cache 470 320 0 50 92 16777215 9780780816947 Genetic Disorders Sourcebook, 7th Ed.

Health Reference Series

Genetic Disorders Sourcebook, 7th Ed.

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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, like height and hair color, and also to invisible differences, such as 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. Finally, many—perhaps most—genetic disorders are caused by a combination of small variations in genes operating in concert with environmental factors.

Genetic Disorders Sourcebook, Seventh Edition offers updated information on 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. A section on disorders with genetic and environmental components explains the hereditary components of Alzheimer disease, cancer, diabetes, mental illness, obesity, addiction, and others. Reports on current research initiatives provide detailed information on the newest breakthroughs in the causes and treatments of genetic disorders, including strategies, like gene therapy, nutrigenomics, and pharmacogenetics that could radically change how we treat these disorders 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 book concludes with a glossary of genetic terms and a list of resources for additional help and information.

This book is divided into parts and chapters. Parts focus on broad areas of interest. Chapters are devoted to single topics within a part.

Part I: Introduction to Genetics describes how genes work and explains what is known about how genetic mutations affect health. It details how genetic inheritance works, explains when genetic counseling might be advisable, and describes how genetic testing works and the type of information it can provide. The part concludes with a discussion of the legal framework currently in place to prevent discrimination on the basis of genetic background.

Part II: Disorders Resulting from Abnormalities in Specific Genes provides basic information about the types of disorders that are caused by changes in one or more genes. These include blood and clotting disorders, connective tissue disorders, heart rhythm disorders, muscular dystrophy and other neuromuscular disorders, cystic fibrosis, and hearing and vision disorders. Individual chapters include information about the inheritance, symptoms, diagnosis, and treatment of each disorder.

Part III: Chromosome Abnormalities offers detailed information about the types of disorders caused by changes in chromosomes. It explains how Down syndrome, fragile X syndrome, Turner syndrome, and other chromosomal disorders are inherited and describes the diagnostic tests and treatment techniques used.

Part IV: Complex Disorders with Genetic and Environmental Components explains what is known about the causes of addiction, obesity, mental health disorders, heart disease, diabetes, cancer, and other disorders with both genetic and environmental components. It describes the genetic associations related to each disorder and discusses the research advances that may lead to improved prevention efforts and treatment outcomes.

Part V: Genetic Research describes recent advances in the field of genetics as doctors seek ways to use knowledge of an individual’s genetic background to target disease prevention and treatment techniques. It includes a discussion of what has been discovered during the course of the Human Genome Project and describes promising new avenues of research, including nutrigenomics, pharmacogenomics, and gene therapy.

Part VI: Information for Parents of Children with Genetic Disorders addresses the challenges of raising special needs children. It discusses early interventions, assistive technologies, educational concerns, and the transition into adulthood. The part also explains government benefits available to children and adults with disabilities and offers estate planning information for families of children with special needs.

Part VII: Additional Help and Information includes a glossary of terms related to human genetics and a directory of resources offering additional help and support.

Standard Features

  • Library binding, 6 x 9
  • 550-650 pages per volume
  • Includes access to Health Reference Series Online.
  • Easy-to-use volumes organized into parts and chapters
  • Parts focus on broad areas of interest; chapters focus on single topics within a part
  • Authoritative content from respected government agencies and institutes, university research centers, professional medical associations, and non-profit health organizations
  • Comprehensive chapters feature generous use of headings and subheadings for ease of navigation
  • Tables, charts, and illustrations display statistical data and supplement explanations
  • Helpful glossary provides definitions of technical terms
  • Resource directories with contact information highlight organizations that can provide further information and support
  • Professionally prepared master index provides easy access to descriptive information, definitions, and related concepts