Books in Human genetics

Epigenetics in Precision Medicine

1st Edition
Volume 30
November 12, 2021
Jose Luis Garcia-Gimenez
English
Paperback
9 7 8 0 1 2 8 2 3 0 0 8 4
eBook
9 7 8 0 3 2 3 8 5 8 0 5 2

In recent years, knowledge of epigenetic mechanisms underlying disease onset and progression has proven crucial for the development of novel early diagnosis and prognosis biomarkers for patient stratification and precision medicine. Epigenetics in Precision Medicine, a new volume in the Translational Epigenetics series, provides a thorough discussion and overview of current developments in clinical epigenetics with special emphasis on epigenetic biomarkers that can be used for clinical diagnosis, prognosis, patient stratification, and treatment monitoring. Disease types discussed include cancer, metabolic disorders, neurodegenerative diseases, bone disease, and immune-related disorders. The book examines the challenges of advancing epigenetics research and translating findings to the clinic and drug discovery in each of these areas, as well as current solutions; chapter authors discuss how to leverage epigenomic technologies, applications, and tools, such as next-generation sequencing, to discover new epigenetic biomarkers in disease and drug studies. Epigenetics in Precision Medicine focuses on complex epigenetic mechanisms in several pathologies, and explores how epigenetics can power the advance of precision medicine, not only by improving in vitro diagnostic and prognostic tools, but by providing new therapeutic approaches to treat human disease.

Progress in Genomic Medicine

1st Edition
November 4, 2021
Moyra Smith
English
Paperback
9 7 8 0 3 2 3 9 1 5 4 7 2
eBook
9 7 8 0 3 2 3 9 1 5 4 8 9

Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more. In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context.

Prenatal Genetic Counseling

1st Edition
October 20, 2021
Sam Riedijk + 1 more
English
Paperback
9 7 8 0 1 2 8 2 3 3 2 9 0
eBook
9 7 8 0 1 2 8 2 3 3 3 1 3

**Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning.

Reciprocity in Population Biobanks

1st Edition
September 22, 2021
Ma’n H. Zawati
English
Paperback
9 7 8 0 3 2 3 9 1 2 8 6 0
eBook
9 7 8 0 3 2 3 9 1 3 4 8 5

Reciprocity in Population Biobanks: Relational Autonomy and the Duty to Inform in the Genomic Era begins by discussing how current judicial interpretation keeps standard of disclosure at the core of genomic research. The book then outlines multiple limitations individualistic autonomy faces in the context of gene and population biobanks, including an analysis of the complexities of benefit considerations in the research setting. Second, the book explores how individualistic autonomy fails to acknowledge the multilateral relationships implicated in genomic research, including those that affect the broader research community, research participants’ families, and the general public. In carrying out this analysis, this book pays special attention to alternative approaches and ways researchers, public health officials, and judicial bodies might interact in years to come. In other words, implementing an understanding of relational autonomy that acknowledges and sustains the multilateral relationships found in genomic research without　compromising the rights of participants. In short, this book proposes a reconceived duty to inform for researchers and a new standard of disclosure that is more meaningful and impactful for research participants and researchers.

Epigenetics and Metabolomics

1st Edition
Volume 28
August 25, 2021
Paban K. Agrawala + 2 more
English
Paperback
9 7 8 0 3 2 3 8 5 6 5 2 2
eBook
9 7 8 0 3 2 3 8 5 6 5 3 9

Epigenetics and Metabolomics, a new volume in the Translational Epigenetics series, offers a synthesized discussion of epigenetic control of metabolic activity, and systems-based approaches for better understanding these mechanisms. Over a dozen chapter authors provide an overview of epigenetics in translational medicine and metabolomics techniques, followed by analyses of epigenetic and metabolomic linkage mechanisms likely to result in effective identification of disease biomarkers, as well as new therapies targeting the removal of the inappropriate epigenetic alterations. Epigenetic interventions in cancer, brain damage, and neuroendocrine disease, among other disorders, are discussed in-depth, with an emphasis on exploring next steps for clinical translation and personalized healthcare.

