Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.
