By (author): J.M.C. Connell, A.F. Dominiczak, F Soubrier
Molecular Genetics of Hypertension is one of the first books to consolidate the current knowledge of this expanding research area. The book considers the study and applications of molecular genetic approaches to this important disease, providing a comprehMolecular Genetics of Hypertension is one of the first books to consolidate the current knowledge of this expanding research area.
In this book, twenty-one researchers and clinicians review the study of the genetics of male infertility, the tools available in the laboratory and clinic, the current state of knowledge, and the future of research and translation into clinical diagnostics and treatments.
New tools discussed are discussed. This book therefore serves as a guide to evidence-based clinical applications, and a preview of future possibilities.
This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.
The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future.
A complete review of the issues with specific recommendations and guidelines.
With over 1,000 tests commercially available, genetic testing is revolutionizing medicine. Health care professionals diagnosing and treating patients today must consider genetic factors, the risks and limitations of genetic testing, and the relevant law. Genetic Testing: Care, Consent, and Liability offers the only complete, practical treatment of the genetic, clinical, ethical, and legal issue surrounding genetic testing. The authors present protocols, policies, and models of care that are currently in use, and explain the legal framework for genetic testing and counseling that has developed in North America, particularly with regard to the law of medical malpractice.
This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. Davis, JonBeckwith, Lisa Geller, Mark A. Hall, Andrew R. MacRae, David Chitayat, Roxanne Mykitiuk, Stephanie Turnham, Mireille Lacroix, Jinger G, Hoop, Edwin H, Cook, Jr., S. H. Dinwiddie, Elliot S. Gershon, C. Anthony Rupar, Lynn Holt, Bruce R. Korf, Anne Summers, S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, Erik C. Thorland, Timothy Caulfield, Lorraine Sheremeta, Richard Gold, Jon F. Merz, David Castle, Peter J. Bridge, JS Parboosingh, Patricia T. Kelly, Julianne M. O’Daniel, Allyn McConkie-Rosell, Beatrice Godard, Bartha Maria Knoppers, David Weisbrot.
The coverage also includes: * Genetic screening, including prenatal, neonatal, carrier, and susceptibility testing * Diagnosis, risk assessment, confidentiality, and clinical/legal issues related to follow-up * Interpreting test results and communicating them to patients * psychological considerations * Informed consent * Family history evaluations * Referral to medical geneticists and genetic counselors
Genetic Testing Care, Consent, and Liability is a must-have resource for clinical geneticists, genetic counselors, specialists, family physicians, nurses, public health professionals, and medical students.
This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics.
J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes.
There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.
This volume provides current methods and protocols for gene and protein delivery based on both lentivirus-generated and spontaneously released nanovesicles. Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools guides readers through methods on macromolecule delivery and chapters describe the LV-based protocols of gene engineering. 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, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.
Authoritative and cutting-edge, Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools aims to ensure successful results in the further study of this vital field.
By (author): Alan E. H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder.
Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease’s pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.
Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
Genetic testing and counseling for cancer have made great strides in recent years. The popular demand for advanced screening, advances in testing, and the response of insurance companies and corporations have all served to shape this important area of cancer risk management.
This practical, user-friendly guidebook allows you to search by disease site for the hereditary cancer syndromes relevant to your patient’s cancer. This handy resource will help you formulate questions when expanding that patient’s personal and family history, identify the genes that are most relevant, determine whether to refer that patient for genetic counseling and testing, and guide the patient’s long-term management based on the patient’s mutation-positive or –negative status. The guidebook will be of equal value to the practicing oncologist, surgeon, urologist, endocrinologist, gynecologist, primary care physician, physician’s assistant, advanced practice nurse, and any other clinician counseling a patient who has had cancer.
Look inside and discover…
• Informative overview summarizes the history and current state of genetic cancer testing.
• Site-specific chapters help you locate essential facts quickly.
• Expert contributors share their years of experience in genetic testing and counseling.
• Timely insights address key medical, ethical, legal, and financial implications of genetic cancer testing.
Be sure your patients have the advance information they need…
This textbook aims to describe the fascinating area of eukaryotic gene regulation for graduate students in all areas of the biomedical sciences. Gene expression is essential in shaping the various phenotypes of cells and tissues and as such, regulation of gene expression is a fundamental aspect of nearly all processes in physiology, both in healthy and in diseased states. This pivotal role for the regulation of gene expression makes this textbook essential reading for students of all the biomedical sciences, in order to be better prepared for their specialized disciplines.
A complete understanding of transcription factors and the processes that alter their activity is a major goal of modern life science research. The availability of the whole human genome sequence (and that of other eukaryotic genomes) and the consequent development of next-generation sequencing technologies have significantly changed nearly all areas of the biological sciences. For example, the genome-wide location of histone modifications and transcription factor binding sites, such as provided by the ENCODE consortium, has greatly improved our understanding of gene regulation. Therefore, the focus of this book is the description of the post-genome understanding of gene regulation.
The purpose of this book is to provide, in a condensed form, an overview on the present understanding of the mechanisms of gene regulation. The authors are not aiming to compete with comprehensive treatises, but rather focus on the essentials. Therefore, the authors have favored a high figure-to-text ratio following the rule stating that “a picture tells more than thousand words”.
The content of the book is based on the lecture course, which is given by Prof. Carlberg since 2001 at the University of Eastern Finland in Kuopio. The book is subdivided into 4 sections and 13 chapters. Following the Introduction there are three sections, which take a view on gene regulation from the perspective of transcription factors, chromatin and non-coding RNA, respectively. Besides its value as a textbook, Mechanisms of Gene Regulation will be a useful reference for individuals working in biomedical laboratories.