Medical genetics Books

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 SynopsisThis book presents and discusses current research in the field of genetics. Topics discussed include gene regulation and early developmental gene expression in vertebrates; developmental regulation of sensory receptor gene expression; gene silencing; effective methods for selecting siRNA sequences; genome-wide identification and analysis of miRNAs; genetic diversity; genetic variability in the fescue-ryegrass complex and genetic and functional diversity of phosphate solubilising.

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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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Book SynopsisIn this book, the authors present new research in the study of sex chromosomes. Topics discussed in this compilation include the evolution of mammalian X chromosomes and X chromosome inactivation; the role of sex chromosomes in mammalian female fertility; the fate of the Y chromosome; the role of Y chromosome genes on tumour development risk in disgenetic gonads; deletion of amelogenin Y-locus; non-invasive prenatal diagnosis for foetal sex determination; and application of X chromosomal STR polymorphisms to individual identification.

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Book SynopsisEnzymes are necessary for nearly all of life''s chemical reactions. With the advance of biotechnology, increasing numbers of enzymes are identified and over-produced prior to application in various industries that encompass medicine, agro-industry, commodity products sectors, and biofuel biotechnologies. Many enzymes currently are derived from recombinant micro-organisms. Enzyme manufacturers take advantage of new genetic techniques to develop and manufacture enzymes with improved properties. Such enzymes often originate from micro-organisms that cannot be readily cultured under laboratory or industrial conditions. By judicious selection of host micro-organisms, recombinant production strains can be constructed to allow efficient production of enzymes that are substantially free of undesirable enzymes or other microbial metabolites. The developments in molecular genetics and cell biology in the last four decades have reshaped enzyme production. This book provides comprehensive material on applications of important microbes and their gene functions in enzyme technology for audiences across many disciplines.

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Book SynopsisEmotion is among the most relevant factors of human life, and it exerts a deep influence on all aspects of our lives and behaviour. However, little is known about emotional processing or regulation and experience of emotions under an atypical human condition like Down syndrome (DS). This book represents an initial effort to integrate the most important findings regarding the study of emotion on DS from a cognitive point of view. The first part of this book is focused on general aspects of DS. Mainly, the human nature of persons with Down syndrome is highlighted beyond the intellectual disability that is associated to this genetic condition. Furthermore, the second part of the book, thoroughly describes specific details of cognitive-emotional mechanisms underlying the affective life of DS. Moreover, it is emphasised how neuro-architecture aspects related to DS condition typify the emotional human nature of this population. The third part of the book is concerned with cognitive research advances in the study of emotion and DS. Specifically, findings related to emotion face recognition as well as appraisal processes underlying love judgements on DS are discussed from an experimental approach. Finally, future implications and directions on emotion research on Down syndrome are presented.

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Book SynopsisAn oncogene is a modified gene, or a series of nucleotides that encode a protein, and direct the cell to the development of a neoplastic phenotype. Usually, oncogenes are involved in tumour development and increase the possibility that the development of a cell directs towards cancer. In this book, the authors present current research in the study of the classification, mechanisms of activation and role in cancer development of oncogenes. Topics include the role of oncogenes in gynaecological pathology; oncomirs as the next frontier of oncogenes affecting cancer aetiology and tumour progression; the role of the epidermal growth factor receptor as a therapeutic target in glioblastoma and other malignancies; and tumour suppressers involved in DNA repair and carcinoprevention.

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Book SynopsisHow a journey of self-discovery unearthed the scandalous evolution of artificial insemination. By his forties, Peter J. Boni was an accomplished CEO, with a specialty in navigating high-tech companies out of hot water. Just before his fiftieth birthday, Peter’s seventy-five-year-old mother unveiled a bombshell: His deceased father was not biological. Peter was conceived in 1945 via an anonymous sperm donor. The emotional upheaval upon learning that he was “misattributed” rekindled traumas long past and fueled his relentless research to find his genealogy. Over two decades, he gained an encyclopedic knowledge of the scientific, legal, and sociological history of reproductive technology as well as its practices, advances, and consequences. Through twenty-first century DNA analysis, Peter finally quenched his thirst for his origin. In Uprooted, Peter J. Boni intimately shares his personal odyssey and acquired expertise to spotlight the free market methods of gamete distribution that conceives dozens, sometimes hundreds, of unknowing half-siblings from a single donor. This thought-provoking book reveals the inner workings—and secrets—of the multibillion-dollar fertility industry, resulting in a richly detailed account of an ethical aspect of reproductive science that, until now, has not been so thoroughly explored.

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Book SynopsisAlternative splicing occurs in most human genes and contributes to protein diversity by producing multiple mRNAs from each gene. In this book, the authors present new developments in alternative splicing research. Topics discussed include alternative splicing alterations in Alzheimer''s disease; plant RNA-binding proteins implicate mRNA processing in abscisic acid (ABA) responses; comprehensive analyses of alternative exons in neuronally differentiated P19 cells; an epigenetic view on alternative splicing; identification of genuine alternative splicing variants for rare or long-sized transcripts; alternative RNA splicing and regulation of nitric oxide signalling; alternative splicing by analysing human mRNA diversity using data of FLJ human cDNAs; alternative splicing in human immune systems and auto-immune diseases; and poly (ADP-Ribosyl)ation regulation in alternative splicing.

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Book SynopsisViral diseases have an important impact on public health world-wide. New genomic technologies are providing infectious disease scientists with a unique ability to study at the genetic level those viruses that cause disease and the interactions they have with infected hosts. In this book, the authors present new research in viral genomes. Topics include improvements in HSV-1 derived amplicon vectors for gene transfer; viral genome research in papillomavirus; the synthetic synthesis of viral genomes; and a novel bioinformatic method to analyse over 10,000 influenza virus strains simultaneously.

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Book SynopsisAutosomal dominant inheritance means an abnormal gene from one parent can cause disease, even though the matching gene from the other parent is normal. The abnormal gene dominates. In this book, the authors present new research in autosomal dominant disorders. Topics discussed include the pathophysiology and treatment of autosomal polycystic kidney disease; hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber Syndrome; osteogenesis imperfecta; and autosomal dominant disorders associated with breast cancer.

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Book SynopsisThe sequencing of the human genome was a pivotal event in science that opened the door to exploring the structure and function of genes and their regulation. The activation or suppression of transcribed genes is critical to the orchestration of everyday biological processes at the cellular, tissue, and physiological levels. The rapid advance of science and technology has yielded the development of the microarray technique, which has propelled a much deeper understanding of the genome. By combining these technological advances in microarrays with statistical and bioinformatics software, investigators are now able to perform scientific investigations geared towards answering unique biological problems that encompass many fields of research from genetics and evolution to molecular medicine, health, and disease. This book provides an overview of the use and application of microarrays throughout the life sciences to address diverse complex biological questions. In this collection, authors present information on using microarrays to unlock molecular mechanisms and gene expression patterns associated with research areas ranging from biodefense, pathological changes, and monitoring antimicrobial resistance genes to diagnostics, marine biodiversity, and dermal toxicology.

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Book SynopsisChronic pancreatitis (CP), a worldwide disease, is primarily recognised as a long-standing inflammation of the pancreas that alters the organ''s normal structure and functions. CP reflects the end-stage pathology of inflammation-associated diseases. It presents episodes of acute inflammation or chronic damage of pancreas with symptoms of persistent abdominal pain or malabsorption, weight loss, pain related to the intake of food containing a high percentage of fats and protein. The health conditions of diabetics have been found to deteriorate due to pancreatic damage in CP. A plethora of information has emerged in recent years in the area of pancreatitis research. The frontiers of current pancreatic research reflected its newer definitions, classifications, tools for investigations, animal models, insight into the molecular mechanisms of the initiation of the earliest pancreatic injury, the role of cytokines and inflammation; and attributes of genetic mutations in SPINK1 CFTR, CTSB, MTHFR and ACE etc. during pancreatitis. The topological variations of patients have been found to be associated to a different trend of pathogenesis and severity of the disease, which might be associated to relatively poor nutritional uptake and other environmental factors. Keeping these facts in view, we envisaged to bring out an updated overview on this subject in general and to present the experiment based information on tropical chronic pancreatitis (TCP) in the patients from northern part of India in particular.

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Book SynopsisThe FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counselling, new-born screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counselling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.

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Book SynopsisIn this book, mathematical aspects of a population genetics are considered. On the basis of the Hardy - Weinberg law, the standard approach to population genetics problems is stated. Along with the standard approach, the necessity of separate research of family tree genetics and population genetics, which represent set of the family trees, is shown. Family trees are investigated by methods of discrete mathematics in a discrete time scale which is defined by alternation of generations. It is necessary to transit to a continuous time scale, continuous functions, therefore the Hardy-Weinberg law is written down in the form of the differential equation of the second order. Transition to continuous functions has allowed us to receive new and certainly not trivial results in population genetics. In particular, a new approach to problems of a mutations occurrence under radiation is discussed, of a new growths occurrence, and migrations of populations under various conditions to reveal nonlinear character of inbreeding and natural selection. The book can be useful to geneticists, students-biologists, post-graduate students and everyone who is interested in problems of population genetics.

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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 mitochondrial gene diversity of the mega-herbivorous species of the genus Tapirus (tapiridae, perissodactyla) in South America and some insights on their genetics conservation, systematics and the pleistocene influence on their genetic characteristics; strategies for gene prospecting of plants in response to drought and salinity; clinical evidence and the genetic effects of traditional Chinese medicine for the management of proteinuria in patients with diabetic nephropathy; biochemistry and genetics of ansamycin antibiotics; BRCA gene mutations mediate particularly high TNBC risk by defective estrogen signaling; genotype-phenotype relationships in language processes in Rett syndrome; Marfan syndrome; Marfan syndrome and periodontitis; combined pectus correction and aortic valve sparing root replacement in Marfan patients; severe periodontitis in Marfan syndrome; and preimplantation genetic diagnosis for Marfan syndrome.

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Book SynopsisIn the human body, collagen is the most abundant structural protein, forming up to 35% of the entire protein content of the whole body. In this book, the preparation, characterization and applications in tissue regeneration of bovine type 1 collagen are reviewed. Furthermore, collagen is often used in regenerative medicine. In this book, the authors report on the helicity of collagen molecule in fibrils by circular dichroism spectroscopy and the thermograph of fibrils by differential scanning calorimetry (the structural aspects of collagen molecules). In the last chapter, second harmonic generation (SHG) microscopy is reviewed and its potential to visualize collagen fibers in a variety of connective tissues.

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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 patent roadmap for the biosensor space; avoidant/restrictive food intake disorder in a female patient affected by Marfan syndrome; optimising oil production in B. napus by gene stacking; periodontitis; genomic imprinting and the brain: neuron-specific switching of gene expression at imprinting regions; and pharmacogenomics focusing on phase two metabolising enzymes.

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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 the most recent Y chromosome progress within the main fields of genetics; male infertility associated with TTTY gene family deletions in the Y chromosome; genetic diversity assessment by random amplified polymorphic DNA; the effect of habitat fragmentation on genetic diversity; the use of HeLa cells as a model for studying DNA damage and repair; the molecular genetics of polycythemia vera; recent advances and molecular background of microRNAs in disease; papaya viral diseases; phylogenetics and phylogeography of large neotropical rodents by means of mitochondrial genes; and omics technologies applied to prokaryotes.

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Book SynopsisEpigenetics is a relatively new field of science explaining heritable changes that are not caused by alterations in DNA sequences. Epigenetic modifications are acquired throughout life, and depend on environmental clues such as diet, lifestyle and toxin exposure. It is possible to pass down epigenetic modifications to the next generation of offspring if the modifications occur in sperm or egg cells. Additionally, epigenetic regulations are central to many cellular processes such as imprinting, X chromosome inactivation, DNA damage response, cellular reprogramming and senescence. This book provides an overview for the influence of early life nutrition on the epigenome and the role of epigenetic dysregulations in the pathogenesis of many common diseases.

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Book SynopsisThe study of autism development disorders has been dominated by the neurodevelopmental paradigm for almost 50 years. This book challenges the exclusivity of the neurodevelopmental paradigm by using unique population cohort data to study recurrence risk of ASD in Israel. Randomness in the timing of ASD diagnoses of index children is exploited, as in a natural experiment, to randomise within-group reproductive stoppage. Some parents of children on the spectrum consciously refrained from reproductive stoppage by having further children. Other parents had further children before their index child was diagnosed. The former parents raised their further children having gained experience in raising children on the spectrum. The latter parents raised their children under a veil of ignorance, to be broken when their index children were diagnosed. Whereas neurodevelopmental theory predicts that recurrence risk is the same for both types of parents, behavioural theory predicts that they should be different. Population cohort data for Israel corroborate the predictions of behavioural theory. Indeed, corroboration applies in four different tests. More generally, the author calls for a level playing field in which behavioural theory of recurrence risk is placed on an equal footing as the dominant neurodevelopmental paradigm. He also argues for methodological pluralism in which the epidemiological toolbox is augmented with methods from statistics and econometrics. In summary, the author offers a critique of the current state of research on recurrence risk of ASD.Table of ContentsPreface; Recurrence Risk; Recurrence Risk Theory; Methodology for Recurrence Risk; Empirical Estimates of Recurrence Risk; Population Cohort Data for Israel; Within-group Reproductive Stoppage in Israel; Behavioral Influences on Recurrence Risk; Selection Bias Induced by Reproductive Stoppage in Estimates of Recurrence Risk for Autism Spectrum Disorders; What Have We Learned About Recurrence Risk?; The Transition into Adulthood with Autism Spectrum Disorders; Index.

