Essentials of Human Genetics

by Hema Purandarey

Medical genetics is one of the most rapidly advancing branch of medicine and is recognized as a clinical specialty which provides an insight into the functioning of the human body, in health and disease. Understanding the principles of human genetics is an important component in the diagnosis, management and prevention of several medical disorders. To be a good medical practitioner, every medical student and professional needs to know the fundamentals of human genetics. The book is written with this view in mind and covers various basic aspects of the field. This is written after fifteen years of teaching experience in a medical college in the field of anatomy, embryology and genetics and twenty eight years of working experience in the clinical and laboratory aspects of medical genetics. Today, the treatment of genetic disorders is within reach due to advances in biotechnology. However, this is not available for most genetic disorders. As of now, the emphasis in medical genetics is on prenatal diagnosis, including presymptomatic testing and screening in pregnancy, the neonatal period and population screening. Identification of genes responsible for human disease is a key factor in the progress in medical genetics. In February 2001, a major landmark was the mapping of 95% of the human genome, and the progress and benefits of this achievement are reviewed. Lastly but importantly, the ethical, legal and social issues concerning this field need to be understood and studied in context to the law of the land. Self test is the best test to learn how much you know. Multiple-choice questions can quench this thirst. Most importantly, it is the work of other scientists and genetic professionals whose published works help us to substantiate our knowledge and help as reference. The basics given in the book will open minds of the readers to this exciting branch of new medicine.

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