Genetic Disorders: Sourcebook, 8th Edition (Health Reference Series) (Original PDF from Publisher)

By James Chambers
Genes provide the information that directs the human body’s basic cellular activities. Research on the human genome has shown that the DNA sequences of any two individuals are 99.9 percent identical. That 0.1-percent variation, however, is profoundly important. It contributes to visible differences, such as height and hair color, and invisible differences, such as the increased risk for–or protection from–a myriad of diseases and disorders. As medical researchers unlock the secrets of the human genome, they are learning that nearly all diseases have a genetic component. Some are caused by a mutation in a gene or group of genes. Such mutations can occur randomly or as the result of exposure to hazardous conditions or substances. Other disorders are hereditary. These can be passed down from generation to generation within a family. Genetic Disorders Sourcebook, Eighth Edition offers updated information on where genes are located in the cell, how genes work and how genetic mutations affect health. It provides facts about the most common genetic disorders, including those that arise from mutations in specific genes–for example, muscular dystrophy, sickle cell anemia, and cystic fibrosis–as well as those arising from chromosomal abnormalities–such as Down syndrome and fragile X syndrome. It also details genetic testing and disorders arising due to abnormalities in specific genes such as albinism, alpha-1 antitrypsin deficiency, blood clotting deficiency disorders, connective tissue, endocrine disorders, cystic fibrosis, growth disorders, and others. It explains chromosomal abnormalities and their associated conditions. A section on disorders with genetic and environmental components describes how the environment affects our health and our genes. The hereditary components of Alzheimer disease, cancer, diabetes, mental illness, obesity, addiction, and others are also discussed and also provide updated information about the prognosis of a genetic condition and current treatment approaches. Reports on current research initiatives provide detailed information on the newest breakthroughs in the causes and treatments of genetic disorders, including strategies–such as gene therapy, nutrigenomics, and pharmacogenetics–that could radically change how these disorders are treated in the future. A section for parents of children with genetic disorders offers information about assistive technologies, educational options, transition to adulthood, and estate planning. Information about genetic counseling, prenatal testing, newborn screening, and preventing genetic discrimination is also provided. The section also offers pointers for caregivers of people with genetic disorders. The book concludes with a glossary of genetic terms and a list of resources for additional help and information.

Product Details

• Publisher ‏ : ‎ Omnigraphics Inc; 8th edition (February 1, 2023)
• Language ‏ : ‎ English
• Hardcover ‏ : ‎ 744 pages
• ISBN-10 ‏ : ‎ 0780820487
• ISBN-13 ‏ : ‎ 978-0780820487