Description

English | 2025 | PDF | 5 MB | 428 Pages

Moyra Smith, 9780443236488, 978-0443236488, 978-0-443-23648-8, 0443236488, 044323647X, 9780443236471, 978-0443236471, B0DNSVL6NH

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.