New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is 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 approach which 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: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation 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

"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 This first edition has been superseded by a new edition, launched October 2010.

HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS! 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 Human Genetics

Das Buch vermittelt umfassendes, anwendungsorientiertes Wissen im Bereich Humangenetik. Aufgrund der Autorenschaft von Andrew Read u. Dian Donnai wurde das Fach von wissenschaftlicher und klinischer Perspektive beleuchtet. Insbesondere durch 27 authentische Fälle, die in sämtlichen Kapiteln immer wieder aufgegriffen werden, wird der Lernstoff lebendig und auch spannend dargestellt. Der Leser kann sich in einzelne Patientengeschichten hineinversetzen und erwirbt das relevante Wissen aus einer quasi-realen Situation heraus. Das molekularbiologische und genetische Hintergrundwissen wird didaktisch sehr anschaulich in Exkursen und Hintergrundkapiteln beschrieben. Auch die renommierten Autoren, die zahlreichen fantastischen Abbildungen, der einmalige didaktische Aufbau und die Überprüfungsfragen (mit Antworten) verhalfen dem Titel zur Platzierung auf den Listen zahlreicher führender Universitäten - darunter Harvard Medical School - in Großbritannien und den USA. Das Fach Humangenetik hat an Bedeutung gewonnen, was auch durch die dessen Aufwertung zum Prüfungsfach in der neuen Approbationsordnung für Ärzte erkennbar ist. Aber auch bei Pädiatern u.Gynäkologen ist zunehmendes Interesse zu verzeichnen, da mit dem Alter der Eltern das Risiko für genetische Anomalien des Kindes steigt und dementsprechendes Wissen erwartet wird. Das Lehrbuch erklärt u. a. genetische Grundlagen, Stammbaumanalyse, Chromosomen, DNA, Mutationen, Epigenetik, Populationsgenetik und Krebs. Die Herausgeber der Lizenzausgabe - Prof. Zschocke (Heidelberg) u. Prof. Riess (Tübingen) sind ihrerseits internationale Kapazitäten des Fachgebietes. Sie haben die Übersetzung den deutschen Verhältnissen angepasst und auch einen zusätzlichen Fall zur Sterilität eingefügt.

La Génétique Médicale du 21e siècle ne se contente plus de décrire des phénotypes : elle les explique, les anticipe, et se met à espérer les corriger. En 14 chapitres, les auteurs dressent le panorama de la génétique médicale, du conseil génétique aux maladies multifactorielles, de la médecine prénatale à la Cancérologie. Leur approche est délibérément orientée vers la pratique clinique et ses difficultés : chaque chapitre fait le lien entre les avancées de la biologie fondamentale, celles des techniques de laboratoire et de leurs conséquences en pratique clinique. Le texte s’appuie sur de très nombreux exemples concrets et cas pratiques qui mettent la Génétique Médicale en perspective : complexité technologique, difficultés d’interprétation, problèmes éthiques. Cet ouvrage s’adresse aux étudiants de 2e cycle, aux spécialistes en formation ou confirmés, et plus généralement à tous ceux qui s’interrogent sur cette discipline mal connnue qu'est la Génétique Médicale.