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Handbook of Intellectual and Developmental Disabilities
Changes within the interdisciplinary field of intellectual and developmental disabilities are evolving at a rapid pace. Clinicians, academics, administrators, and a variety of mental health providers alike need easy-to-access, reliable information that enables them to stay abreast of the numerous advances in research, assessment, treatment, and service delivery within a real-world sociopolitical framework. To that end, the Handbook of Intellectual and Developmental Disabilities is an essential resource for any professional who works with this vulnerable population. This volume examines in detail the numerous advances in the field, summarizing major domains and emerging subspecialties into one eminently useful reference.
Genome Editing : Gene Therapy or Gene Optimization?
Genome editing technology is considered one of the most revolutionary techniques lately. The ability of modifying the human genome has been one of the biggest dreams for therapist for the reason that the genetic modification with exogenous DNA can be considered a problem solver for many diseases and disorders (genetic disorders), especially those with high risks and low survival rates, on this case, gene therapy appears as the tool to be used, with its many protocols and approaches. Gene therapy is based on delivering a therapeutic gene throw suitable vectors, which is most of the time-modified viruses to carry the therapeutic genes to the target cells and so on providing the functional copy of the defective gene.
Clinical metabolomics applications in genetic diseases
Helps readers discover the forefront of personalized medicine on clinical metabolomics and its applications in genetic diseases. This comprehensive guide offers a functional relationship map between cell components and genetic variations in various diseases, providing insights that can be applied to personalized medicine. Covers the latest developments in metabolomics for health, with practical guidance for clinical experts looking to advance their laboratory techniques and career. The metabolomics profile is a powerful tool that has revolutionized our understanding of the relationship between genetics, clinical readouts, and disease outcomes. By integrating metabolomics with genomics and clinical phenotypes, the authors have developed diagnostic and prediction models that have vastly improved patient outcomes and deepened the understanding of disease mechanisms.
Atlas of genetic diagnosis and counseling
Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.
