Essentials of Medical Genetics

The branch of medicine, which involves the diagnosis and management of hereditary disorders is known as medical genetics. Birth defects, mental retardation, cancer genetics, prenatal diagnosis, autism, etc. fall within the scope of medical genetics. Some of the sub-specialties within this field are cytogenetics, clinical genetics, molecular genetics, mitochondrial genetics, etc. Basic metabolic studies, chromosome studies and molecular studies are used as diagnostic evaluation tools to determine inborn errors of metabolism, chromosomal disorders and single gene disorders. At present, there is no known cure for genetic disorders. However, symptoms can be managed with medication and diet. Research in this field is actively seeking new medications and gene therapies for treating genetic disorders. This book elucidates new techniques and applications of medical genetics in a multidisciplinary manner. It provides significant information of this discipline to help develop a good understanding of medical genetics and related fields. It is a vital reference tool for genetic counselors, nutritionists, diagnostic laboratory technicians, physicians and students.