Aimed at medical students, genetic counsellors and clinical geneticists, this book provides the reader with a concise summary of post-genomic human genetics and guidance as to how our current understanding can be utilized in clinical practice. The book links genetics and clinical practice throughout using realistic case scenarios which are discussed throughout the book. Readers can take a problem-based approach to learning by working through each of the cases, or a more conventional approach by tackling each of the chapters in the order dictated by their course. The authors have based the book around the requirements of the NHS genetics education centre and the ASHG: which state that 'every physician who practices in the 21st century must have an in-depth knowledge of the principles of human genetics and their application to a wide variety of clinical problems'. The book benefits from a carefully designed format and layout to aid understanding. Each chapter includes self-assessment questions, separate boxes containing diagnostic methods and approaches, and common disease boxes. There are over 300 clinical photograph and figures, to further illustrate the points being discussed. Printed in full-colour throughout.

New Clinical Genetics, first edition

Science & Math

Read, Andrew

Donnai, Dian

Evolution

Scion Publishing, Ltd.

New Clinical Genetics is a best-selling medical genetics text written by two experts in the field. Uniquely the book fully integrates cases throughout - these are then reconsidered and expanded as the reader's knowledge increases. 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. 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. 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 Please note that an electronic version of this book is now available from kno.com 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

New Clinical Genetics, Second Edition

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

New Clinical Genetics, third edition

New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine.New Clinical Geneticsis used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approachwhich ties the science to real-life clinical scenarios to really aid understanding.Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking.Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders.The unique case-based structure and format remains the same, but substantial new material has been added to cover: <ul> <li>polygenic risk scores - now starting to become useful clinical service tools</li> <li>preimplantation diagnosis</li> <li>noninvasive prenatal diagnosis</li> <li>companion diagnostics for prescribed drugs</li> <li>liquid biopsies in cancer</li> <li>epigenetics and gene regulation</li> <li>the widespread use of next-generation sequencing as a routine diagnostic tool</li> <li>the checking of a patient's whole exome for the cause of their problem</li> </ul>

New Clinical Genetics, fourth edition

Un clairage nouveau. Que vous soyez gnticien, pdiatre, interniste, obsttricien, chographiste, tudiant en mdecine ou conseiller en gntique, ce livre vous apportera un clairage nouveau sur les mtiers de ta gntique mdicale. Se fondant sur des situations cliniques exemplaires, tes auteurs abordent successivement les bases fondamentales de la gntique humaine, indispensables pour comprendre ces pathologies, puis les techniques et les tests diagnostiques sophistiqus que l're post-gnomique a mis la disposition des praticiens. Chaque chapitre pose au lecteur une question fondamentale, telle que: Que nous apprend l'histoire familiale Comment nos gnes fonctionnent-ils Comment peut-on identifier une mutation dans l'ADN d'un patient Qu'est-ce que l'pigntique Faut-il rechercher les marqueurs de susceptibilit gntique aux maladies communes Comment peut-on soigner les maladies gntiques Les auteurs ont intgr harmonieusement des cas cliniques, ralistes dans leur complexit, et des donnes biologiques et technologiques. Ainsi, la thorie et les connaissances fondamentales sont-elles directement mises en relation avec leurs applications cliniques, au service du patient. Le livre peut tre abord de deux faons diffrentes. Grce un ingnieux systme d'onglets, ceux qui souhaitent une approche par problmes peuvent suivre transversalement l'histoire clinique d'un patient ou d'une famille, de chapitre en chapitre et trouver, dans les sections "Pour bien commencer" et "Pour aller plus loin" les donnes scientifiques correspondant au cas dont ils suivent la mise au point. Ceux qui prfrent une approche didactique classique progresseront de faon plus linaire : de l'tude familiale la cytogntique, la biologie molculaire puis l'pigntique et le cancer, pour finir par les approches thrapeutiques. A chaque tape, les cas cliniques mettront ces connaissances de base en perspective

Génétique médicale: De la biologie à la pratique clinique

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