Medical genetics Books

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Book SynopsisDeoxyribonucleic acid (DNA) is a chemical found primarily in the nucleus of cells. DNA is a long, spiralling molecule that orchestrates the cell''s daily operations and provides the genetic blueprint for the physical characteristics of all living organisms. It is the molecule that encodes genetic information in the nucleus of cells. It determines the structure, function and behaviour of the cell. DNA is made up of two complementary strands, the strands intertwine like a spiral staircase to form a structure called a double helix. Subunits, called bases, are the rungs of the staircase. The four nucleotides in DNA contain the bases: adenine (A), guanine (G), cytosine (C), and thymine (T). This new book presents leading-edge research in this dynamic field.

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Book SynopsisMutation refers to any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases. This book gathers together and presents the latest research in this field.

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Book SynopsisCollectively, genetic diseases and common diseases with a genetic component pose a significant public health burden. With completion of the human genome sequence, scientists will now focus on understanding the clinical implications of the sequence information. Clinical genetic tests are becoming available at a rapid rate. Testing is regulated by the federal government and tests are beginning to be included in health insurance benefits packages. Issues surrounding genetic testing and non-discrimination addressed in this book include: What is health information and how is it currently used by health insurers and employers?; What is genetic information?; Is genetic information different from other health information?; What are the implications of having genetic information: for the individual undergoing testing? for his/her family? for society?; What evidence exists to suggest that discrimination is a problem?; Will the proposed legislation have been sufficient to protect "genetic information" and "genetic tests" that are of concern?; How does the proposed legislation compare with existing laws and regulations governing discrimination?

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Book SynopsisGene silencing is a general term describing epigenetic processes of gene regulation. The term gene silencing is generally used to describe the ''switching off'' of a gene by a mechanism other than genetic mutation. That is, a gene which would be expressed (turned on) under normal circumstances, is switched off by machinery in the cell. Genes are regulated at either the transcriptional or post-transcriptional level. Transcriptional gene silencing is the result of histone modifications, creating an environment of heterochromatin around a gene that makes it inaccessible to transcriptional machinery (RNA polymerase, transcription factors, etc.). Post-transcriptional gene silencing is the result of mRNA of a particular gene being destroyed. The destruction of the mRNA prevents translation to form an active gene product (in most cases, a protein). A common mechanism of post-transcriptional gene silencing is RNAi. Both transcriptional and post-transcriptional gene silencing are used to regulate endogenous genes. This book presents the latest research in this important field.

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Book SynopsisThe genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension in biological and biomedical research. Interwoven advances in genetics, comparative genomics, high throughput biochemistry and bioinformatics are combining to attack basic understanding of human life and disease and to develop strategies to combat disease. Genomic Research began with The Human Genome Project (HGP), the international research effort that determined the DNA sequence of the entire human genome, completed in April 2003. The HGP also included efforts to characterise and sequence the entire genomes of several other organisms, many of which are used extensively in biological research. Identification of the sequence or function of genes in a model organism is an important approach to finding and elucidating the function of human genes. Integral to the HGP are similar efforts to understand the genomes of various organisms commonly used in biomedical research, such as mice, fruit flies and roundworms. Such organisms are called "model organisms," because they can often serve as research models for how the human organism behaves. This book brings together leading research from throughout the world in this cutting-edge field.

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Book SynopsisThis book presents a comprehensive review of the morphology and function of chromosomes in elderly people. The wide range of topics includes cyclical chromosome properties, mutations, repair, progressive chromosome heterochromatinisation with increasing age, roles of nucleolar organiser regions, sister chromatid exchanges, homologue relationships, heterochromatin regions and other chromosomal features in very old age. This ground-breaking book focuses on heterochromatinisation as a key determinant of the genetic apparatus function during senescence and an area to seek life-prolonging interventions. The book illustrates and updates progress in the field of cytogenetics of ageing.

