Dana Creighton and her mother both were affected by the same inherited cerebellar degeneration, known as ataxia--a loss of control over body movements. Both were treated by a healthcare system that failed them in different ways. Yet their experiences with ataxia were disparate. Where Creighton eventually found the right tools to piece together meaning and purpose in her life, her mother resisted accepting the reality of her condition, in part because doctors repeatedly said nothing was wrong with her. Twenty-five years after her mother's suicide, Crieghton's memoir finds striking similarities and differences in their lives and traces a lineage of family trauma. Drawing on research in neuroplasticity, medical records, personal correspondence and genealogy, her narrative highlights the gap between the lived experience of debilitating ailment and the impersonal aims of clinicians, and shows how the stories parents tell themselves about living with a genetic disorder influences how they communicate it to their children.

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients' genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

'Congenital Heart Disease in the Right Heart' is an exhaustive review of the malformations of the right ventricle with particular emphasis on the ability of the ventricle to support circulation and the results of right heart malformations on circulation. Edited by the world's foremost authorities on the subject, the book benefits from an international team of contributors.

This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases "Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies," held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on dif- sion of science to the society of the Catedra Santiago Grisolia and the Fundacion Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than 200 inter- tional scientists from different countries of Europe, the USA, and Australia attended the meeting. The venue was the Auditorium of the Science Museum Principe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: "It has been estimated that more than one person in every 3,000 has a serious disabling inherited n- romuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identi ed and studied. The detection of preclinical disease, the identi cation of heterozygous carriers and prenatal di- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant."

Eine Entdeckungsreise durch Gene, Genome und Verwandtschaften

Ist unsere Personlichkeit ererbt oder geschaffen? Was verrat die Erbsubstanz DNA uber die Geschichte des Menschen? Welche Bedeutung hat das Klonschaf Dolly? Und werden wir schon bald Designerbabys nach Wunsch bestellen?

In 50 klaren und unterhaltsamen Essays destilliert Mark Henderson, Wissenschaftsredakteur der Times, die zentralen Konzepte der noch jungen Wissenschaft Genetik heraus. Indem er den Bogen von Darwins Theorie der Evolution und Mendels Kreuzungsexperimenten bis zu den jungsten, oft kontroversen, wissenschaftlichen Fortschritten dieser Disziplin schlagt, zeigt er auf, wie sehr die Kenntnis der genetischen Maschinerie unser Verstandnis vom Leben auf der Erde verandert hat.

Voller Beispiele aus dem Alltag, erhellender Zitate und anschaulicher grafischer Darstellungen entfaltet 50 Schlusselideen Genetik ein breites Panorama. Das Buch

• vermittelt ein Bild von der Entstehung und Entwicklung des Lebens, indem es zunachst die Geheimnisse der Chromosomen und der DNA wie auch des menschlichen Genoms aufdeckt
• erlautert, wie durch die Wechselwirkung von Erbe und Umwelt unsere Personlichkeit geformt wird
• offenbart, wie die Genetik uns beim Kampf gegen Krebs, AIDS, Malaria und resistente Keime helfen kann
• erkundet die weitreichenden ethischen Fragen um so kontroverse Themen wie Stammzellforschung, Klonen und die Moglichkeit kunstlichen Lebens
• erhellt die jungsten Erkenntnisse zu DNA-Schrott, Evo Devo und Epigenetik und wagt einen Blick in die Zukunft der menschlichen Rasse

Leicht verstandlich, informativ und absolut faszinierend, liefert das Buch nicht nur einen aktuellen Uberblick uber diesen bedeutsamen Wissenschaftszweig, sondern lasst auch erkennen, was jeden von uns so einzigartig macht.

• Die Evolutionstheorie
• Die Vererbungsgesetze
• Gene und Chromosomen
• Die Genetik der Evolution
• Mutationen
• Sex
• Gene, Proteine und DNA
• Die Doppelhelix
• Entschlusselung des genetischen Codes
• Genmanipulation
• Das Lesen des Genoms
• Das menschliche Genom
• Lektionen des Genoms
• Genetischer Determinismus
• Egoistische Gene
• Das unbeschriebene Blatt
• Erbe und Umwelt
• Erbkrankheiten
• Die Jagd nach den Genen
• Krebs
• Superkeime
• Verhaltensgenetik
• Intelligenz
• Rasse
• Genetische Urgeschichte
• Genetische Stammbaumforschung
• Geschlechtsspezifische Gene
• Das Ende der Manner?
• Der Kampf der Geschlechter
• Homosexualitat
• Genetische Fingerabdrucke
• Transgene Pflanzen
• Transgene Tiere
• Evo Devo
• Stammzellen
• Klonen
• Menschen klonen
• Gentherapie
• Gentests
• Mageschneiderte Medikamente
• Designerbabys
• Schone neue Welten
• Gene und Versicherungen
• Patentierung von Genen
• Junk-DNA
• Kopienzahlvarianten
• Epigenetik
• Die RNA-Revolution
• Kunstliches Leben
• Die Illusion der Normalitat

This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of 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 and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases.

