Genetic Disease Discovery and Therapeutics

Moyra Smith

• Publisher: Academic Press
• Year: 2024
• Topic: Biological Sciences
• eBook ISBN:
  9780443236471
• Subtopic: Genetics & Genomics
• Index: Biological Sciences

**Selected for 2026 Doody's Core Titles in Clinical Genetics**Genetic Disease Discovery and Therapeutics presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders.This book investigates methodologies applied to the characterization of downstream functional effects of specific gene mutations associated with altered phenotypes and clinical disease. It documents evidence of how specific mutations influence pathology and lead to disease manifestations. This book also reviews information on therapeutic approaches that could potentially be applied in diseases due to gene defects. Genetic Disease Discovery and Therapeutics is a valuable reference for scientists and graduate students involved in laboratory research related to genetics, physiology, pathology, and pharmacology as well as clinicians who encounter patients with genetic disorders. - Considers refined diagnostic techniques for genetic diseases - Documents evidence regarding mechanisms through which gene defects alter biochemical function and lead to pathology - Presents new techniques being applied to the treatment of gene and genome-based disorders - Aims to consider the goals of personalized precision medicine as defined by the NIH

Table of contents

• Cover
• Front Matter
• Table of Contents
• Copyright
• Dedication
• Epigraph
• Preface
• Acknowledgments
• List of Illustrations
• Chapter 1 : Clinical features to consider in a patient with possible genetic disease
• Chapter 2 : Determining the presence of altered values in clinical laboratory studies
• Chapter 3 : Further laboratory-based investigations for possible gene- or genome-based disorders
• Chapter 4 : Review possible therapies to address clinical manifestations including symptoms and signs and abnormal results of metabolic, biochemical, gene-based studies
• Chapter 5 : Review of investigations and possible therapies to address underlying disease manifestations
• Chapter 6 : Functional impairments, known genetic disorders, and review reports of established and possible therapies for specific genetic diseases
• Chapter 7 : Examples of diseases where appropriate therapies were discovered
• Chapter 8 : Therapies that address altered gene regulation
• Chapter 9 : Defining disease mechanisms, designing therapies and roles of stem cells
• Chapter 10 : Review research designed to investigate gene function and possible impact of specific variants
• Chapter 11 : Designing therapies relevant in human genetic disorders
• Chapter 12 : Clinical trial designs and permissions
• Index
• A