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Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.

Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics

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Pathogenetics is a peer-reviewed, online open access journal, which features studies on the pathogenesis of genetic diseases, phenotypes and traits. Such studies may use molecular, biochemical, cellular, and physiological methods, as well as genome-wide approaches, to provide novel insights into the biological mechanisms underlying the phenotypic manifestations of genetic diseases.

Genetic Diseases, Inborn --- Genetic Diseases, X-Linked --- Genetic Predisposition to Disease --- Genetic disorders --- Medical genetics --- Maladies héréditaires --- Génétique médicale --- Periodicals --- Pathogenesis --- Susceptibility --- Périodiques --- Pathogenèse --- Prédisposition --- Genetic Diseases, Inborn. --- Genetic Diseases, X-Linked. --- Genetic Predisposition to Disease. --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Diseases, X-Chromosome Linked --- X-Linked Genetic Diseases --- Disease, X-Linked Genetic --- Diseases, X-Linked Genetic --- Genetic Disease, X-Linked --- Genetic Diseases, X Chromosome Linked --- Genetic Diseases, X Linked --- X Linked Genetic Diseases --- X-Linked Genetic Disease --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- genetics --- Genetic disorders. --- Medical genetics. --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Chromosomes, Human, X --- Genes, X-Linked --- Genetics, Medical --- Diseases --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic aspects

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Medical genetics --- Genetic Diseases, Inborn. --- Genetics, Medical. --- Medical genetics. --- Genetic Diseases, Inborn --- Genetics, Medical --- Clinical genetics --- Diseases --- Heredity of disease --- Human Genetics --- Medical Genetics --- Genetics, Human --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetic aspects --- molecular genetics --- cell biology --- stem cell biology --- gene regulation and epigenetics --- immunity and infection --- neuroscience --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine

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The reprint, "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies", provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.

Genetic disorders --- Rare diseases --- Treatment. --- Rare disorders --- Uncommon diseases --- Diseases --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics

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The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.

Medical genetics. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects