This book offers a comprehensive, coherent, up-to-date and practical guide to PGD, from procedures to new clinical and laboratory practice to perspectives on ethical and social issues. Useful both in practice and for answering patient enquiries.
This comprehensive text provides a much-needed review of a disease that is currently garnering the interest of molecular biologists, translational scientists, and clinicians. The volume includes emerging developments in the molecular genetics of endometrial carcinoma. In addition to covering the basic genetics of endometrial carcinoma, chapters also cover a wide range of signaling pathways implicated in endometrial carcinoma. A section of the book includes a number of genetically engineered mouse models, which contribute to understanding the role of various genetic alterations in the development and progression of endometrial carcinoma. These models also provide preclinical models for developing effective targeted therapeutic approaches. Endometrial carcinoma is the most common malignancy of the female genital tract in the United States and the number of cases continues to increase around the world. This book is a meant to serve as a resource for a wide range of scientists, from molecular geneticists to signal transduction biologists, as well as to both clinicians and scientists interested in developing targeted therapeutic approaches for women with endometrial carcinoma.
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years.
The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis.
The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
This book provides a series of comprehensive views on various important aspects of vertebrate photoreceptors. The vertebrate retina is a tissue that provides unique experimental advantages to neuroscientists. Photoreceptor neurons are abundant in this tissue and they are readily identifiable and easily isolated. These features make them an outstanding model for studying neuronal mechanisms of signal transduction, adaptation, synaptic transmission, development, differentiation, diseases and regeneration. Thanks to recent advances in genetic analysis, it also is possible to link biochemical and physiological investigations to understand the molecular mechanisms of vertebrate photoreceptors within a functioning retina in a living animal.
Photoreceptors are the most deeply studied sensory receptor cells, but readers will find that many important questions remain. We still do not know how photoreceptors, visual pigments and their signaling pathways evolved, how they were generated and how they are maintained. This book will make clear what is known and what is not known. The chapters are selected from fields of studies that have contributed to a broad understanding of the birth, development, structure, function and death of photoreceptor neurons. The underlying common word in all of the chapters that is used to describe these mechanisms is “molecule”. Only with this word can we understand how these highly specific neurons function and survive. It is challenging for even the foremost researchers to cover all aspects of the subject. Understanding photoreceptors from several different points of view that share a molecular perspective will provide readers with a useful interdisciplinary perspective.
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist.
Comprising 31 clinical protocols from the world’s foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis.
To maximize clinical utility, this handbook features:
· Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom
Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
All animals, including humans, derive from a single cell, which possesses all the genetic instructions needed to define how the animal will look like. However, during development, the millions of cells that derive from the zygote will only select part of this genetic information to give rise to the various organs of the body. The coordination of different cell behaviours during development results in the formation of specialized tissues and organs giving rise to highly adapted animals. This book provides an overview of how this diversification is achieved during organ formation and how it may have evolved. Conserved cellular processes are presented using examples from selected vertebrate and invertebrate species that illustrate how developmental biologists are solving the complex puzzle of organ formation. This volume is aimed to students, researchers and medical doctors alike who want to find a simple but rigorous introduction on how gene networks control organ formation.<
Gene therapy offers many conceptual advantages to treat muscle diseases, especially various forms of muscular dystrophies; however, it faces a number of unique challenges, including the need to deliver a therapeutic vector to all muscles throughout the body. In Muscle Gene Therapy: Methods and Protocols, expert researchers in the field present a collection of techniques aimed at bridging the translational gap in muscle gene therapy between the prevalent rodent models and vitally important larger animal models. Divided into three sections, this volume examines basic protocols for optimizing the muscle gene expression cassette and for evaluating the therapeutic outcomes, new developments in muscle gene therapy technology such as adeno-associated viral vector (AAV), oligonucleotide-mediated exon-skipping, and novel RNA-based strategies, and step-by-step guidance on muscle gene delivery in swine, ovine, canine, and non-human primates. Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, detailed, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Muscle Gene Therapy: Methods and Protocols serves as an invaluable resource for graduate students, post-doctoral fellows, and principle investigators pursuing the crucial advancement of muscle disease gene therapy in the hope of someday curing these debilitating disorders.
A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in history
Almost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families.
Steven Lipkin and Jon Luoma posit that today’s genomics is like the last century’s nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes!
The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.
DNA methyltransferases are important enzymes in a broad range of organisms. Dysfunction of DNA methyltransferases in humans leads to many severe diseases, including cancer. This book focuses on the biochemical properties of these enzymes, describing their structures and mechanisms in bacteria, humans and other species, including plants, and also explains the biological processes of reading of DNA methylation and DNA demethylation. It covers many emerging aspects of the biological roles of DNA methylation functioning as an essential epigenetic mark and describes the role of DNA methylation in diseases. Moreover, the book explains modern technologies, like targeted rewriting of DNA methylation by designed DNA methyltransferases, as well as technological applications of DNA methyltransferases in DNA labelling. Finally, the book summarizes recent methods for the analysis of DNA methylation in human DNA. Overall, this book represents a comprehensive state-of-the-art- work and is a must-have for advanced researchers in the field of DNA methylation and epigenetics.