Respiratory Genetics

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There has been a recent explosion of knowledge in the field of respiratory genetics. This authoritative text brings together current knowledge in respiratory genetics in a single volume.

The book includes a comprehensive introductory section to provide guidance and aid understanding of key basic concepts in respiratory genetics, including statistical methods, sample collection, bioinformatics, and functional genomics. This is followed by a series of disease-specific chapters that review epidemiology, natural history, monogenic determinants, complex disease components, disease management, and likely future developments.

Respiratory Genetics is an essential reference for pulmonologists, translational researchers, and clinical geneticists, and the text will also be a useful library reference.

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Editorial Reviews

Doody's Review Service
Reviewer: Joel C Seidman, MD (William Beaumont Hospitals)
Description: This is a unique compilation of basic and clinical sciences of respiratory medicine, edited from the perspective of the eclectic learning and experience of Edwin K. Silverman, MD, PhD, et al. In the introductory chapters, the authors reiterate information regarding traditional mammalian genetics, then explore the newer science of genomics including the basic molecular biology of heredity, the laboratory methodologies by which this biology has become understood, and the nomenclature and processes of documentation and archiving newly gathered information. The authors explain how the translation of peculiarities or constancies in genomics might predict or explain the pharmacobiology of respiratory medications now in use and/or lead to the "bio-logical" development of future pharmaceuticals. The latter part of the book is committed to explicit considerations of respiratory pathophysiologies with suspected or known heritable contributions: obstructive lung diseases (asthma, chronic obstructive pulmonary disease, and cystic fibrosis), interstitial lung diseases (idiopathic pulmonary fibrosis and sarcoidosis), and miscellaneous common conditions (bronchogenic carcinoma and certain respiratory infections) as well as miscellaneous rare disorders (primary pulmonary hypertension, congenital, metabolic, and neuromuscular disorders, surfactant disorders, lymphangioleiomyomatosis, and Hermansky-Pudlak syndrome).
Purpose: In aggregate, a comprehensive attempt is made to adopt observations of authorities from diverse scientific disciplines which do not necessarily regularly mingle even in the highest-regarded niches of academia. It is the editors' intent to combine current observations regarding clinical and molecular genetics, in general as well as with specific reference to selected bronchopulmonary pathophysiology, and current understanding in clinical respiratory medicine, wherein dysfunction and disease derive in part or wholly from perturbations in genomics or respiratory disorders of independent origin follow a natural history guided by heritable forces. Admittedly, such an endeavor would not permit "connection of all the dots," not just because the number and origin of contributors is so eclectic, but because their disciplines do not commonly overlap to a degree that any one individual might be even superficially knowledgeable across all the fields. Nonetheless, the science is far more elaborately explored perhaps than in any earlier attempt I have perused; in fact, I am unaware of any other book that has so comprehensively addressed the breadth of this challenge. This book successfully yokes basic science and clinical pulmonology in a manner uncommonly observed before.
Audience: The detailed handling of basic molecular and cellular respiratory biology makes the entire text suited for an experienced reader. However, if selectively perused, the genetic biology is clear, simplified, and concise enough to prove elaborative for clinicians. The simple approach provides enlightening information to well-informed practicing pulmonologists, and is sufficiently tame in its handling of the aforementioned diseases to amply inform readers who crave an understanding of the real-life events dictated by and evolving from the molecular biology and the disorders due to the genetic aberrations.
Features: The book focuses primarily upon the genetic molecular biology believed to underlie the evolution of common as well as rare bronchopulmonary diseases, and concurrently reviews the clinical features and natural history of these disorders. It appears to be novel as a comprehensive work linking basic science to a broad and seemingly all-inclusive array of clinical pulmonary medicine entities.
Assessment: This is an extremely useful book that helps to explain the genetic basis of common and rare pulmonary disorders. It is targeted at specialists in the field of pulmonary medicine and is well suited for fellows in training and all medical personnel interested in the role of genetics in common and uncommon diseases.
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Product Details

  • ISBN-13: 9780340814321
  • Publisher: Taylor & Francis
  • Publication date: 9/30/2005
  • Series: A Hodder Arnold Publication Series
  • Pages: 496
  • Product dimensions: 10.90 (w) x 8.30 (h) x 1.30 (d)

Meet the Author

Edwin K Silverman, Assistant Professor of Medicine, Harvard Medical School, Boston, USA

Steven D Shapiro, Parker B. Francis Professor of Medicine, Harvard Medical School, Brigham & Womens Hospital, Boston, USA

David A Lomas, Professor, Respiratory Medicine Unit, University of Cambridge, UK

Scott T Weiss, Professor of Medicine, Harvard Medical School, Boston, USA

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Table of Contents

Part 1: Key Concepts in Respiratory Genetics
Overview of human genetics
Phenotypes for Human Respiratory Genetics
Testing for association in genetic studies
Sample Collection and Genotyping for Human Respiratory Genetics
Molecular characterization of genetic variation: sample collection and processing in human respiratory genetics
Molecular characterization of genetic variation: genetic variation, genotyping, and sequencing
Bioinformatics: public databases and SNPs
Bioinformatics: genomics and proteomics in lung disease: microarrays and bioinformatics issues
Functional genomics: clinical functional genomics
Functional genomics: expression and purification of recombinant proteins
Functional genomics: functional characterization of a protein
Functional genomics: biophysical analysis of proteins and protein–protein interactions
Functional genomics: crystallography, nuclear magnetic resonance, and modeling
Functional genomics: functional analysis of mutant proteins in cells
Genomic physiology in animals
Part 2: Obstructive lung diseases
Asthma genetics
Chronic obstructive pulmonary disease
Cystic fibrosis
Part 3: Interstitial lung diseases
Idiopathic pulmonary fibrosis
Part 4: Miscellaneous pulmonary conditions
Pulmonary hypertension
Genetics of lung cancer
Respiratory infections
Congenital, metabolic, and neuromuscular diseases
Other rare lung diseases: disorders of surfactant homeostasis
Other rare lung diseases: lymphangioleiomyomatosis
Other rare lung diseases: Hermansky–Pudlak Syndrome
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