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A genetic disorder is a genetic condition caused due to abnormalities in the genome. Such conditions are either inherited or acquired. Acquired defects may be caused due to changes in the DNA or due to new mutations. Genetic disorders can be single-gene disorders or multiple gene disorders. Over 6000 diseases are caused due to single gene mutations. Genetic disorders can be complex and multifactorial, involving a number of different genes and highly influenced by the environment. The field of medical genetics is concerned with the diagnosis of genetic disorders and their management. Though there is no known cure for genetic disorders, not all genetic diseases are fatal. Therefore, providing a quality of life and maintaining patient autonomy is the chief objective of medical genetics. This book unravels the recent studies in the field of medical genetics. Also included herein is a detailed explanation of the role of genetics in the incidence of varied diseases and disorders. For all readers who are interested in medical genetics, the case studies included in this book will serve as an excellent guide to develop a comprehensive understanding.