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.
1. Genetic Disease Discovery and Therapeutics - p. Page i 2. Cover - p. Page i 3. Front Matter - p. Page ii 4. Table of Contents - p. Page iii 5. Copyright - p. Page iv 6. Dedication - p. Page v 7. Epigraph - p. Page vi 8. Preface - p. Page vii 9. Acknowledgments - p. Page viii 10. List of Illustrations - p. Page ix 11. Chapter 1 : Clinical features to consider in a patient with possible genetic disease - p. Page ix 12. Chapter 2 : Determining the presence of altered values in clinical laboratory studies - p. Page 22 13. Chapter 3 : Further laboratory-based investigations for possible gene- or genome-based disorders - p. Page 38 14. Chapter 4 : Review possible therapies to address clinical manifestations including symptoms and signs and abnormal results of metabolic, biochemical, gene-based studies - p. Page 71 15. Chapter 5 : Review of investigations and possible therapies to address underlying disease manifestations - p. Page 113 16. Chapter 6 : Functional impairments, known genetic disorders, and review reports of established and possible therapies for specific genetic diseases - p. Page 153 17. Chapter 7 : Examples of diseases where appropriate therapies were discovered - p. Page 198 18. Chapter 8 : Therapies that address altered gene regulation - p. Page 254 19. Chapter 9 : Defining disease mechanisms, designing therapies and roles of stem cells - p. Page 287 20. Chapter 10 : Review research designed to investigate gene function and possible impact of specific variants - p. Page 312 21. Chapter 11 : Designing therapies relevant in human genetic disorders - p. Page 347 22. Chapter 12 : Clinical trial designs and permissions - p. Page 399 23. Index - p. Page 425
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.
1. Genetic Disease Discovery and Therapeutics - p. Page i 2. Cover - p. Page i 3. Front Matter - p. Page ii 4. Table of Contents - p. Page iii 5. Copyright - p. Page iv 6. Dedication - p. Page v 7. Epigraph - p. Page vi 8. Preface - p. Page vii 9. Acknowledgments - p. Page viii 10. List of Illustrations - p. Page ix 11. Chapter 1 : Clinical features to consider in a patient with possible genetic disease - p. Page ix 12. Chapter 2 : Determining the presence of altered values in clinical laboratory studies - p. Page 22 13. Chapter 3 : Further laboratory-based investigations for possible gene- or genome-based disorders - p. Page 38 14. Chapter 4 : Review possible therapies to address clinical manifestations including symptoms and signs and abnormal results of metabolic, biochemical, gene-based studies - p. Page 71 15. Chapter 5 : Review of investigations and possible therapies to address underlying disease manifestations - p. Page 113 16. Chapter 6 : Functional impairments, known genetic disorders, and review reports of established and possible therapies for specific genetic diseases - p. Page 153 17. Chapter 7 : Examples of diseases where appropriate therapies were discovered - p. Page 198 18. Chapter 8 : Therapies that address altered gene regulation - p. Page 254 19. Chapter 9 : Defining disease mechanisms, designing therapies and roles of stem cells - p. Page 287 20. Chapter 10 : Review research designed to investigate gene function and possible impact of specific variants - p. Page 312 21. Chapter 11 : Designing therapies relevant in human genetic disorders - p. Page 347 22. Chapter 12 : Clinical trial designs and permissions - p. Page 399 23. Index - p. Page 425
