From reviews: “There is no comparable book on the market; in fact, this is the best teaching tool currently available. The case study methodology is unique and extremely effective. The authors have outdone themselves and congratulations are in order.” Doody's Reviews, Jan 2012 “This text is a must-read for anyone wishing to stay current with the fast-paced field of clinical genetics.” OrphaNews Europe From reviews of the first edition: “Very few books have attempted to do what the authors have accomplished so well. They make genetics simple, attractive, and real. They provide a link between daily situations in the practice of clinical genetics and the complex information available in human genetics. I look forward to subsequent editions of this wonderful work.” Doody’s Notes “This book provides a wonderful case-based learning environment. There are also self assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!” Human Genetics “This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge.” European Journal of Human Genetics “The book can also be read through the case studies which span the chapters and follow the experience of individual families to illustrate specific points. This is a novel approach and, as in real life, the information on families is slowly teased out, covering a combination of topics. The use of such case studies brings genetics to life.” Ulster Medical Journal The second edition of New Clinical Genetics has been comprehensively updated, but the unique structure and format of the first edition have been retained. New cases have been introduced covering Fragile X and the identification of an underlying chromosome problem by SNP chip analysis. While many of the basic scientific principles remain, much new material has been added: · SNP arrays and next generation sequencing (including whole exome sequencing) are described and their impact on clinical genetic services discussed · noncoding RNAs are covered in more detail · developmental pathways are discussed in the context of the RAS–MAPK pathway · the value and limitations of genome-wide association studies for identifying susceptibility to common diseases are reviewed in the light of the extensive experimental data now available · the final chapter has been substantially enlarged to show how genetic services are delivered and the increasing role of clinical geneticists in patient management The innovative integrated case-based approach coupled with the clear writing style of the authors has made this book a hugely successful textbook for medical students worldwide. It is also an essential guide to modern medical genetics for all those involved in the field, from clinical and nurse geneticists to genetic counselors. Printed in full colour throughout.
Author: Andrew P. Read,Dian Donnai
Publisher: Scion Pub Limited
Instructors' comments on new, 3rd, edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It's great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: *the widespread use of next-generation sequencing as a routine diagnostic tool *the checking of a patient's whole exome for the cause of their problem *noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation *a new integrated treatment of epigenetics *mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes *dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: "This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!" Human Genetics "This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge." European Journal of HumanGenetics
Author: Read,Dian Donnai
Category: Medical genetics
New Clinical Genetics provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. This first edition has been superseded by a new edition, launched October 2010.
Author: Andrew P. Read,Dian Donnai
Publisher: Scion Pub Limited
A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.
Author: Helen V. Firth,Jane A. Hurst
Publisher: Oxford University Press
Professors Tom Strachan & Andrew Read awarded the Education Award 2007 of the ESHG for their outstanding contribution to the dispersal of knowledge of modern human molecular genetics among students and professionals. Following the completion of the Human Genome Project the content and organization of the third edition of Human Molecular Genetics has been thoroughly revised. * Part One (Chapters 1-7) covers basic material on DNA structure and function, chromosomes, cells and development, pedigree analysis and the basic techniques used in the laboratory. * Part Two (Chapters 8-12) discusses the various genome sequencing projects and the insights they provide into the organisation, expression, variation and evolution of our genome. * Part Three (Chapters 13-18) focuses on mapping, identifying and diagnosing the genetic causes of mendelian and complex diseases and cancer. * Part Four (Chapters 19-21) looks at the wider horizons of functional genomics, proteomics, bioinformatics, animal models and therapy. There are new chapters on cells and development and on functional genomics. The sections on complex diseases have been completely rewritten and reorganized, as has the chapter on Genome Projects. Other changes include a new section on molecular phylogenetics (Chapter 12) and the introduction of 'Ethics Boxes' to discuss some of the implications of the new knowledge. Virtually every page has been revised and updated to take account of the stunning developments of the past four years since the publication of the last edition of Human Molecular Genetics. Features: * Integration of Human Genome Project data throughout the book * Two new chapters 'Cells and Development' (Chapter 3) and 'Beyond the Genome Project: Functional Genomics, Proteomics and Bioinformatics' (Chapter 19) * Completely rewritten and reorganised coverage of complex disease genetics * Increased emphasis on gene function and on applications of genetic knowledge, including ethical issues * More prominence given to novel approaches to treating disease, such as cell-based therapies, pharmacogenomics, and personalised medicine * Special topic boxes that include detailed coverage of ethical, legal and social issues, including eugenics, genetic testing and discrimination, germ-line gene therapy and genetic enhancement, and human cloning * Contains two indices: a general index and one that contains names of diseases and disorders Supplements: Art of HMG3 (CD-ROM) 0-8153-4183-0: £34.00
Author: T. Strachan,Andrew P. Read
Publisher: Garland Science
Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
Author: Dorian J. Pritchard,Bruce R. Korf
Publisher: John Wiley & Sons
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author: Suzanne B. Cassidy,Judith E. Allanson
Publisher: John Wiley & Sons
Genetics is a rapidly changing field, making it difficult for Primary Care practitioners to keep up to date. This book is a collaboration between 2 consultant geneticists, and 2 experienced GPs. This small book provides accessible information, including explanatory diagrams and family trees, about both specific genetic diseases and the possible genetic components of major diseases, such as heart disease and diabetes, for the primary health care team. It aims tohelp practitioners to know why, when and where they should refer patients or affected families to get the best advice about, or surveillance of, genetic disease. It also contains information about the genetic testing which may be offered in secondary care. Each chapter also contains a list ofresources which might be of further use to the practitioner or their patient. There are chapters on cancer, as well as antenatal screening, and specific problems that may arise from such screening.
