Genetic Disease Discovery and Therapeutics - Smith, Moyra
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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…mehr

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Produktbeschreibung
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. This 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.
Autorenporträt
Dr. Moyra Smith is 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, her strong record of publications, her active engagement with programs in the Department of Pediatrics, her mentoring of graduate students, and her involvement with the CART Autism Center at UCI. Dr. Moyra Smith has published more than 100 scientific articles in such peer reviewed journals as Frontiers in Molecular Biosciences, Molecular Psychiatry, The Journal of Medical Genetics (JMG), and Cytogenetics Cell Genetics.