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Book SynopsisGene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including: Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed; Preimplantation genetic diagnosis prenatal diagnostic testing new-born screening; Presymptomatic testing for predicting adult-onset disorders such as Huntington''s disease; Presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer''s disease; Confirmational diagnosis of a symptomatic individual forensic/identity testing. In gene tests, scientists scan a patient''s DNA sample for mutated sequences. A DNA sample can be obtained from any tissue, including blood. For some types of gene tests, researchers design short pieces of DNA called probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual''s genome. If the mutated sequence is present in the patient''s genome, the probe will bind to it and flag the mutation. Another type of DNA testing involves comparing the sequence of DNA bases in a patient''s gene to a normal version of the gene. This book gathers important research in this field.

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Book SynopsisMedical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down''s syndrome.

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Book SynopsisDeoxyribonucleic acid (DNA) is a chemical found primarily in the nucleus of cells. DNA is a long, spiralling molecule that orchestrates the cell''s daily operations and provides the genetic blueprint for the physical characteristics of all living organisms. It is the molecule that encodes genetic information in the nucleus of cells. It determines the structure, function and behaviour of the cell. DNA is made up of two complementary strands, the strands intertwine like a spiral staircase to form a structure called a double helix. Subunits, called bases, are the rungs of the staircase. The four nucleotides in DNA contain the bases: adenine (A), guanine (G), cytosine (C), and thymine (T). This volume presents the latest research from around the world.

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Book SynopsisSeveral years have passed since the sequencing of the human genome and what might be called "the post-genomic era" has begun. Of course, there are many different genomes and the term "post-genomic" does not necessarily imply the human genome. However, it is the data encoded in the human genome that hold the promise to be of practical importance in a wide range of biomedical applications. The sequencing and preliminary annotations of the human genome provided an incredible amount of the raw, largely unprocessed information. Coupled with the millions of publications on human physiology already available in public databases, it is clear that certain informational strategies should be adopted for the retrieval, analysis and representation of these data. Among biological sciences, bioinformatics is a specific branch that deals with managing complexities in the biological information. However, the bioinformatics is in no way restricted to the compilation of large databases or elaboration of sophisticated software. The methods of bioinformatics can greatly assist the generation of productive hypotheses that allow subsequent experimental testing followed by confirmation or disapproval. The main idea behind the present volume is not worrying about the steadily growing amounts of biomedical information or about the relative quality of it. This volume, as well as the entire book series, is based on the purpose-oriented attitude: how to make a good use of this information in particular research projects.

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Book SynopsisGenetic vectors are plasmids, bacteriophages, or viruses used during recombinant DNA techniques that transport foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain a genetic marker to facilitate their selective recognition. This book presents new and important research from around the globe

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Book SynopsisGenes, which are carried on chromosomes, are the basic physical and functional units of heredity. Genes are specific sequences of bases that encode instructions on how to make proteins. Although genes get a lot of attention, it''s the proteins that perform most life functions and even make up the majority of cellular structures. When genes are altered so that the encoded proteins are unable to carry out their normal functions, genetic disorders can result. Gene therapy is an experimental treatment that involves introducing genetic material into a person''s cells to fight disease. Gene therapy is being studied in clinical trials for many different types of cancer and for numerous other diseases. This book offers important research from around the globe dedicated to this dynamic subject.

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Book SynopsisGenetic inheritance patterns deal with the different ways genes and their alleles interact during the transmission of genetic traits that effect the outcome of gene expression. This book presents new and important research in the field from around the world.

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Book SynopsisChromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic conditions in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, aneuploidy, may be lethal or give rise to genetic disorders. Genetic counseling is offered for families that may carry a chromosome rearrangement. This book offers leading-edge research from around the world.

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Book SynopsisThis book offers a collection of articles on binomial chitin/chitinase from authors who have all personally contributed to the development and increased acknowledgement of this topic. The book will represents a milestone for future researchers by taking into account the known archaic function of chitinases and the new description of chitin and chitinases roles in innate immunity. This recently discovered role has likely been vital in the process of genetic selection.