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Book SynopsisEpigenetics, which deals with the study of heritable gene expression that takes place independent of changes in DNA sequence, and optogenetics, which deals with the study of genes expressed under the influence of light, are two emerging areas of study and research that have contributed immensely to our current knowledge of mechanisms and disease processes in humans. These disciplines are interrelated in the broader picture of biology and one can be used to change or modify the other. The complexity of the techniques involved in these disciplines often leads to a lack of proper understanding by researchers from other disciplines and the scientific community at large. As such, this book provides simple and easy-to-follow explanations of some of the most exciting areas of research in these disciplines.

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Book SynopsisThis work which was published to mark the tenth anniversary of the collaboration between the Institut Pasteur and the Riken Institute in Japan, covers a number of research fields in which both laboratories are active: precocious development in mice and the effect on them of disactivating genes, nuclear oncogenes and their role in controlling cell division, and the molecular bases of bacterial and viral infections. There are also chapters dealing with specific aspects of immune recognition, the genetics of sexual determination in humans and a new technique for studying the human genome. This book is intended for researchers and physicians in the fields of immunology, genetics, bacteriology/virology, cancerology, developmental biology, cellular biology and neurobiology.

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Book Synopsis"In this timely study, Jean Buttigieg demonstrates the necessity to make it a legal principle of international law that the human genome is a common heritage of mankind. In 1997, the UNESCO General Conference declared the human genome a common heritage of humankind. This declaration was followed by the Joint Statement of March 14, 2000, by US President Bill Clinton and British Prime Minister Tony Blair, in which they stated that the fundamental data on the human genome, including the human DNA sequence and its variations, should be made freely available to scientists everywhere. This announcement to allow unencumbered access to this fundamental data on the human genome, for the benefit of all humanity, appeared to endorse the UNESCO Declaration of 1997 on the human genome. But as it turns out, these statements were only political slogans since there is a complete lack of any genuine attempts to make the human genome a legal principle of international law so far. This study's foremost goal is to re-introduce the philosophical and political implications of the concept of common heritage of mankind into public discourse, as intended by Arvid Pardo when he addressed the UN General Assembly on November 1, 1967, and apply them to the human genome. As Buttigieg demonstrates, the biggest challenge here comes from the patent system in its present form, which encourages the commercialization of the human genome by explicitly denying scientists unencumbered access to the fundamental raw data. By putting individual rights before community rights, the patent system effectively hinders discoveries that prompt new and better medical treatments. Buttigieg also discusses issues of biotechnology. While the biotechnology debate is very often centred on which new applications of biotechnology should or should not be permitted, it so far lacks a critical philosophical analysis of biotechnology itself. The true essence of the human genome, Buttigieg argues, is to be found in metaphysics and not biology. This study fills a gap in the literature on the human genome and the common heritage of mankind by addressing the metaphysical nature of the human genome and discussing the philosophical concerns surrounding the field of biotechnology."

