Renew your nervous system and build stamina kriya

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.

Clinical Application of Human Genetics A working knowl- edge 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

Preface

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■ 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 stu- dent 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 high- interest boxed readings (“ In Their Own Words, ” “ Clinical Con- nections, ” “ Bioethics: Choices for the Future, ” “A Glimpse of History,” and “ Technology Timelines” ). End-of-chapter peda- gogy progresses from straight recall to applied and creative questions and challenges.

Dynamic Art 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 draw- ings to real-life structures.

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New to This Edition!

The genomics of today evolved from the genetics of the twen- tieth century. A Glimpse of History features throughout the book capture key moments in time. Clinical Connections bring chapter concepts to patients and health care providers, with thought-provoking questions for discussion. Key Concepts after all major sections are now questions.

Highlights in the new edition include the following:

Chapter 1 What Is in a Human Genome? ■ The story of young Nicholas Volker, near death when

exome sequencing led to a diagnosis—and a treatment

Chapter 2 Cells ■ The human microbiome

Chapter 3 Meiosis, Development, and Aging ■ Progress for progeria ■ Maternal and paternal age effects on gametes

Chapter 4 Single-Gene Inheritance ■ Family exome analysis solves a medical mystery

Chapter 7 Multifactorial Traits ■ Blond hair among the Melanesians ■ Smoking-related lung cancer

Chapter 8 Genetics of Behavior ■ Genetic risks for posttraumatic stress disorder,

depression, autism ■ Heritability of intelligence at different ages

Chapter 11 Gene Expression and Epigenetics ■ Long noncoding RNAs

Chapter 12 Gene Mutation ■ Gonadal mosaicism ■ Allelic disease—more common than we thought ■ Exon skipping causes and treats disease

Chapter 13 Chromosomes ■ Harnessing XIST to silence trisomy 21 ■ Cell-free fetal DNA for noninvasive prenatal diagnosis

Chapter 15 Changing Allele Frequencies ■ The Clinic for Special Children treats the Amish

Chapter 16 Human Ancestry and Evolution ■ Updated terminology and evolutionary trees ■ Admixture, the Neanderthals, Denisovans, and us ■ What makes us human?

Chapter 17 Genetics of Immunity ■ Genomic epidemiology tracks an outbreak ■ Reverse vaccinology ■ Mimicking CCR5 mutations to prevent HIV infection

Chapter 18 Cancer Genetics and Genomics ■ Summary figure of cancer at different levels

■ Driver and passenger mutations ■ Cancer genomes ■ Cell-free tumor DNA ■ How BRCA1 causes cancer

Chapter 19 Genetic Technologies: Patenting, Modifying, and Monitoring DNA

■ The Supreme court and DNA patents ■ Gene silencing and genome editing

Chapter 22 Genomics ■ Genome sequencing and annotation ■ Practical medical matters ■ Types of information in human genomes ■ A gallery of genomes ■ Comparative genomics ■ Do you want your genome sequenced?

NEW FIGURES

4.6 Eye color 4.8 Loss-of-function and gain-of-function mutations 7.10 Copy number variants 8.6 Nicotine’s effects at the cellular level 8.9 Exome sequencing and autism 9.17 Replication bubbles 12.5 Allelic disease of connective tissue 12.10 Exon skipping and Duchenne muscular dystrophy 13.14 XIST silences trisomy 21 14.11 Several steps identify STRs 15.13 Antibiotic resistance 16.13 Admixture of haplotypes 16.18 What makes us human? 17.14 Filaggrin and allergy 17.18 Genome sequencing to track outbreaks 18.1 Levels of cancer 18.12 Evolution of a cancer 18.13 Cancer chromosomes 19.7 Gene silencing and genome editing

NEW TABLES

2.2 Stem Cell Sources 3.4 Longevity Genes 7.6 Study Designs for Multifactorial Traits 13.2 Maternal Serum Markers 15.1 Clinical Connection: Genetic Disorders among the Amish 19.2 Genetically Modified Foods 22.1 Selected Projects to Analyze Human Genomes 22.2 Cost of Sequencing Human Genomes 22.3 A Gallery of Genomes

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ACKNOWLEDGMENTS

Human Genetics: Concepts and Applications, Eleventh Edition, would not have been possible without the editorial and pro- duction dream team: senior brand manager Rebecca Olson, product development director Rose Koos, executive marketing manager Patrick Reidy, lead content licensing specialist Car- rie Burger, designer Tara McDermott, developmental editors Anne Winch, Erin Guendelsberger, and Emily Nesheim, proj- ect manager Sheila Frank, copyeditor Beatrice Sussman, and photo editor extraordinaire, Toni Michaels. Many thanks to the fabulous reviewers. Special thanks to my friends in the rare dis- ease community who have shared their stories, and to Jonathan Monkemeyer and David Bachinsky for helpful Facebook posts. As always, many thanks to my wonderful husband Larry for his support and encouragement and to my three daughters, my cats, and Cliff the hippo.

Eleventh Edition Reviewers Andy Andres

Boston University Elizabeth Alter

York College Ann Blakey

Ball State University Bruce Bowerman

University of Oregon James Bradshaw

Utah Valley University Dean Bratis

Villanova University Susan Brown

Kansas State University Michelle Coach

Asnuntuck Community College Jonathon S. Coren

Elizabethtown College Tracie Delgado

Northwest University

Dan Dixon University of Kansas Medical Center

Jennifer Drew University of Florida

Gregory Filatov University of California Riverside

Yvette Gardner Clayton State University

Ricki Glaser Stevenson University

Debra Han Palomar Community College

Bradley J. Isler Ferris State University

Bridget Joubert Northwestern State University

Patricia Matthews Grand Valley State University

Gemma Niermann University of California, Berkeley and Saint Mary’s College

Ruth S. Phillips North Carolina Central University

Mabel O. Royal North Carolina Central University

Mark Sanders University of California, Davis

Jennifer Smith Triton College

Michael Torres Warren Wilson College

Jo Ann Wilson Florida Gulf Coast University

Erin Zimmer Lewis University

This book continually evolves thanks to input from instructors and students. Please let me know your thoughts and sugges- tions for improvement. ( rickilewis54@gmail.com )

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