Category: Genetics

Genetic Disorders and the Fetus 8th Edition

In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world.

In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field

The eighth edition also contains:

• A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction 
• An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing 
• A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome 
• A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics 

Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.

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Color Atlas of Genetics 5th Edition

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.

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In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases.

Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area.

New fully illustrated topics in the revised fifth edition of the atlas include:

• An overview of disorders resulting from structural changes of the genome (genomic disorders)
• Abnormal imprinting patterns
• Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others)
• The CRISPR-Cas system
• Genetic features of the aging processes
• Disorders due to rearrangements of chromatin in the cell nucleus, and others

With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.

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Advanced Genetic Counseling: Theory and Practice 1st Edition

The scope and responsibilities of today’s genetic counselors exceed the reasonable capacity of any one educational resource. While the field’s first-year curriculum may be relatively fixed, the landscape of what comes after that — a dizzying mix of practice, ethics, research design, and professional competencies — is increasingly broad.

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Advanced Genetic Counseling offers an overdue extension of the field’s core curriculum. From navigating ethical dilemmas and potential conflicts of interest to confronting the biases and patterns of thought that can limit counselors’ interactions with clients, it prepares readers to face the profession’s most challenging aspects with confidence.

Drawing on techniques from psychotherapy, social psychology, and health behavior, Advanced Genetic Counseling is an essential resource for trainees and mid-career professionals. It offers a roadmap not just for addressing client needs, but for the future of genetic counseling education.

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Endometrial Gene Expression: An Emerging Paradigm for Reproductive Disorders

The endometrium goes through cyclical changes under the influence of hormones, and immune effectors in the endometrium change their populations cyclically as well. Dynamic changes in immune effectors determine endometrial cytokine and chemokine milieus and, consequently, the endometrial immune response. Endometrial immune responses have been shown to be important for trophoblast invasion and early pregnancy. Indeed, dysregulated endometrial inflammatory immune responses are associated with reproductive failures, such as recurrent pregnancy losses, repeated implantation failure, and gynecological diseases with oncogenic potential. Hence, the investigation of endometrial gene expression may predict infertility, gynecological and oncological conditions.
This book presents the state of the art in endometrial gene expression as well as recent developmental findings relating to reproduction and reproductive disorders. It begins with a review of the genetic regulation of urogenital tract formation and molecular mechanism underlying the physiology of menstrual cycle before moving on to the current and emerging technological advances in molecular biology. Endometrial gene expressions of immune inflammatory conditions, viral infection, metabolic and nutritional conditions, and reproductive disorders are then presented in following chapters. Examples of the use and interpretation of gene expression in clinical scenarios including recurrent pregnancy losses,  infertility and multiple implantation failures are presented with currently available endometrial gene analysis.

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Genetics of Rare Autoimmune Diseases

The main aim of this volume is to provide an updated overview of the genetic basis of a group of complex disorders that are considered rare individually, but show a relatively high prevalence on the whole in developed countries: the rare autoimmune diseases. These are chronic disorders that involve long and expensive treatments with considerable side effects that may dramatically reduce the quality of life of affected people. Therefore, shedding light into their pathologic mechanisms is a major concern given their growing social and economic awareness and impact.

General sections include different chapters on single entities as systemic lupus and sclerosis, Behçet’s disease, Sjogren’s syndrome and polymiositis, and sections devoted to autoimmune vasculitis, hepatic autoimmune conditions, as well as those affecting the nervous system, and a concluding chapter in which the shared predisposition amongst all diseases is discussed. All the chapters are given a homogeneous scheme in which the authors explain the clinical singularities of every disease and report the recent breakthrough discoveries related to them, giving a critical interpretation and suggesting future perspectives. All contributors are renowned researchers with high expertise in each disease. Due to the exponential increase in our understanding of the genetic causes of these complex diseases, a major advance in biomedical discovery is taking place. However, most of the achievements in this field are very recent and there is a lack of bibliography gathering them together. This book is thus filling a gap and will prove a useful companion to clinicians in the first place (internists, rheumatologists, clinical immunologists, and hematologists) but also to basic and applied researchers.

 

 

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