Treatment risk and response to therapy prediction can be forecasted through early diagnosis, which improves prognosis reliability and effectiveness of therapies. This book covers contemporary advances in molecular markers, disease-causing variants, retroelements, and the basis of distinct diseases.

This manual not only provides reliable, up-to-date protocols for lab use but also the theoretical background of molecular biology, allowing users to better understand the principles underlying these techniques. It covers a wide range of methods, including the purification of nucleic acids, enzymatic modification of DNA, isolation of specific DNA fragments, PCR, cloning techniques, and gene expression. A Springer Lab Manual

A thoroughly revised and updated collection readily reproducible techniques for culturing human cells. This new edition includes a wide range of human cell types relevant to human disease and new chapters on fibroblasts, Schwann cells, gastric and colonic epithelial cells, and parathyroid cells. The protocols follow the successful Methods in Molecular MedicineTM series format, each offering step-by-step laboratory instructions, an introduction outlining the principle behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting and avoiding known pitfalls.

Since the cloning of the cystic fibrosis transmembrane conductance re- lator (CFTR) nearly a decade ago, cystic fibrosis (CF) research has witnessed a dramatic expansion into new scientific areas. Basic researchers, clinicians, and patients increasingly rely on fundamental techniques of genetics, molecular biology, electrophysiology, biochemistry, cell biology, microbiology, and immunology to understand the molecular basis of this complex disease. Research into the pathophysiology of CF has established numerous paradigms of ion channel dysfunction that extend from inflammation and infection in the airways of patients to basic mechanisms of protein processing and regulation in intracellular components. With these rapid advances has come an increasing need for research scientists to understand and utilize a growing array of basic laboratory tools. This volume of Methods in Molecular Medicine, Cystic Fibrosis Methods and Protocols satisfies that need by providing detailed protocols for the laboratory techniques used throughout CF research. From electrophysiology and cell biology, to animal models and gene therapy, the comprehensive set of methods covered here provide step-by-step instructions needed for investigators to incorporate new approaches into their research programs. Contributions have been chosen to reflect the rich diversity of techniques and to provide a cohesive framework for understanding challenges that are currently at the forefront of CF research. It is hoped that this volume will serve as a valuable reference that will not only foster interdisciplinary investigations into current problems encountered in CF, but also facilitate the translation of new scientific discoveries into clinical solutions.

The era of molecular pathology has arrived. From its promising beg- nings in research laboratories, the field has grown, and continues to grow, to become a vital part of the care of an ever-increasing number of patients. Because of its recent emergence from the research taboratory, many molecuIar pathology protocols we still to be found in the primary litcramre, and have not appeared in a text. MO~PCU~Q~ Padhoiogy Protocob contains la- ratory protocoIs that have been developed by many of the authors for use in clinical molecular pathology laboratories and describe in detail Row to perform these assays. This book is therefore intended for clinical laboratory use by medical technologists and pathologists. It will dso be of interest to research workers who are performing these assays. In its broadest meaning, pathology is the study of disease, and therefore it follows that any disease for which the molecular basis is understood would be suitable as a topic for inclusion in this work. When seiecting protocols, it was necessary to place limits on the number of chapters that could be feasibly presented in a single work. Those protoculs that were selected are performed more frequently, or have achieved recognition as having important diagnostic utility in contemporary practice. A decision was made to exclude inherited genetic diseases with certain exceptions, such as those diseases that are associated with thrombotic states and are part of the traditional dumain of pathology.

The aim of Hematologic Malignancies: Methods and Techniques is to review those methods most useful for the diagnosis and subsequent mana- ment of hematologic malignancies. The scope of coverage is intentionally broad, ranging from routine procedures to highly sophisticated methods not currently offered by most clinical laboratories. The latter methods were selected especially to bring into focus recent advances in molecular biology that, since they provide us with strong tools for assessing the outcome of upcoming therapeutic modalities intent on disease eradication, are expected to impact the future diagnosis and management of these diseases. Thus, the c- mon thread among all chapters is clinical relevance, whether sanctioned by past experience or by the expectation that seemingly esoteric research techniques of today will prove clinically valuable in the future. Hematologic Malignancies: Methods and Techniques is primarily a compilation of methods presented in sufficient detail—by authors with extensive expertise in their field—to serve not only as a reference for seasoned research and clinical laboratory pers- nel, but also as a guide for the less experienced. Moreover, the contributing authors also discuss the pathophysiologic bases and the diagnostic usefulness that underscore each method’s clinical relevance. Thus, this volume should be also valuable to clinicians—especially hematologists, oncologists, and path- ogists—often bewildered by an ever increasing flow of new scientific inf- mation, the practical application of which is often either not clearly disclosed or difficult to discern.

Current techniques for studying biological macromolecules and their interactions are based on the application of physical methods, ranging from classical thermodynamics to more recently developed techniques for the detection and manipulation of single molecules. Reflecting the advances made in biophysics research over the past decade, and now including a new section on medical imaging, this new edition describes the physical methods used in modern biology. All key techniques are covered, including mass spectrometry, hydrodynamics, microscopy and imaging, diffraction and spectroscopy, electron microscopy, molecular dynamics simulations and nuclear magnetic resonance. Each method is explained in detail using examples of real-world applications. Short asides are provided throughout to ensure that explanations are accessible to life scientists, physicists and those with medical backgrounds. The book remains an unparalleled and comprehensive resource for graduate students of biophysics and medical physics in science and medical schools, as well as for research scientists looking for an introduction to techniques from across this interdisciplinary field.

Alzheimer's disease is the most common cause of senile dementia. Since the discovery in 1984 of the amyloid ?-peptide (A?) as the core protein of the senile plaques present in the brains of Alzheimer's disease sufferers, an immense amount of research has gone into mapping out the molecular basis of this debilitating disease. The aim of Alzheimer's Disease: Methods and Protocols is to bring together the main biochemical, cell biological, and molecular biological techniques and approaches that are being used to investigate the molecular basis of Alzheimer's disease. This volume begins with chapters of an introductory/ review nature. Chapter 1 provides a historical introduction to Alzheimer's d- ease with particular emphasis on the central role played by A? and its re- tion to tau. Chapter 2 examines the genetics underlying this neurodegenerative disease, covering the amyloid precursor protein, apolipoprotein E, and the presenilins. Chapter 3 presents an overview of currently available therapeutic agents and prospects for drugs of the future.

Clinical Molecular Medicine: Principles and Practice presents the latest scientific advances in molecular and cellular biology, including the development of new and effective drug and biological therapies and diagnostic methods. The book provides medical and biomedical students and researchers with a clear and clinically relevant understanding on the molecular basis of human disease. With an increased focus on new practice concepts, such as stratified, personalized and precision medicine, this book is a valuable and much-needed resource that unites the core principles of molecular biology with the latest and most promising genomic advances. Illustrates the fundamental principles and therapeutic applications of molecular and cellular biology Offers a clinically focused account of molecular heterogeneity Includes comprehensive coverage of many different disorders, including growth and development, cardiovascular, metabolic, skin, blood, digestive, inflammatory, neuropsychiatric disorders, and many more

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.