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Full Description
This book delves into the complexities of genetic inheritance, revealing what happens when scientists, genetic counselors, and parents come together to make decisions that will shape their families' futures. Through compelling family stories and conversations, the book demystifies genetic science and counseling, making the subject accessible and engaging for a general audience.
The book covers the intersection of genetic science and genetic counseling, using real-life inspired family cases to illustrate the process and impact of genetic testing and counseling. It provides insights into the clinical application of genetic discoveries, emphasizing the human stories behind the science.
This book fills a crucial gap in the popular science literature by addressing both the scientific and personal aspects of genetic counseling. Existing books either focus solely on the science or are geared toward professionals, leaving a void for general readers who seek to understand how genetic knowledge can affect their lives and their children's futures.
The Readers will gain a comprehensive understanding of genetic inheritance and its implications for personal and family health. The book's approachable format, combining scientific explanations with personal narratives, will educate and empower readers to make informed decisions about their genetic health. Prospective parents, support groups, health professionals, and amateur genealogists will find valuable insights and guidance in this unique and timely resource.
Contents
A. Introduction.- 1. An unexpected reunion, and the dialogue begins.- 2. Speculation, faith, and professional advice: The long road to modern genetic counseling.- B. Case Studies.- 3. Chromosomes: Packing for the genetic journey.- 4. A deeper dive toward diagnosis: The hunt for "missing" and "extra" genes.- 5. The Diagnostic Deep Dive: How Emerging Technologies are Providing Answers from "Bruiser" to Prospective Dad.- 6. Prenatal genetic diagnosis.- 7. Ethical issues.- 8. De novo mutations appear out of the blue.- 9. Are genetic defects always manifested in the same way?.- 10. Sex determination.- 11. X-linked disorders.- 12. Epigenetic disorders.- 13. Multifactorial polygenic inheritance.- 14. Late onset disorders.- C. Implementing the genetic information.- 15. Decision making from the perspective of the diagnosis clinical lab, counselor, patient/relative.- 16. Questions asked by each tier, filters the information as it flows down.- 17. Politics and economics of funding and insurance future directions.- D. Delving deeper into genetics.- 18. Journey to the center of the cell: The nucleus.- 19. Genotype-Phenotype relationships.- 20. Origin and inheritance of genetic disorders.- 21. How are human disease genes initially identified.- 22. What do flies and worms teach us about human disease.
