cache 470 320 0 50 92 16777215 Genetic6 Genetic Disorders Sourcebook, 6th Ed.

Health Reference Series

Genetic Disorders Sourcebook, 6th Ed.

Web Price: $85.00

Genes provide the information that directs the human body’s basic cellular activities, and human genome research suggests that nearly all diseases have a genetic component. Some diseases are caused by gene mutations, which can occur randomly or because of hereditary or environmental factors. But many—perhaps most—genetic disorders are caused by a combination of small variations in genes operating in concert with environmental factors.

Genetic Disorders Sourcebook, 6th Edition, offers updated information on how genes work and how genetic mutations affect health. It provides facts about the most common genetic disorders, and reports on the newest breakthroughs in the causes and treatments of genetic disorders.

The book is organized in the broad subject areas detailed below.

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. Family history and the risk of genetic disorders are also discussed. 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, anhidrotic ectodermal dysplasia, hypercholesterolemia, hereditary deafness 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 discusses the Human Genome Project and describes promising new avenues of research, including pharmacogenomics, and gene therapy. The part concludes with information on Precision Medicine Initiative Cohort Program and genomic medicine.

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


“The book offers a basic but substantial look at the many disorders inherited through bloodlines in addition to insightful information about the expanding field of genetics. While the information in the book is copious (there are 75 chapters), it is easily digestible due to the book’s structure of short chapters and a question-and-answer format.

With the addition of diagrams, bullet points, and an abundance of headings and subheadings, readers will find the material extremely navigable.

This sixth edition conveys the most up-to-date information in regards to genetic disorders relative to the rapid advancements in research happening as we write this....[I]t succeeds at providing informative material about genetic disorders and the often groundbreaking research around them. Recommended."

— American Reference Books Annual, 2017