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Book SynopsisThe definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographsBrilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians. --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.Trade ReviewNo books come to mind for comparison. This is a unique and high-quality publication that should be considered essential for teaching and practicing medical genetics. * Luis F Escobar, Doodys *Table of ContentsForeword John M. Opitz Preface 1. Achondroplasia AND Related FGFR3 Conditions 1.1 Thanatophoric Dysplasia, Types 1 and 2 (MIM 187600, 187601) 1.2 ACHONDROPLASIA (MIM 100800) 1.3 Hypochondroplasia (MIM 146000) 1.4 SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) (MIM 616482) 2. PSEUDOACHONDROPLASIA AND DOMINANT EPIPHYSEAL DYSPLASIA 2.1 Pseudoachondroplasia (MIM 177170) 2.2 MULTIPLE EPIPHYSEAL DYSPLASIAS, AUTOSOMAL DOMINANT (MIM 132400, 614135, 600204, 600969, 607078) 3. 3.1 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (MIM 156500) 3.2 Cartilage-Hair Hypoplasia (MIM 250250) 3.3 Metaphyseal Dysplasia, Spahr Type (MIM 250400) 3.4 Metaphyseal Anadysplasia (MIM 602111, 613073) 3.5 SHWACHMAN SYNDROME (MIM 260400) 3.6 Metaphyseal Chondrodysplasia, Jansen Type (MIM 156400) 3.7 EIKEN DYSPLASIA (MIM 600002) 3.8 CINCA (Chronic Infantile Neurologic Cutaneous and Articular Syndrome) (MIM 607115) 4. 4.1 Achondrogenesis II, Hypochondrogenesis (MIM 200610) 4.2 Platyspondylic Dysplasia, Torrance Type (MIM 151210) 4.3 Spondyloepiphyseal Dysplasia Congenita (MIM 183900) 4.4 Spondylo-epi-metaphyseal Dysplasia, Strudwick type (MIM 183900, 184250, 184253) 4.5 KNIEST DYSPLASIA (MIM 156550) 4.6 spondyloepiphyseal Dysplasia, stanescu type (MIM 616538) 4.7 Spondyloperipheral Dysplasia (MIM 271700) 4.8 Spondyloepiphyseal Dysplasia with short metatarsals (MIM 609162) 4.9 Stickler Dysplasia (MIM 108300, 604841) 4.10 Fibrochondrogenesis (MIM 228520) 4.11 Oto-Spondylo-Megaepiphyseal Dysplasia (MIM 184840, 277610, 215150) 5. Mucopolysaccharidoses and Oligosaccharidoses 5.1 Dysostosis multiplex 5.2 Mucopolysaccharidosis IV (MIM 253000, 253010) 5.3 MUCOLIPIDOSIS II (MIM 252500) 5.4 MUCOLIPIDOSIS III (MIM 252600, 252605) 6. Metatropic Dysplasia and Other TRPV4-related Skeletal Dysplasias 6.1 Metatropic Dysplasia (MIM 156530, 168400) 6.2 Spondyloepiphyseal Dysplasia, Maroteaux Type (MIM 184095) 6.3 Spondylometaphyseal Dysplasia, Kozlowski Type (MIM 184252) 6.4 Brachyolmia, autosomal dominant (MIM 113500) 6.5 Familial Digital Arthropathy with Brachydactyly(MIM 606835) 7. 7.1 Achondrogenesis type 1A (MIM 200600) 7.2 ODONTOCHONDRODYSPLASIA (MIM 184260) 7.3 Schneckenbecken Dysplasia (MIM 269250) 7.4 OPSISMODYSPLASIA (MIM 258480) 7.5 Spondylometaphyseal dysplasia - Sedaghatian type. (MIM 250220) 7.6 Spondyloenchondrodysplasia (MIM 607944) 7.7 SEMD, PAPSS2 TYPE; AND BRACHYOLMIA, AUTOSOMAL RECESSIVE TYPE (MIM 271530, 271630) 7.8 Dyggve-Melchior-Clausen Dysplasia (MIM 223800) 7.9 Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type (MIM 271665) 7.10 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (MIM 608940) 7.11 Dyssegmental Dysplasia (MIM 224400, MIM 244110) 7.12 Schwartz-Jampel Syndrome (MIM 255800) 7.13 Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400) 7.14 Aggrecan-Associated Skeletal Dysplasias (MIM 608361, 612813) 7.15 Wolcott-Rallison Syndrome (MIM 226980) 7.16 Schimke Immunoosseous Dysplasia (MIM 242900) 7.17 Progressive Pseudorheumatoid Chondrodysplasia (MIM 208230) 7.18 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (MIM 184255) 7.19 Sponastrime Dysplasia (MIM 271510) 7.20 CODAS SYNDROME (MIM 600373) 7.21 NANS (N-AcetylNeuraminic acid Synthase) DEFICIENCY (OMIM 610442) 7.22 SPONDYLO-EPI-METAPHYSEAL DYSPLASIA WITH IMMUNE DEFICIENCY AND DEVELOPMENTAL DISABILITY, EXTL3-DEFICIENT TYPE 8. 