Genetic Disease Discovery and Therapeutics

Erscheinungsjahr 2024
ISBN: 978-0-443-23648-8
Verlag: Elsevier Science

Buch, Englisch, 454 Seiten, Format (B × H): 190 mm x 236 mm, Gewicht: 885 g

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.

Autoren/Hrsg.

Smith, Moyra

Fachgebiete

• Naturwissenschaften Biowissenschaften Biowissenschaften Genetik und Genomik (nichtmedizinisch)

Inhaltsverzeichnis

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

II 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 manifestations
6. Functional impairments, known genetic disorders, and review reports of established and possible therapies for specific genetic diseases

III Discussion of specific diseases where gene therapy, gene-based therapies or small molecule-based therapies have been successful
7. Examples of diseases where appropriate therapies were discovered
8. Therapies that address altered gene regulation
9. Stem cell review research on therapeutic design

IV Review research on therapeutic design
10. Review research designed to investigate gene function and possible impact of specific variants
11. Designing therapies relevant in human genetic disorders

V Clinical trials design and permissions
12. Clinical trial designs and permissions

Über Autor(innen)

Smith, Moyra
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.