Twin and Family Studies of Epigenetics

1st Edition
Volume 27
August 19, 2021
Shuai Li + 2 more
English
Paperback
9 7 8 0 1 2 8 2 0 9 5 1 6
eBook
9 7 8 0 1 2 8 2 0 9 5 2 3

Twin and Family Studies of Epigenetics, Volume 27, the latest release in the Translational Epigenetics series, gathers expert opinions on epigenetic twin and family study research methods, recent findings across various disease areas, and future directions. The book provides in-depth coverage of epigenetics fundamentals, twin and family epigenetic study design, and the broader role of epigenetics in answering questions on the developmental origins of health and disease. Throughout the volume, twin and family studies are employed to examine causes of epigenetic variation, the relationship between epigenetic modifications and mental illness, cancers, cardiovascular disease, diabetes, obesity, high blood pressure, and more. Emerging research methods applied in twin and family studies discussed include imaging epigenetics, exposure-specific DNA methylation changes, and unravelling time trends in epigenetic effects.

Genome Stability

2nd Edition
Volume 26
July 17, 2021
Igor Kovalchuk + 1 more
English
Paperback
9 7 8 0 3 2 3 8 5 6 7 9 9
eBook
9 7 8 0 3 2 3 8 5 6 8 0 5

Genome Stability: From Virus to Human Application, Second Edition, a volume in the Translational Epigenetics series, explores how various species maintain genome stability and genome diversification in response to environmental factors. Here, across thirty-eight chapters, leading researchers provide a deep analysis of genome stability in DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes, and mammals, examining how epigenetic factors contribute to genome stability and how these species pass memories of encounters to progeny. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability, and genome stability in response to aging. This second edition has been fully revised to address evolving research trends, including CRISPRs/Cas9 genome editing; conventional versus transgenic genome instability; breeding and genetic diseases associated with abnormal DNA repair; RNA and extrachromosomal DNA; cloning, stem cells, and embryo development; programmed genome instability; and conserved and divergent features of repair. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly expanding　field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability.

Epigenetics of Exercise and Sports

1st Edition
Volume 25
July 13, 2021
Stuart M Raleigh
English
Paperback
9 7 8 0 1 2 8 2 0 6 8 2 9
eBook
9 7 8 0 1 2 8 2 0 9 3 7 0

Epigenetics of Exercise and Sports: Concepts, Methods, and Current Research explains fundamental epigenetic processes and how these are altered by exercise and sports. After a brief review of fundamental epigenetic biology, this all-new volume in the Translational Epigenetics series offers step-by-step instruction in how epigenetic factors are investigated for their influence over exercise related traits of human physiology, disease, and injury. The current state of knowledge in the field and recent findings are discussed in-depth, illuminating how exercise and sports performance may epigenetically modify our physiology, disease and injury risks, and how this knowledge can be applied in personalized exercise approaches, diagnostics, and treatment. This book also explores the shortcomings of explaining exercise related phenomena using only genomics and traditional biochemical techniques, setting the scene for a paradigm shift in exercise biology. In addition, over a dozen international specialists contribute chapters on exercise and sports epigenetics, and their influence over metabolism, obesity, aging, immunity, and neurological disease, as well as the epigenetic impacts of concussions and sports doping. A concluding chapter discusses ongoing themes in the field and outlooks for future research.

Cytogenomics

1st Edition
May 25, 2021
Thomas Liehr
English
Paperback
9 7 8 0 1 2 8 2 3 5 7 9 9
eBook
9 7 8 0 1 2 8 2 3 5 8 0 5

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping... and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.

Epigenetics in Cardiovascular Disease

1st Edition
Volume 24
March 6, 2021
Yvan Devaux + 1 more
English
Paperback
9 7 8 0 1 2 8 2 2 2 5 8 4
eBook
9 7 8 0 1 2 8 2 2 2 5 9 1

Epigenetics in Cardiovascular Disease, a new volume in the Translational Epigenetics series, offers a comprehensive overview of the epigenetics mechanisms governing cardiovascular disease development, as well as instructions in research methods and guidance in pursing new studies. More than thirty international experts provide an (i) overview of the epigenetics mechanisms and their contribution to cardiovascular disease development, (i) high-throughput methods for RNA profiling including single-cell RNA-seq, (iii) the role of nucleic acid methylation in cardiovascular disease development, (iv) epigenetic actors as biomarkers and drug targets, (v) and the potential of epigenetics to advance personalized medicine. Here, readers will discover strategies to combat research challenges, improve quality of their epigenetic research and reproducibility of their findings. Additionally, discussion of assay and drug development for personalized healthcare pave the way for a new era of understanding in cardiovascular disease.

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health