8.1 Achondrogenesis, Type IB (MIM 600972) 8.2 ATELOSTEOGENESIS TYPE 2 (MIM 256050) 8.3 DIASTROPHIC DYSPLASIA (MIM 222600) 8.4 Multiple Epiphyseal Dysplasia, recessive type (rMED)(MIM 226900) 8.5 DESBUQUOIS DYSPLASIA (MIM 251450) 8.6 Chondrodysplasia with Joint Dislocations, IMPAD1/gPAPP type 8.7 Catel-Manzke Syndrome (MIM 616145) 8.8 Chondrodysplasia with congenital joint dislocations, CHST3-type (MIM 143095) 8.9 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (TPBS) (MIM 605282) 8.10 B4GALT7 deficiency (MIM 130070) 8.11 B3GAT3 deficiency (MIM 245600) 8.12 XYLT1 deficiency (MIM 251450) 8.13 Spondyloepimetaphyseal Dysplasia with Joint Laxity BEIGHTON type (MIM 271640) 8.14 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE (MIM 603546) 8.15 Pseudodiastrophic Dysplasia (MIM 264180) 8.16 STEEL SYNDROME (MIM 615155) 9. Filamin-associated Dysplasias/Dysostoses and related disorders 9.1 Otopalatodigital Syndrome Type 1 (MIM 311300) 9.2 Otopalatodigital Syndrome Type II (MIM 304120) 9.3 Melnick-Needles Osteodysplasty(MIM309350) 9.4 Frontometaphyseal Dysplasia (MIM 305620; 617137) 9.5 Boomerang Dysplasia/Atelosteogenesis Type I (MIM 112310, 108720) 9.6 ATELOSTEOGENESIS TYPE III (MIM 108721) 9.7 Larsen Syndrome, Autosomal Dominant (MIM 150250) 9.8 Spondylocarpotarsal Synostosis Syndrome (MIM 272460) 9.9 Frank-ter Haar Syndrome (MIM 249420) 10. PUNCTATE CALCIFICATION GROUP 10.1 Greenberg Dysplasia (MIM 215140) 10.2 CHONDRODYSPLASIA PUNCTATA CONRADI-HÜNERMANN TYPE (MIM 302960) 10.3 CHILD (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) Syndrome (MIM 308050) 10.4 Chondrodysplasia Punctata, Rhizomelic Type (MIM 215100, 222765, 600121) 10.5 Chondrodysplasia Punctata, Brachytelephalangic Type (MIM 302950; 602497) 10.6 Chondrodysplasia Punctata, Autosomal Dominant Type (MIM 118650) 10.7 Chondrodysplasia Punctata, Tibia-Metacarpal Type (MIM 118651) 10.8 KEUTEL SYNDROME (MIM 245150) 11. Short-rib (± polydactyly) dysplasias 11.1 Asphyxiating Thoracic Dysplasia (MIM 208500) 11.2 ELLIS VAN CREVELD SYNDROME (MIM 255500) 11.3 Short Rib (±Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types (MIM 613091) 11.4 Short Rib (±Polydactyly) Syndrome, Majewski Type (MIM 263520) 11.5 SHORT RIB (±POLYDACTYLY) SYNDROME, BEEMER-LANGER TYPE (MIM 269860) 11.6 Cranioectodermal Dysplasia (MIM 218330) 11.7 Mainzer-Saldino Syndrome (MIM 266920) 11.8 Axial Spondylometaphyseal Dysplasia (MIM 602271) 12. Rhizo-MESOMELIC DYSPLASIAS 12.1 Omodysplasia, Autosomal recessive (MIM 258315, 268250) 12.2 ROBINOW SYNDROME (MIM 180700, 616331, 616894, 268310) 12.3 DYSCHONDROSTEOSIS (MIM 127300) 12.4 MESOMELIC DYSPLASIA, LANGER TYPE (MIM 249700) 12.5 Mesomelic Dysplasia, Kantaputra Type (MIM 156232) 12.6 Mesomelic Dysplasia, Werner type (MIM 188740; 135750) 12.7 Mesomelic Dysplasia, Reardon-Kozlowski type (MIM 249710) 12.8 Mesomelic Dysplasia, Nievergelt-Savarirayan Type (MIM 163400; 605274) 12.9 Mesomelic Dysplasia with Acral Synostoses (MIM 600383) 13. Acromesomelic AND ACROMELIC Dysplasias/DYSOSTOSeS 13.1 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE (MIM 602875) 13.2 GREBE DYSPLASIA (MIM 200700, 201250, 228900) 13.3 BRACHYDACTYLY A1 (MIM 112500) 13.4 Brachydactyly