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Genomics of Rare Diseases
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and p...
Molecular Genetic Pathology
Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharma...
Long-Range Control of Gene Expression
Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer
Women, Business and the Law 2018
How can governments ensure that women have the same employment and entrepreneurship opportunities as men? One important step is to level the legal playing field so that the rules for operating in the worlds of work and business apply equally regardless of gender. Women, Business and the Law 2018, the fifth edition in a series, examines laws affecting women’s economic inclusion in 189 economies worldwide. It tracks progress that has been made over the past two years while identifying opportunities for reform to ensure economic empowerment for all. The report updates all indicators as of June 1, 2017 and explores new areas of research, including financial inclusion.
Principles and Practice of Movement Disorders E-Book
Principles and Practice of Movement Disorders provides the complete, expert guidance you need to diagnose and manage these challenging conditions. Drs. Stanley Fahn, Joseph Jankovic and Mark Hallett explore all facets of these disorders, including the latest rating scales for clinical research, neurochemistry, clinical pharmacology, genetics, clinical trials, and experimental therapeutics. This edition features many new full-color images, additional coverage of pediatric disorders, updated Parkinson information, and many other valuable updates. An accompanying Expert Consult website makes the content fully searchable and contains several hundred video clips that illustrate the manifestations...
The Zapatista Movement and Mexico's Democratic Transition
Transitions from authoritarian to democratic governments can provide ripe scenarios for the emergence of new, insurgent political actors and causes. During peaceful transitions, such movements may become influential political players and gain representation for previously neglected interests and sectors of the population. But for this to happen, insurgent social movements need opportunities for mobilization, success, and survival. This book looks at Mexico's Zapatista movement, and why the movement was able to mobilize sympathy and support for the indigenous agenda inside and outside of the country, yet failed to achieve their goals vis-à-vis the Mexican state.
Clinical Genomics
Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. - Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm - Tried and tested practice-based analysis for precision diagnosis and treatment plans - Specific pipelines and meta-analysis for full range of clinically important variants
Clinical Genome Sequencing
Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.
