1st Edition

Diagnostics and Gene Therapy for Human Genetic Disorders

By K.V. Chaitanya Copyright 2023
    344 Pages 5 Color & 54 B/W Illustrations
    by CRC Press

    344 Pages 5 Color & 54 B/W Illustrations
    by CRC Press

    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.


    1. A blend of classical human genetics with molecular and genome-based applications
    2. Techniques applied for the diagnosis of genetic disorders
    3. Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment
    4. Role of gene therapy in the amelioration of disorders
    5. 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.

    Chapter 1 Genetic Analysis
    Chapter 2 Genetic Variations in Human Beings
    Chapter 3 Genetic Disorders
    Chapter 4 Techniques for the Diagnosis of Genetic Disorders
    Chapter 5 Diagnosis of Genetic Disorders
    Chapter 6 Gene Therapy
    Chapter 7 Applications of Gene Therapy
    Chapter 8 Applications of Molecular Diagnostics
    Chapter 9 Case Studies



    K.V. Chaitanya is Professor in the Microbiology and Food Science Technology Department, GITAM University, Visakhapatnam, India. Prof. Chaitanya has a Ph.D. in Life Sciences from Pondicherry University, Pondicherry. Prof. Chaitanya received a postdoctoral fellowship from the Department of Biotechnology, Govt of India, to pursue research at the Indian Institute of Science, Bengaluru, India. He has over 18 years of experience in research and academics in genomics and molecular biology. He has worked in various capacities in academic and research institutes of international reputation and has published 60 research articles. He has authored two books on cell and molecular biology and genomics and has filed five patents to protect the copyright of his experimental products. Prof. Chaitanya has academic awards and fellowships to his credit.