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Book SynopsisTreatment is the heart of medicine. For patients, the main aim of visiting a physician is to get the best therapy. Therapy has a long history. Advanced biotechnology helps improve medical treatment. Apart from the classical treatments, there are many new emerging means of medical treatment. In this book, the concept of new therapeutic channels, cell, gene and molecular concepts is developed. Interesting details on concepts for these modern therapies can be found in this book and this book.

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Book Synopsis"Advances in Genetics Research" presents original research results on the leading edge of genetics research. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum.

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Book SynopsisDevelopmental Gene Expression Regulation consists of any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism. This book presents the latest research in this field from around the world.

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Book SynopsisHuman Myoblast Genome Therapy (HMGT) is a platform technology of cell transplantation, nuclear transfer, and tissue engineering. Myoblasts are differentiated, immature cells destined to become muscles. Myoblasts cultured from muscle biopsy survive, develop and function to revitalise degenerative muscles upon transplantation. Transplant injury activates regeneration of host myofibers that fuse with the injected myoblasts, sharing their nuclei in a common gene pool of the syncytium. Thus, through nuclear transfer and complementation, human genome can be transferred into muscles of genetically-ill patients to achieve phenotype repair. Myoblasts are safe and efficient universal gene transfer vehicles endogenous to muscles that constitute 50% of the body. Myoblasts fuse among themselves to form new myofibres. Patients take only 2-month cyclosporine to immunosuppress allograft rejection because myofibres do not express MHC-1 antigens. The first correction of human gene defect was published in the Lancet on July 14, 1990 when the therapeutic protein dystrophin was found in the myoblast-injected muscle of a Duchenne muscular dystrophy (DMD) patient. Results over 280 HMGT procedures on MD subjects in the past 15 years demonstrated absolute safety. Myoblast-injected DMD muscles showed improved histology. Strength increase at 18 months post-operatively averaged 123%. FDA-approved clinical trials progressed unto Phase III in USA with direct cost recovery. Heart muscle degeneration is the leading cause of human debilitation and death.

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Book SynopsisThis book looks at genetic screening of new-borns and the ethical principles that guide this practice. The majority of babies born in the U.S. each year undergo screening soon after birth to identify genetic defects that could cause serious illness if left undetected and untreated. The goal is to detect diseases as early as possible so that timely, effective treatment can be initiated even before the onset of symptoms. In most states, new-born screening is now mandated by law. Of the approximately four million babies screened each year, about 5,000 are identified as having serious heritable disorders, most of which are, in varying degrees, amenable to treatment. For more than 40 years, the moral focus of new-born screening has been what is good for the infant. However, as more and more disorders have been added to state new-born screening programs, the traditional ethical principles of screening have been called into question. This aim of this study is to foster public awareness of the practice of new-born screening, the ethical principles that have guided it until now, and the ethical problems posed by its current and future expansion. This book consists of public documents which have been located, gathered, combined, reformatted, and enhanced with a subject index, selectively edited and bound to provide easy access.

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Book Synopsis"Advances in Genetics Research" presents original research results on the leading edge of genetics research. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum.

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Book SynopsisGenome stability of every species depends on complex interaction of predefined and environmentally induced genetic and epigenetic states. Predefined states consist of chromatin structure and cell metabolic processes such as DNA repair, radical scavenging and cell signalling, whereas induced states depend on interactions with the environment. Organisms are able to respond to a changing environment by various alterations in their somatic cells as well as in their germline and progeny. In this book, we will describe various phenomena associated with the maintenance of genome stability. These include genetic and epigenetic responses to various stresses in exposed cells and organisms, bystander and, bystander-like effects, transgenerational changes in genome stability and stress tolerance in bacteria, plants and animals.

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Book SynopsisThis book presents original research results on the leading edge of DNA research. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum.

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Book Synopsis"Advances in Genetics Research" presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as the assessment and testing by genoproteomics and therapeutic planning of hereditary ovarian cancer; the examination of gene flow in five major taxa at Evolution Canyon, Israel; functional analysis of the entomopathogenic nematode parasitism; genome structure and genomic stability; the role of CCDC26 in human acute myeloid leukaemia; and missense mutations and genetic testing.

