This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

Cell biology is a rapidly advancing subject. Understanding principles of nuclear architecture is a key question. Researchers are starting to develop more strict and rigorous methods of image processing and quantitative analysis to provide an end-to-end process supporting the fundamental biology.

This book has chapters contributed by experts in the field that address the whole endeavour of teasing out the principles of nuclear architecture: ranging from fundamental science, through imaging processing and quantitative analysis, to applications, related to disease. This material is focussed on the latest breakthroughs, and moreover will emphasise a strict and rigorous development of the scientific process. A systems view is stressed where relevant. The objective is not to provide an encyclopaedic compendium of nuclear architecture information, but rather to present state of the art tools in specific contexts, which will readily generalise.

Understanding gene expression and how it changes under normal and pathological conditions is essential to our understanding of the fundamentals of cell biology through to the targeted treatment of disease. In Gene Expression Profiling: Methods and Protocols, Second Edition, experts in their particular fields compile detailed protocols for a broad range of techniques, currently available and being further developed, for the analysis of gene expression at the DNA, RNA, and protein levels. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and easy-to-use, Gene Expression Profiling: Methods and Protocols, Second Edition presents a collection of clearly described and illustrated chapters, certain to be helpful to researchers in academia, in hospitals, and in industry who are interested in applying techniques, whether basic or advanced, for the analysis of gene expression.

Stem cell research has been a problematic endeavour. For the past twenty years it has attracted moral controversies in both the public and the professional sphere. The research involves not only laboratories, clinics and people, but ethics, industries, jurisprudence, and markets. Today it contributes to the development of new therapies and affects increasingly many social arenas. The matrix approach introduced in this book offers a new understanding of this science in its relation to society. The contributions are multidisciplinary and intersectional, illustrating how agency and influence between science and society go both ways. Conceptually, this volume presents a situated and reflexive approach for philosophy and sociology of the life sciences. The practices that are part of stem cell research are dispersed, and the concepts that tie them together are tenuous; there are persistent problems with the validation of findings, and the ontology of the stem cell is elusive. The array of applications shapes a growing bioeconomy that is dependent on patient donations of tissues and embryos, consumers, and industrial support. In this volume it is argued that this research now denotes not a specific field but a flexible web of intersecting practices, discourses, and agencies. To capture significant parts of this complex reality, this book presents recent findings from researchers, who have studied in-depth aspects of this matrix of stem cell research. This volume presents state-of-the-art examinations from senior and junior scholars in disciplines from humanities and laboratory research to various social sciences, highlighting particular normative and epistemological intersections. The book will appeal to scholars as well as wider audiences interested in developments in life science and society interactions. The novel matrix approach and the accessible case studies make this an excellent resource for science and society courses.

Chemotherapy has made a dramatic difference to improved survival in patients with cancer. However, not all patients respond and some experience serious side effects.

"Pharmacogenetics: Making cancer treatment safer and more effective" is an up to date summary of the exciting new field of how genetic testing can tailor more effective prescription in oncology.

It is targeted at oncologists and professionals involved in the treatment of patients with cancer. It provides a core background in genetics and pharmacological principles before providing chapters from acknowledged experts in the field on genetic tests in specific cancer types, including breast, bowel and lung cancer. Clinical cases are used to illustrate the practical application of this knowledge.

Chapters on ethics, health economics and the industry aspects of pharmacogenetics set out the challenges and opportunities afforded by this new science.

Germ cells in sexually reproducing metazoa, through the germline lineage, are the route by which genetic material and cytoplasmic constituents are passed from one generation to the next in the continuum of life. Chapters in this book review germ cell development in the model organism Caenorhabditis elegans, discussing the biology, the genetics and the molecular mechanisms for various processes, as well as drawing comparisons with other organisms. Processes discussed include specification of germ cell fate, meiosis, gametogenesis, environmental/ physiological controls, epigenetics and translational control, fertilization and the oocyte-to-embryo transition. This book thus provides a comprehensive picture of the germline lineage and the continuum of life for the worm.

This book, written by a leading geneticist, examines the ethical and social issues raised by the genetic testing of children. The opinions of geneticists, ethicists and affected families are all included to give a balanced view of this controversial field. Issues covered include confidentiality, potential abuses of genetic information (eg the use of test results by insurance companies) and the value of predictive genetic testing.
The aim of the book is to improve awareness of the complexity of the issues raised and provide suggestions as to how the discussions must develop - it therefore raises new questions as well as answering those that already exist.

Research into ancient DNA began more than 25 years ago with the publication of short mitochondrial DNA sequence fragments from the quagga, an extinct relative of the zebra. Ancient DNA research really gained momentum following the invention of PCR, which allowed millions of copies to be made of the few remaining DNA molecules preserved in fossils and museum specimens. In Ancient DNA: Methods and Protocols expert researchers in the field describe many of the protocols that are now commonly used to study ancient DNA. These include instructions for setting up an ancient DNA laboratory, extraction protocols for a wide range of different substrates, details of laboratory techniques including PCR and NGS library preparation, and suggestions for appropriate analytical approaches to make sense of the sequences obtained. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Ancient DNA: Methods and Protocols seeks to aid scientists in the further study of ancient DNA and the methodological approaches in ancient research.

The book is primarily concerned with DNA fingerprinting and DNA profiling in the context of forensic medicine and kinship testing. It concentrates on methods of determining the degree of relatedness of members of the same species, focusing on humans and occasionally glancing at other species.

This textbook provides an introduction to neuroscience, focusing particularly on the rapidly developing aspects. The techniques of molecular biology are introduced and described in the context of their role in elucidating brain function at the molecular level.

