Human Genetics: Concepts and Applications – Today, human genetics is for everyone. It is about our variation more than about our illnesses, and about the common as well as the rare. Once an obscure science or an explanation for an odd collection of symptoms, human genetics is now part of everyday conversation.
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At the same time, it is finally being recognized as the basis of medical science, and health care professionals must be fluent in the field’s language and concepts. Despite the popu- lar tendency to talk of “a gene for” this or that, we now know that for most traits and illnesses, several genes interact with each other and environmental influences to mold who we are. Human Genetics: Concepts and Applications
The exciting narrative writing style, with clear explanations of concepts and mechanisms propelled by stories, reflects Dr. Lewis’s eclectic experience as a medical news writer, blogger, professor, and genetic counselor, along with her expertise in genetics. Updates to this edition include
■ Genetic tests, from preconception to old age
■ Disease-in-a-dish stem cell technology
■ From Mendel to molecules: family exome analysis
■ Allelic diseases: one gene, more than one disease
■ Admixture of archaic and modern humans
■ Gene silencing and genome editing
■ Cancer genomes guide treatment
■ The reemergence of gene therapy
■ Personal genome sequencing: promises and limitations
The transition of genetics to genomics catalyzed slight reorganization of Human Genetics: Concepts and Applications . The order of topics remains, but material that had been boxed or discussed in later chapters because itwas once new technology has been moved up as the “applications” become more integrated with the “concepts.” Human Genetics: Concepts and Applications has evolved with the science.
The Human Touch
Human genetics is about people, and their voices echo throughout these pages. They speak in the narrative as well as in many new chapter introductions, boxes, stories, and end-of-chapter questions and cases.
Compelling Stories and Cases When the parents of children with visual loss stood up at a conference to meet other families with the same very rare inherited disease, Dr. Lewis was there, already composing the opening essay to chapter 5. She knows the little girl in the “ In Their Own Words ” essay in chapter 2 and on the cover with her dog, who is 1 of about 70 people in the world with giant axonal neuropathy. Perhaps there is no
more heart-wrenching image of Mendelian inheritance than the chapter 4 opening photo of a daughter and father, who died from Huntington disease within weeks of each other. Human Genetics: Concepts and Applications
Clinical Application of Human Genetics A working knowledge of the principles and applications of human genetics is critical to being an informed citizen and health care consumer. Broad topics of particular interest include
■ The roles that genes play in disease risk, physical characteristics, and behavior, with an eye toward the
dangers of genetic determinism
■ Biotechnologies, including next-generation DNA sequencing, genetic testing, stem cell technology,
archaic human genome sequencing, gene therapy, familial DNA searches, exome sequencing, cell-free
fetal DNA testing, and personal genome sequencing
■ Ethical concerns that arise from the interface of genetic and genomic information and privacy.
The Lewis Guided Learning System
Each chapter begins with two views of the content. “ Learning Outcomes ” embedded in the table of contents guide the student in mastering material. “ The Big Picture ” encapsulates the overall theme of the chapter. The chapter opening essay and figure grab attention. Content flows logically through three to five major sections per chapter that are peppered with highinterest boxed readings (“ In Their Own Words, ” “ Clinical Connections, ” “ Bioethics: Choices for the Future, ” “A Glimpse of History,” and “ Technology Timelines” ). End-of-chapter pedagogy progresses from straight recall to applied and creative questions and challenges. Human Genetics: Concepts and Applications
Outstanding photographs and dimensional illustrations, vibrantly colored, are featured throughout Human Genetics:
Concepts and Applications. Figure types include process figures with numbered steps, micro to macro representations, and the combination of art and photos to relate stylized drawings to real-life structures.
Free Books Online PDF: Human Genetics: Concepts and Applications – 2014