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Book SynopsisAdvances in Genetics Research presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as the genetic drift in recent human evolution; delayed stochastic models of genetic switches; lactase phenotypes and relationships to diseases; the changing face of genetic counseling in the 21st century; RNAi-mediated RNA degradation in longevity enhancement; gene study involved in hyperactive syndromes and anxiety and genetics research in colorectal cancer.

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Book Synopsis"Advances in Genetics Research" presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as: genetic and biochemical markers of serotonergic and catecholaminergic systems in neuropsychiatric disorders; methodological aspects of gene flow estimation in natural populations; genetic structuring across the reef crest in the threatened blue coral heliopora; an overview of genetic factors and environmental triggers in the pathogenesis of Tourette''s Syndrome; genetics and molecular biology of kainate receptors; and others.

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Book SynopsisMolecular biology is a merger between biochemistry and genetics that undertakes the study of the molecular fundamentals of metabolism of the genetic material (ie: replication, the transcription and translation and its manipulation for the benefit of life). Molecular biology is the molecular three-dimensional structural studying approach of biology as reflected on genesis and function to search below the large-scale manifestations of classical biology. The recent merge of molecular biology and computer science developed bioinformatics and computational biology. The study of gene structure and function, i.e., molecular genetics, is amongst the most prominent sub-field of molecular biology. This book highlights the rationale behind most of the related diseases afflicting the nuclear and the mitochondrial genetic systems for specific prevention and/or intervention.

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Book SynopsisThis book compiles biographical sketches of top professionals in the field of genetics research, as well as research summaries from a number of different focuses in this important field.

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Book SynopsisAdvances in Genetics Research presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as a prioritised panel of candidate genes to be explored for associations with the blood pressure response to exercise; caspase-8 roles in cancer and development; self-fertility in Scots pine as system for regulation of closely relationships and the species survival in adverse environment; and reproductive performances of Holsteins under tropical conditions.

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Book SynopsisDown syndrome (Trisomy 21), is characterised by the presence of an extra chromosome 21, and is the most common chromosomal abnormality. Clinical symptoms of Down syndrome (DS) often include orthopaedic, cardiovascular, neurological, cognitive, perceptual and motor impairments. In this book, the authors present current research from across the globe on Down syndrome. Topics discussed in this compilation include the effects of regular versus special school placement of students with Down syndrome; the clinical association between disorders of the ENS and Down syndrome; the impact of environmental risk factors on maternal meiotic errors; genomic implications of gene dosage imbalance in autosomal trisomy during neural development; parenting stress in families with Down syndrome children; using technology in the evaluation of Down syndrome children''s social-cognitive skills; and atypical postural behaviours in individuals with DS.

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Book SynopsisAneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. Aneuploidy occurs during cell division when the chromosomes do not separate properly between the two cells. Chromosome abnormalities occur in 1 of 160 live births. In this book, the authors present topical research in the study of the etiology, disorders and risk factors of aneuploidy, including the role of environmental pollutants as a mechanism of aneuploidy; ploidy in mitosis and meiosis; the spindle assembly checkpoint and aneuploidy; cohesions, genomic stability and cancer and aneuploidy in cultured human multipotent mesenchymal stromal cells.

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Book Synopsis"Advances in Genetics Research" presents original research results on the leading edge of genetics discovery. Each article has been carefully selected in an attempt to present substantial research results across a broad spectrum. In this continuing series compilation, the authors present and discuss varied topical data such as genetic modification of stem cells in ex vivo gene therapy; viral RNA polymerases; polymerase chain reactions; genetic modification to improve the therapeutic potential of oncolytic clostridia and cloning of the B2-microglobulin from sea bass.

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Book SynopsisThis book is a continuation of the book Genetics Researcher Biographical Sketches and Research Summaries which compiles biographical sketches of top professionals in the field of genetics research, as well as research summaries from a number of different focuses in this important field.

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