Author: Guy Bradley-Smith,Sally Hope,Helen V. Firth,Jane A. Hurst
Publisher: Oxford University Press
Pharmacogenetics, Kinetics, and Dynamics for Personalized Medicine provides a primer to understand pharmacogenetics (the study of genetic factors that influence how a drug works) in the applied context of pharmacokinetics (how the body handles a drug) and pharmacodynamics (the effects of a drug on the body). This valuable foundation illuminates how these principles and scientific advances can create optimal individual patient care, that is, personalized medicine. Through specific drug examples, this resource explores how the genetic constitution of an individual may lead to the need for an altered dose or in some cases alternative drug therapy. Real-world cases highlight the specific relationships between genetics, drug action, and the body s response as well as adverse drug reactions, altered metabolism, and drug efficacy. Ethical issues concerning pharmacogenomics and study design are also discussed in this concise overview."
Author: David F. Kisor,Professor of Pharmacokinetics Chair Department of Pharmaceutical and Biomedical Sciences Ohio Northern University Raabe College of Pharmacy David F Kisor,Michael D. Kane,Jon E. Sprague,Jeffery N. Talbot
Publisher: Jones & Bartlett Publishers
The concepts of veterinary genetics are crucial to understanding and controlling many diseases and disorders in animals. They are also crucial to enhancing animal production. Accessible and clearly presented, Introduction to Veterinary Genetics provides a succinct introduction to the aspects of genetics relevant to animal diseases and production. Now in its third edition, this is the only introductory level textbook on genetics that has been written specifically for veterinary and animal science students. Coverage includes: basic genetics, molecular biology, genomics, cytogenetics, immunogenetics, population genetics, quantitative genetics, biotechnology, and the use of molecular tools in the control of inherited disorders. This book describes in detail how genetics is being applied to artificial selection in animal production. It also covers the conservation of genetic diversity in both domesticated and wild animals. New for the Third Edition: End-of-chapter summaries provide quick recaps. Covers new topics: epigenetics, genomics and bioinformatics. Thoroughly revised according to recent advances in genetics. Introduction to Veterinary Genetics is still the only introductory genetics textbook for students of veterinary and animal science and will continue to be an indispensable reference tool for veterinary students and practitioners alike.
Author: Frank W. Nicholas
Publisher: John Wiley & Sons
Dr. Richard Polin’s Neonatology Questions and Controversies series highlights the most challenging aspects of neonatal care, offering trustworthy guidance on up-to-date diagnostic and treatment options in the field. In each volume, renowned experts address the clinical problems of greatest concern to today’s practitioners, helping you handle difficult practice issues and provide optimal, evidence-based care to every patient.
Neonatology Questions and Controversies
Author: Robin K Ohls,Akhil Maheshwari
Publisher: Elsevier Health Sciences
Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how genetics and genomics affect the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights into its molecular basis and approaches to its detection gained from cancer genomics. Specific topics, including multiple examples of clinical disorders, molecular mechanisms, and technological advances, are profiled in boxes throughout the text.
Author: Tom Strachan,Judith Goodship,Patrick Chinnery
Publisher: Taylor & Francis
This expanded third edition provides an introduction to the conduct of clinical research as well as more comprehensive and expansive content about the infrastructure necessary for a successful clinical research organization or enterprise. With authors who are experts in clinical research in both the public and private sectors, this publication provides essential information to clinical investigators who wish to develop and conduct well designed patient-based research protocols that comply with rigorous study design, ethical, and regulatory requirements.
Author: John I. Gallin,Frederick P. Ognibene
Publisher: Academic Press
Important scientific discoveries and ever-changing guidelines for how to identify and manage patients with hereditary cancer syndromes are constantly evolving. This Third Edition of Counseling About Cancer is completely updated and expanded to feature five entirely new chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.
Strategies for Genetic Counseling
Author: Katherine A. Schneider
Publisher: John Wiley & Sons
Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, 3E will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome,2E includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information . Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students Full, 4-color illustration program enhances and reinforces key concepts and themes Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers
Author: Julia E. Richards,R. Scott Hawley
Publisher: Academic Press
Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the information now available it is necessary to understand the basic principles of inheritance and its chromosomal and molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other specialties are involved in the genetic aspects of the conditions they treat and need to provide information about genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware of the ethical implications of genetic technologies that enable manipulation of the human genome that may have future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied professionals who are not working within the field of genetics, to generate an interest in the subject and to guide readers in the direction of further, more detailed information. In producing this edition, the chapters on molecular genetics and its application to clinical practice have been completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been made to most other chapters so that they reflect current practice and knowledge, although some sections of the previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests. I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter 3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition. Helen M Kingston
Author: BMJ Books Publishing
Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.
A Practically Painless Review
Author: Christine M. Houser
Publisher: Springer Science & Business Media
In the last few years, dramatic advances in molecular biology have made it possible to analyze human genes directly, providing new insights into human molecular pathology and leading to techniques used for such procedures as the prenatal diagnosis of genetic disorders. Written for nonspecialists by an internationally-known expert, this unique book provides a clear introduction to the new genetics and an in-depth consideration of the impact this technology may have on the future practice of medicine. Weatherall describes recombinant DNA techniques and outlines how they are used to analyze genes; reviews what is known about the molecular pathology of human genetic diseases and about acquired disorders like cancer; and assesses how these methods might be used for preventive genetics and gene therapy. For this new edition, many of the illustrations have been redrawn and revised, and new figures added to clarify the discussion. The book will continue to be a valuable resource for doctors, nurses, and counselors who need to understand the new molecular tools available to them.
Author: D. J. Weatherall
Publisher: Oxford University Press, USA
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Author: Roger E. Stevenson,Judith G. Hall
Publisher: Oxford University Press
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
Author: Eberhard Passarge