the first time

Genomics of Rare Diseases Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Genomics of Rare Diseases by Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Genomics of Rare Diseases Summary

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches by Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Genomics of Rare Diseases Reviews

About Claudia Gonzaga-Jauregui (International Laboratory for Human Genome Research, Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Mexico)

Table of Contents

Additional information

Customer Reviews - Genomics of Rare Diseases