Genetic Disease Discovery and Therapeutics
Academic Press Inc (Verlag)
978-0-443-23648-8 (ISBN)
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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.
Dr. Moyra Smith is a Professor Emerita in the Department of Pediatrics and Human Genetics, College of Health Sciences, at the University of California, Irvine, and in past years has held appointments at the National Institutes of Health and Johns Hopkins University. In 2017, the UCI Emeriti Association awarded Dr. Smith the UCI Outstanding Emerita Award in recognition of her continuing research on genetics and genomics, strong record of publications, active engagement with programs in the Department of Pediatrics, mentoring of graduate students, and involvement with the CART Autism Center at UCI. Dr. Moyra Smith has published more than 100 scientific articles in peer-reviewed journals such as Frontiers in Molecular Biosciences, Molecular Psychiatry, the Journal of Medical Genetics (JMG), and Cytogenetics Cell Genetics.
SECTION I Disease Classification and Possible Diagnosis
1. Clinical Features to Consider in a Patient with Possible Genetic Disease
2. Determining the Presence Of Altered Values in Clinical Laboratory Studies
3. Further Laboratory-Based Investigations for Possible Gene or Genome Based Disorders
SECTION 2A: Application of Therapies and Strategies for Development of Therapies
4. Review Possible Therapies to Address Clinical Manifestations Including Symptoms and Signs and Abnormal Results of Metabolic, Biochemical, Gene Based, Microarray or Chromosome Studies
5. 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 Diseases
SECTION 2B. Discussion of Specific Diseases Where Gene Therapy, Gene-Based Therapies or Small Molecule-Based Therapies Have Been Successful
6. Examples of Diseases Where Appropriate Small Molecule Therapies Were Discovered
7. Therapies That Address Altered Gene Regulation
SECTION 3A Review Research on Therapeutic Design
8. Review Research Designed to Investigate Gene Function and Possible Impact of Specific Variants
9. Designing Therapies Relevant in Human Genetic Disorders
SECTION 3B
10. Clinical Trial Designs and Permissions
Erscheint lt. Verlag | 1.1.2025 |
---|---|
Verlagsort | San Diego |
Sprache | englisch |
Maße | 191 x 235 mm |
Themenwelt | Informatik ► Weitere Themen ► Bioinformatik |
Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie | |
ISBN-10 | 0-443-23648-8 / 0443236488 |
ISBN-13 | 978-0-443-23648-8 / 9780443236488 |
Zustand | Neuware |
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