Genetic Disease Discovery and Therapeutics presents information on methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for treatment of specific genetic and genomic disorders. The 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. The 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 diseasesDocuments evidence regarding mechanisms through which gene defects alters biochemical function and leads to pathologyPresents new techniques being applied to the treatment of gene and genome-based disordersAims to consider the goals of Personalized Precision Medicine as defined by the NIH INDICE: SECTION I Disease Classification and Possible Diagnosis1. Clinical Features to Consider in a Patient with Possible Genetic Disease2. Determining the Presence Of Altered Values in Clinical Laboratory Studies3. Further Laboratory-Based Investigations for Possible Gene or Genome Based DisordersSECTION 2A: Application of Therapies and Strategies for Development of Therapies4. Review Possible Therapies to Address Clinical Manifestations Including Symptoms and Signs and Abnormal Results of Metabolic, Biochemical, Gene Based, Microarray or Chromosome Studies5. Review Investigations of Possible Therapies to Address Underlying Disease-Related Functional Impairments, Possible Known Genetic Disorders, and Review Reports of Established Therapies for Specific Genetic DiseasesSECTION 2B. Discussion of Specific Diseases Where Gene Therapy, Gene-Based Therapies or Small Molecule-Based Therapies Have Been Successful6. Examples of Diseases Where Appropriate Small Molecule Therapies Were Discovered7. Therapies That Address Altered Gene RegulationSECTION 3A Review Research on Therapeutic Design8. Review Research Designed to Investigate Gene Function and Possible Impact of Specific Variants9. Designing Therapies Relevant in Human Genetic DisordersSECTION 3B10. Clinical Trial Designs and Permissions
- ISBN: 978-0-443-23648-8
- Editorial: Academic Press
- Encuadernacion: Rústica
- Páginas: 350
- Fecha Publicación: 01/12/2024
- Nº Volúmenes: 1
- Idioma: Inglés