Using the clinical picture of triplet repeat disorders as a starting point, this work reviews and integrates understanding of the molecular pathologies, the genotype-phenotype relationships, and the mutational processes of trinucleotide repeats of triplet repeat disorders. Laboratory and clinical issues relating to genetic testing for these disorders are also addressed. This book is aimed at clinicians and researchers in genetics, neuroscience, paediatrics and psychiatry.

This detailed book provides a comprehensive state-of-the-art presentation of all aspects of miRNA target identification, from the prediction of miRNA binding sites on their target molecules to their experimental validation and downstream functional analysis. It also explores methodologies and tools for target prediction and related analysis, as well as tutorials on specific tasks, tools, and analysis pipelines. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, MicroRNA Target Identification: Methods and Protocols updates on basic and advanced concepts involving miRNA target identification and delivers an extremely useful guide to specific computational tasks and analysis in miRNA research.

An important new collection of clinical and preclinical reports on genetic therapy, this book describes illustrative examples of diseases in which gene-based interventions are presently plausible, and presents case studies of current research using both synthetic oligonucleotides and biological vectors. Combining the insights of over 50 contributors, Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors -furnishes a historical overview of genetic therapy -highlights official Food and Drug Administration positions on the preparation of oligonucleotides and vectors -offers practical models of agent preparation, animal testing, pharmacokinetics, toxicology, and clinical trials -discusses both synthetic DNA and biological vector approaches to cancer, viral, and cardiological indications -illustrates for new practitioners how each stage of genetic therapy is developed -details genetic treatment of leukemia; lymphoma; cancer of the brain, breast, colon, kidney, and lung; melanoma; HIV; and coronary restenosis -includes examples of antisense, ribozyme, tumor suppressor, immunostimulation, and gene replacement therapy -and addresses questions of preparation, delivery, toxicity, mechanism, and specificity.

In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities.

This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include:

• A section devoted to the nomenclature of chromosome abnormalities
• Pictorial material suitable to be shown to patient populations
• Descriptions of the phenotype in tabular and text form for quick and easy reference
• Ideograms for each entry
• A list of key references

Practicing clinicians–including primary care providers, pediatricians, and obstetricians–genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.

Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

A geneticist tells the stories of men, women, and children whose genes have shaped their lives in unexpected ways.

It was while listening to a colleague tell the parents of a newborn girl that their daughter was going to die that a lifelong interest in genetic medicine was sparked in Dr Edwin Kirk. Warmth and gentleness tempered a direct, sure manner - this was the medicine he wanted to practise, where the most advanced science and the most deeply human meet. Twenty-five years later, Dr Kirk works both with patients and in the lab, and he spearheads a campaign that will change the way we think about having babies. His experience is without parallel, but it is his humour and insight that make all the difference.

Find out why Dr Kirk found himself among hundreds of people, each with a glass of poison in front of them - and how you might perform the same experiment yourself (without the poison). Learn how the realisation that a young boy wasn't short ended up saving the life of his mother - and how Angelina Jolie has saved the lives of many more. Sit in the room with Dr Kirk and his patients as they navigate the world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality. In genetics, it is the particularities of an individual's history that matter, and here, in clear and considerate writing, those individual stories are given voice.

This volume begins with a summary of the classical genetic studies and molecular genetic studies of the most common diseases, and indicates what makes them amenable to analysis and treatment. A range of possible future therapeutic options are discussed, from conventional drug targets through to gene therapy. The final chapters assess the value of diagnosis and prediction of the inheritance of various diseases.

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the "father of medical genetics". He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.

Gene Therapy describes the delivery systems now available to target a given tissue with specific gene or oligonucleotide sequences, and explores the utility of animal modules as test systems. In the context of selected disease states, it summarises in vitro and in vivo studies and clinical trials performed to date.

This new edition explores current and emerging mutagenesis methods focusing specifically on mammalian systems and commonly used model organisms through comprehensive coverage and detailed protocols. Since the first edition, major advances and discoveries have made chromosomal mutagenesis a widely used technique and one that is available to any molecular biology laboratory, and this collection provides detailed protocols, case-studies, and reviews from thought-leaders in the field. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and fully updated, Chromosomal Mutagenesis, Second Edition aims to help speed scientific discovery and aid in the next advances in the field.

Genetics and Gene Therapy shows the wide range of the debate and the very real significance that genetics and its associated developments have for human beings, individually and collectively. Few areas of science and medicine have resulted in the volume of academic and popular literature as has genetics. The so-called revolution in understanding of the causes of disease states, and even behavioural traits, has focussed public attention on the influence of genes in making us what we are. Rapidly, however, the potential benefits of such understanding were overtaken, in the public mind at least, by the question of the possible (negative) implications of genetic knowledge and associated technologies. The chapters in this volume show just how wide-ranging concern has become, ranging from regulation to cloning, with the fear of discrimination in between. Part One begins with a range of general discussions of about the genetic enterprise itself, followed by consideration of some specific questions. Part Two then addresses cutting edge debates in genetics.

This innovative book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it will help mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to underlying concepts at the heart of personalized medicine - pharmacogenomics, targeted therapies and individualized diagnosis and treatment - and shows how, with the advent of genomic technologies, clinicians will have the capability to predict and diagnose disease more efficiently. Advocating a patient-centred approach at the heart of care, this introduction to personalized medicine, the science behind it, its economic effects, its effects upon patients and its overall implications for society will be invaluable to clinicians, to healthcare providers and to patients.

"Molecular Genetics of Inherited Eye Disorders" provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the "candidate gene" approach to genetic eye disease. "Reverse genetic" approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins. Sections on albinism, retinitis pigmentosa and collagen disorders deal w

To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.

To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.