Molecular Diagnostics

by George P. Patrinos (Editor), Wilhelm Ansorge (Editor), Phillip B. Danielson (Editor)

Overview

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter.

Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies.

All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor.

The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management.

Product Details

ISBN-13:	9780128029718
Publisher:	Elsevier Science
Publication date:	11/11/2016
Edition description:	3rd ed.
Pages:	520
Product dimensions:	8.50(w) x 10.88(h) x (d)

About the Author

George P. Patrinos is a Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, and Head of Division of Pharmacology and Biosciences of the same department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, and Health Sciences, Rotterdam (the Netherlands), and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, from 2018 until the end of 2024, he was Chair of the Global Genomic Medicine Collaborative (G2MC). He served 12.5 years as a full member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA). George has more than 340 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as The Lancet, Nature Genetics, Nature Reviews Genetic, Nucleic Acids Research, Genes & Development. He has also coauthored and coedited more than 15 textbooks, among which the renowned textbook Molecular Diagnostics, published by Academic Press, now in its 3rd edition, while he is the editor of Translational and Applied Genomics book series, published by Elsevier. Furthermore, he serves as the Editor-In-Chief of the prestigious Pharmacogenomics Journal (TPJ), published by Nature Publishing Group, Associate Editor, and member of the editorial board of several scientific journals, and advisory and evaluation committees. Apart from that, George is the main coorganizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine with more than 50 conferences organized in more than 25 countries worldwide.

Dr. George Patrinos is an Associate Professor at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of molecular diagnostics, high-throughput mutation screening, the development of online mutation diagnostic tools, and the implementation of genomics into healthcare, particularly for health systems in developing countries. George Patrinos has published more than 170 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. Dr. Patrinos is also the co-author of Economic Evaluation in Genomic Medicine (2015) and co-Editor of Molecular Diagnostics, Second Edition (2009), both published by Elsevier, and serves as Communicating Editor for the journal Human Mutation. Additionally, he is co-organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”.

Prof. Dr. Wilhelm Ansorge is a Senior Research Scientist and coordinator of the Biochemical Instrumentation Programme at the European Molecular Biology Laboratory in Heidelberg, Germany. His research interests include the development of the first complete Human Genome microarray, with numerous applications in gene expression studies and high-throughput Molecular Diagnostics.

Table of Contents

Chapter 1: Molecular Diagnostics: Past, Present, and Future

Section I: Molecular Diagnostic Technology

Chapter 2: Allele-Specific Mutation Detection by PCR-ARMS and PCR-ASO

Chapter 3: Competitive Oligopriming

Chapter 4: Oligonucleotide Ligation Assays for the Diagnosis of Inherited Diseases

Chapter 5: Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation

Chapter 6: Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis

Chapter 7: Capillary Electrophoresis

Chapter 8: Temperature and Denaturing Gradient Gel Electrophoresis

Chapter 9: Two-Dimensional Gene Scanning

Chapter 10: Real-Time Polymerase Chain Reaction

Chapter 11: Pyrosequencing

Chapter 12: Molecular Cytogenetics in Molecular Diagnostics

Chapter 13: Detection of Genomic Duplications and Deletions

Chapter 14: Analysis of Human Splicing Defects Using Hybrid Minigenes

Chapter 15: DNA Microarrays and Genetic Testing

Chapter 16: Human Genome Microarray in Biomedical Applications

Chapter 17: Use of High Throughput Mass Spectrographic Methods to Identify Disease Processes

Chapter 18: The Application of Proteomics to Disease Diagnostics

Section II: Applications of Molecular Diagnostics and Related Issues

Chapter 19: Identification of Genetically Modified Organisms

Chapter 20: Pharmacogenetics and Pharmacogenomics: Impact on Drug Discovery and Development

Chapter 21: Molecular Diagnostic Applications in Forensic Science

Chapter 22: Molecular Diagnostics and Comparative Genomics in Clinical Microbiology

Chapter 23: Preimplantation Genetic Diagnosis

Chapter 24: Genetic Monitoring of Laboratory Animals

Chapter 25: The Use of Locus-Specific Databases in Molecular Diagnostics

Chapter 26: Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells

Chapter 27: Automated DNA Hybridization and Detection

Chapter 28: The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays

Chapter 29: Miniaturization Technologies for Molecular Diagnostics

Chapter 30: Human Gene Patents and Genetic Testing

Chapter 31: Genetic Counselling and Ethics in Molecular Diagnostics

Chapter 32: Genetic Testing and Psychology

Chapter 33: Safety in Biomedical and Other Laboratories

Chapter 34: Quality Management in the Laboratory

What People are Saying About This

From the Publisher

This practical reference on all the new technologies and applications used in clinical diagnostic laboratories is thoroughly updated form the second edition

Editorial Reviews

"...the book is uniform in style. The text is free of jargon and is well written in an easy to understand style. ...This book is a great resource for experienced readers, giving them a wide overview of the most up-to-date methods. It is also a great book for students and medical professionals who want to learn about the molecular tools used in diagnostics. ...a great teaching aid for courses involving molecular biology, genetics and diagnostic techniques." —AUSTRALIAN BIOCHEMIST (April 2006)

"...the book will be useful to investigators in the diagnostic laboratory and to scientists generally who want a summary of current methods. ...Inclusion of ethical and safety considerations (as well as a section on patents) is a distinct plus, not often seen. ...this is a well organized and edited contribution." —DOODY'S (October 2005)

From the Publisher