Human genetics is concerned with the study of the inheritance of characteristics from parents to children. This inheritance in humans depends upon discrete units called factors or genes. Human genes refer to a set of nucleic acid sequences that are encoded as DNA in the twenty-three chromosome pairs. The field of human genetics attempts to understand the genetics of human life and the development of diseases and its effective treatment. The discipline overlaps with other fields such as cytogenetics, biochemical genetics, population genetics, genetic counseling, developmental genetics, genomics, etc. There has been rapid progress in this field and its applications are finding their way across multiple industries such as medicine and biotechnology. The book studies, analyzes and upholds the pillars of human genetics and its utmost significance in modern times. It contains some path-breaking studies in the field of human genetics. In this book, using case studies and examples, constant effort has been made to make the understanding of the difficult concepts of human genetics as easy and informative as possible, for the readers.