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Books in Molecular genetics

Chromatin Signaling and Diseases
2nd Edition
Olivier Binda + 2 more
English
Chromatin Signaling and Diseases, Second Edition, a volume in the Translational Epigenetics series, covers the molecular mechanisms that regulate gene expression, which governs embryonic development, growth, and human pathologies associated with aging, such as cancer. Although human genome sequencing continues to improve, molecular mechanisms regulating gene expression remain largely misunderstood. The impact of gene expression defects associated with malfunctioning chromatin signaling are considered in this update. In addition, this new edition has addresses developments in the field, from phase separation of membrane-less organelles and local segregation of factors to chromatinization of naked foreign DNA and cancer evolution as regulated by chromatin signaling.Chromatin signaling proposes that small protein domains recognize chemical modifications on the genome scaffolding histone proteins, facilitating the nucleation of enzymatic complexes at specific loci that then open up or shut down the access to genetic information, thereby regulating gene expression. The addition and removal of chemical modifications on histones, as well as the proteins that specifically recognize these are also considered.
The Chromosome 22q11.2 Deletion Syndrome
A Multidisciplinary Approach to Diagnosis and Treatment
1st Edition
Donna M. McDonald-McGinn
English
The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder.
Prenatal Genetic Counseling
Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty
1st Edition
Sam Riedijk + 1 more
English
**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.
Immortal
Our Cells, DNA, and Bodies
1st Edition
David Goldman
English
In recent times, the boundary between living and non-living has been blurred by advances in genomics, cell biology, and molecular neuroscience, whereby humans are repaired, enhanced, or made anew. Scientists and physicians are now able to keep cells, organs, and bodies alive indefinitely and can return cells or DNA to our bodies and make new cells for the purpose of treating disease or growing new tissue. Meanwhile, transhuman technologies create illusions of immortality. Immortal: Our Cells, DNA, and Bodies synthesizes what we know about life and death from a genetic, molecular, and cellular perspective, demarcates limits of knowledge, and poses new questions. Award-winning researcher and writer David Goldman examines in-depth three keys to understanding the nature and continuity of life: 1) epigenetic (ephemeral) vs genetic (durable) transgenerational memory; 2) life’s cellular nature, and the ability to make bodies from cells; and 3) the distinction between bodies and persons. Grounded in recent scientific evidence and real-life cases that test our historical understanding of life and death, Goldman probes the nature of molecular continuity in the face of mortal extinction, encompassing how changes to the DNA code can be both long-lasting and transgenerational, and the continuous nature of cellular and molecular information transmission. In tying these themes together, Immortal asks us to apply fresh scientific concepts to examine, for ourselves, the continuity of being in the face of mortality.
Diagnosis and Management of Hereditary Cancer
Tabular-Based Clinical and Genetic Aspects
1st Edition
John W. Henson + 1 more
English
Many hereditary cancer syndromes are linked to alterations in single genes. Detection and clinical interpretation of these alterations can guide cancer risk reduction for patients and their families through screening, prophylactic measures, and other strategies. Diagnosis and Management of Hereditary Cancer summarizes hereditary syndromes and their associated cancers and genes. The information is presented in 50 practice-enhancing tables that relate clinical, genetic, diagnostic, and management aspects in a manner that has previously not been available in a single reference. Intended to guide the specialist as well the novice, this volume will elevate the care of hereditary cancer patients and their families.
Clinical DNA Variant Interpretation
Theory and Practice
1st Edition
Conxi Lázaro + 2 more
English
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more.
Developmental Human Behavioral Epigenetics
Principles, Methods, Evidence, and Future Directions
1st Edition
Volume 23
Livio Provenzi + 1 more
English
Developmental Human Behavioral Epigenetics: Principles, Methods, Evidence, and Future Directions, Volume 23, a new volume in the Translational Epigenetics series, offers the first systematic account of theoretical G79 frameworks, methodological approaches, findings, and future directions in the field of human behavioral epigenetics. Featuring contributions from leading scientists and international researchers, this book provides a comprehensive overview of human behavioral epigenetics, with a close examination of evidence gathered to-date from animal models, challenges of human-based research and clinical translation, pathways towards drug discovery, and next steps in research. Areas of focus include prenatal stress exposures, preterm behavioral epigenetics, intergenerational exposures, trauma and neglect, socio-economic conditions, maternal caregiving and attachment, study design, and epigenetics and psychotherapy.
Nucleic Acids as Gene Anticancer Drug Delivery Therapy
1st Edition
Loutfy H. Madkour
English
Nucleic Acids as Gene Anticancer Drug Delivery Therapy highlights the most recent developments in cancer treatment using nucleic acids, nanoparticles and polymer nanoparticles for genomic nanocarriers as drug delivery, including promising opportunities for targeted and combination therapy. The development of a wide spectrum of nanoscale technologies is beginning to change the scientific landscape in terms of disease diagnosis, treatment, and prevention. This book presents the use of nanotechnology for medical applications, focusing on its use for anticancer drug delivery. Various intelligent drug delivery systems such as inorganic nanoparticles and polymer-based drug delivery are discussed. The use of smart drug delivery systems seems to be a promising approach for developing intelligent therapeutic systems for cancer immunotherapies and is discussed in detail along with nucleic acid-targeted drug delivery combination therapy for cancer. Nucleic Acids as Gene Anticancer Drug Delivery Therapy will be a useful reference for pharmaceutical scientists, pharmacologiests, and those involved in nanotechnology and cancer research.
Introductory Review on Sirtuins in Biology, Aging, and Disease
1st Edition
Leonard Guarente + 2 more
English
Introductory Review on Sirtuins in Biology and Disease provides key insights for scientists and advanced students who need to understand sirtuins and the current research in this field. This book is ideal for pharmaceutical companies as they develop novel targets using sirtuins for metabolic diseases, cancer and neurodegenerative illnesses. Sirtuins are a diverse family of proteins, with several members in mammals. The functional diversity of sirtuins is rather broad, and they have been implicated in various central biological processes. Thus, they are also highly relevant in the context of various human diseases, from cancer to neurodegeneration.
Molecular Pathology
The Molecular Basis of Human Disease
2nd Edition
William B. Coleman + 1 more
English
As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states.