B (MIM 113000) 13.5 BRACHYDACTYLY C (MIM 113100) 13.6 BRACHYDACTYLY D (MIM 113200) 13.7 BRACHYDACTYLY E (MIM 113300, 613380) 13.8 BRACHYDACTYLY, CHRISTIAN TYPE (MIM 112450) 13.9 TRICHO-RHINO-PHALANGEAL DYSPLASIA, TYPE I (MIM 190350) 13.10 TRICHO-RHINO-PHALANGEAL SYNDROME, TYPE II (MIM 150230) 13.11 Acrocapitofemoral Dysplasia (MIM 607778) 13.12 Albright Hereditary Osteodystrophy(MIM 103580, 600430, 612462, 612463 ) 13.13 ACRODYSOSTOSIS (MIM 101800, 614613) 13.14 Geleophysic Dysplasia (MIM 231050) 13.15 ACROMICRIC DYSPLASIA (MIM 102370) 13.16 MYHRE SYNDROME (MIM 139210) 13.17 SOFT Syndrome (MIM 614813) 14. Osteogenesis Imperfecta and other Disorders with Decreased Bone Density 14.1 Osteogenesis imperfecta 14.2 Osteogenesis Imperfecta, Type I (MIM 116200) 14.3 Osteogenesis Imperfecta, Type IIA (MIM 166210) 14.4 Osteogenesis Imperfecta, Type IIC 14.5 Osteogenesis Imperfecta, Type III/IIB (MIM 259420) 14.6 Osteogenesis Imperfecta, Type IV (MIM 166220) 14.7 Osteogenesis Imperfecta, Type V (MIM 610967) 14.8 Idiopathic Juvenile Osteoporosis (MIM 259750) 14.9 Bruck Syndrome (MIM 259450; 609220; 610968) 14.10 Cole-Carpenter Syndrome (MIM 112240, 616294) 14.11 STüVE-WIEDEMANN syndrome (MIM 601559) 14.12 osteoporosis-pseudoglioma syndrome (MIM 259770) 14.13 Spondyloocular dysplasia (MIM 605822) 14.14 Geroderma Osteodysplasticum (MIM 231070) 14.15 CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS SYNDROME (MIM 126550) 14.16 Gnathodiaphyseal Dysplasia (MIM 166260) 15. 15.1 Hypophosphatasia (MIM 146300, 241500, 251510) 15.2 Neonatal Severe Primary Hyperparathyroidism (MIM 239200) 16. Dense Bone Dysplasias with Normal Bone Shape 16.1 Dense Bone Dysplasias with Normal Bone Shape 16.2 Raine Dysplasia (MIM 259775) 16.3 Infantile Osteopetrosis (MIM 259700, 259710, 259720, 611490) 16.4 Osteopetrosis, Intermediate (MIM 259710, 611497) 16.5 Osteopetrosis, Late Onset Forms (MIM 607634, 166660) 16.6 Osteopetrosis with Renal Tubular Acidosis (MIM 259730) 16.7 DYSOSTEOSCLEROSIS (MIM 224300) 16.8 Pyknodysostosis (MIM 265800) 16.9 OsteomesopYknosis (MIM 166450) 16.10 Osteopetrosis, Lymphedema, Ectodermal Dysplasia, Immune Defect (MIM 300301) 16.11 Osteopoikilosis (MIM 166700) 16.12 Melorheostosis (MIM 155950) 16.13 Osteopathia Striata with Cranial Sclerosis (MIM 300373) 17. Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects 17.1 BLOMSTRAND CHONDRODYSPLASIA (MIM 215045) 17.2 Infantile Cortical Hyperostosis (MIM 114000) 17.3 Dysplastic Cortical Hyperostosis type Kozlowski-Tsuruta 17.4 Osteoectasia with Hyperphosphatasia (MIM 239000) 17.5 Endosteal Hyperostosis, van Buchem type (MIM 239100, 269500) 17.6 Camurati-Engelmann Disease (MIM 131300) 17.7 l Hematodiaphyseal Dysplasia (MIM 231095) 17.8 z-Majewski Hyperostotic Dysplasia (MIM 151050) 17.9 Hypertrophic osteoarthropathy, Autosomal Recessive (MIM 259100) 17.10 Pachydermoperiostosis, Autosomal dominant (MIM 167100) 17.11 Sclerosteo-Cerebellar Syndrome (MIM 213002) 17.12 Craniodiaphyseal Dysplasia (MIM 122860, 218300) 17.13 Craniometaphyseal Dysplasia (MIM 123000; 218400) 17.14 Craniometadiaphyseal Dysplasia wormian bone type (MIM 269300) 17.15 Pyle Disease (MIM 265900) 17.16 Metaphyseal Dysplasia, Braun-Tinschert Type (MIM 605946) 17.17 OCULODENTOOSSEOUS DYSPLASIA (MIM 164200) 17.18 Tricho-dento-osseous Dysplasia (MIM 190320) 17.19 Diaphyseal Medullary Stenosis with Bone Malignancy (MIM 112250) 18. 