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Providing specific guidance for people with muscular dystrophy and their families, this accessible work answers many questions asked about how and why it occurs, and its affect on the life of a recently diagnosed child.

Muscular dystrophy --- Internal medicine. --- Medicine, Internal --- Medicine --- Muscular dystrophies --- Dystrophy --- Genetic disorders --- Neuromuscular diseases

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This title explains clearly what is happening to the body in cystic fibrosis, what causes it and what treatment options are available for the different aspects of the disease. It also looks to the future in terms of potential new therapies and provides useful information on organisations that can provide help.

Cystic fibrosis --- CF (Disease) --- Fibrocystic disease of pancreas --- Mucoviscidosis --- Pancreatic cystic fibrosis --- Fibrosis --- Genetic disorders --- Lungs --- Pancreas --- Diseases

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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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Written by a leader in the field of genomics, this text discusses genomics-based advances in disease susceptibility, diagnosis, prognostication, and prediction of treatment outcomes. A wide range of clinical areas and the applications now afforded by genomic analysis are discussed.

Medical genetics. --- Genomics. --- Genome research --- Genomes --- Molecular genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Research --- Genetic aspects --- Clinical Medicine. --- Genetic Predisposition to Disease. --- Pharmacogenetics.

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This SpringerBrief explores unconventional functions of eight different transcription factors and concludes with a discussion of their biological significance and impact, including effects on processes within the cell nucleaus during development and in adult organisms. Chapter One details unconventional functions of the transcription factors GAGA, HP1, Rb, STAT, ATF-2 and NF-kB. Surprisingly, all of these transcription factors can be found in association with heterochromatin as well as euchromatin, and in some cases unconventional functions have been demonstrated for these heterochromatin-associated factors. Chapter Two focuses on the unconventional functions of STAT and HP1 and discusses their roles in the promotion of longevity, and in protection from cancer and DNA damage. Chapter Three explores the biological significance of the findings presented in the first two chapters and considers how global changes in the epigenome brought about by factors such as STAT and HP1 might affect processes within the cell nucleus during development and in adult organisms. This succinct yet thorough SpringerBrief is essential for researchers studying epigenetics, and to instructors of the subject. It should also appeal to people interested in the control of gene transcription and other processes in the cell nucleus, and to those interested in development.

Cytology. --- Physiology. --- Medical genetics. --- Cell Biology. --- Medical Genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Animal physiology --- Animals --- Biology --- Anatomy --- Cell biology --- Cellular biology --- Cells --- Genetic aspects --- Physiology --- Transcription factors. --- Genetic transcription factors --- Proteins