18.1 Familial Expansile Osteolysis (MIM 174810) 18.2 hyaline fibromatosis (MIM 228600) 18.3 Mandibuloacral Dysplasia (MIM 248370; 608612) 18.4 PROGERIA (MIM 176670) 18.5 Winchester-Torg syndrome (MIM 259600) 18.6 Hajdu-Cheney OSTEOLYSIS (MIM 102500) 18.7 Multicentric Carpal-Tarsal Osteolysis (MIM 166300) 19. DISORDERS CAUSED BY DISORGANIZATION OF SKELETAL CONSTITUENTS 19.1 Fibrous dysplasia (MIM 174800) 19.2 Cherubism (MIM 118400) 19.3 Progressive osseous heteroplasia (MIM 166350) 19.4 Multiple Cartilaginous Exostoses (MIM 133700, 133701, 600209) 19.5 Osteoglophonic Dysplasia (MIM 166250) 19.6 Fibrodysplasia Ossificans Progressiva (MIM 135100) 19.7 Dysplasia Epiphysealis Hemimelica (MIM 127800) 19.8 ENCHONDROMATOSIS (MIM 166000) 19.9 METAPHYSEAL CHONDROMATOSIS WITH 2-HYDROXYGLUTARIC ACIDURIA 19.10 Genochondromatosis (MIM 137360) 19.11 Metachondromatosis (MIM 156250) 20. 20.1 CAMPOMELIC DYSPLASIA (MIM 211990, 114290) 20.2 COUSIN DYSPLASIA (MIM 260660) 20.3 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD) (MIM 613330) 20.4 Cleidocranial Dysplasia (MIM 119600) 20.5 Yunis-Varon Syndrome (MIM 216340) 20.6 CDAGS (MIM 603116) 20.7 Nail-Patella Syndrome (MIM 161200) 20.8 Ischio-Pubic-Patellar Dysplasia (MIM 147891) 20.9 Ischiospinal Dysostosis (MIM 608020) 20.10 Cerebro-Costo-Mandibular Syndrome (MIM 117650) 20.11 SAMS SYNDROME (MIM 602471) 21. 21.1 3M Syndrome (MIM 273750, 612921, 614205) 21.2 KENNY-CAFFEY SYNDROME (MIM 127000 (type 2)) 21.3 Osteocraniostenosis (MIM 602361) 21.4 Microcephalic Osteodysplastic Primordial Dwarfism, Types 1 and 3 (MIM 210710, 210730) 21.5 Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (MIM 210720) 21.6 IMAGE (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies) Syndrome (MIM 614732) 22. OVERGROWTH / ACCELERATED SKELETAL MATURATION SYNDROMES (SELECTED) 22.1 Marshall-Smith syndrome (MIM 602535) 22.2 Marshall-Smith syndrome (MIM 602535) 22.3 WEAVER SYNDROME (MIM 277590) 22.4 CNP-overexpression Overgrowth Syndrome (MIM 615923) 23. CRANIOSYNOSTOSIS SYNDROMES 23.1 APERT SYNDROME (MIM 101200) 23.2 Pfeiffer Syndrome (MIM 101600, 136350) 23.3 Antley-Bixler Syndrome (MIM 201750) 23.4 Saethre-Chotzen Syndrome (MIM 101400) 23.5 Baller-Gerold Syndrome (MIM 218600, 266280) 23.6 CARPENTER SYNDROME (MIM 201000, 614970) 23.7 MUENKE SYNDROME (MIM 602849) 23.8 BENT BONE DYSPLASIA-FGFR2 TYPE (MIM 614592) 24. Spondylocostal dysostoses (SCD) 25. 25.1 AL-AWADI RAAS-ROTHSCHILD SYNDROME (MIM 276820, 228930) 25.2 Roberts/SC Phocomelia Syndrome (MIM 268300, 269000) 25.3 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (MIM 129900; 604292) 25.4 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY (SHFLD) (MIM 119100, 610685, 612576) 25.5 FemoraL-Facial Syndrome (FFS) (MIM 134780) 25.6 Femur-Fibula-Ulna Syndrome (MIM 228200) 25.7 POLAND SYNDROME (MIM 173800) 25.8 NAGER SYNDROME (MIM 154400, 201170 ) 26. DISORDERS WITH DEFECTIVE JOINT FORMATION 26.1 Multiple Synostoses Syndrome (MIM 186500; 186570; 610017; 612961) 26.2 Liebenberg Syndrome (MIM 186550) Index

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Book SynopsisThe process of genetic counselling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counsellors, the mathematics and statistics involved can be a major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counsellors, geneticists, and all those involved in providing medical genetic services.In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.Table of ContentsULTRASOUND AND PRENATAL DIAGNOSIS; OVERLAPPING NORMAL DISTRIBUTIONS; LENGTH OF PROMETAPHASE CHROMOSOME SEGMENTS

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