Bringing together the most up-to-date information on congenital Mullerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field's current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Mullerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.

Frank Nawroth thematisiert das Social Freezing und die zugehoerige Beratung, die nicht nur Chancen, sondern auch denkbare Komplikationen und Grenzen der Methode aufzeigen muss. Zum Beispiel haben die gesellschaftspolitisch nicht optimal geloeste Problematik des moeglichen Karriere-Nachteils einer berufstatigen Mutter oder die haufig bestehende Schwierigkeit, den geeigneten Partner zu finden, bei gleichzeitig verbesserten Kryokonservierungsmethoden dazu gefuhrt, dass Frauen ohne medizinische Indikation uber das Einfrieren ihrer Eizellen nachdenken. Die Technologie selbst ist seit Langerem Routine vor fertilitatsbeeintrachtigenden Therapien onkologischer Erkrankungen (Operation, Strahlen- und/oder Chemotherapie) im reproduktiven Alter.

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

This book is devoted solely to the tricuspid valve and its role in congenital heart disease. Tricuspid valve anomalies are part of the pathological spectrum in various congenital heart diseases, including Ebstein anomaly and tricuspid valve dysplasia, with different pathophysiology and clinical implications. This book covers all relevant aspects of such anomalies, including diagnosis, therapy and follow-up. Further topics addressed include the way in which the tricuspid valve may become the "systemic" valve in some congenital diseases, with important consequences and the involvement of the tricuspid valve in the right-sided heart complications often seen in adults with congenital heart disease. All of the chapters are written by internationally recognized experts and are designed to deliver state of the art knowledge of practical value. This book will be an important addition to the library for surgeons, cardiologists and other practitioners involved in the management of patients with congenital heart disease.

Antibiotika-resistente Bakterien und fehlende Antibiotika gefahrden zunehmend die erfolgreiche Behandlung von bakteriellen Infektionskrankheiten. Diese Stellungnahme beschreibt den unbefriedigenden Status Quo in der Entwicklung neuer Antibiotika und gibt auf breiter Basis Empfehlungen fur Loesungsansatze in Forschung, Politik und Gesellschaft.

Die arterio-venosen Anastomosen, welche als nichtkapillare, unmittelbare Verbindungen zwischen der arteriellen Hochdruck-und der venosen Niederdruck- leitung unter den Sondereinrichtungen in der peripheren Strombahn zweifellos eine besonders bedeutsame Rolle spielen, sind bis zu dem Erscheinen der ersten Auflage vorliegender Monographie (Verlag J. A. Barth, Leipzig, 1939) vorzugsweise Gegenstand anatomischer Untersuchungen gewesen, haben aber seitdem auch von physiologischer, pathologischer und klinischer Seite eine zunehmende Beachtung gefunden, wie die zahlreichen Aussagen uber Vorkommen und Funktion dieser derivatorischen GefaBabschnitte zeigen. Die in dem letzten J ahrzehnt gelungene Aufdeckung von neuen Fundorten und von verschiedenen Bauformen der arterio-venosen Anastomosen sowie die Beobachtung, daB an den Orten ihres regelmaBigen Vorkommens vielfach GefaB- organe ausgebildet sind, die zwar aIle histologischen Merkmale epitheloidzelliger Nebenschlusse besitzen, aber keine unmittelbaren Verbindungen zwischen Arterien und Venen, sondern organartig gebaute prakapillare Strecken der arteriellen Strombahn sind, haben eine weitgehende NeuGBPassung der Darstellung notwendig gemacht. Unsere Kenntnisse von der funktionellen Bedeutung der arterio-venosen Anastomosen stecken ungeachtet aller Bemuhungen noch immer sozusagen in den Kinderschuhen; hat die Auffassung, daB aIle derartigen GefaBverbindungen durch die gleichen Baueigentiimlichkeiten gekennzeichnet sind, aufgegeben werden mussen, so stellt sich damit andererseits die Frage nach der funktionellen Rolle der verschiedenen Bauformen, welche bis heute keineswegs befriedigend beantwOl"tet werden kann.

Il dolore cronico vulvare, o vulvodinia, e una patologia diffusa che puo avere un forte impatto sul benessere della donna. Nonostante sia frequentemente osservata nella pratica clinica quotidiana, resta un disturbo trascurato e puo richiedere anche molti anni per essere correttamente

diagnosticato. Il volume offre un panorama conciso delle ultimissime acquisizioni sulla diagnosi e la cura della vulvodinia e delle sue numerose comorbilita, ha un formato facile da leggere, con molti consigli pratici, e aiuta ad affrontare rapidamente ed efficacemente tutte le complesse e delicate problematiche

che sottendono il disturbo. Questo libro si rivolge ai medici motivati a migliorare la qualita di vita delle donne che soffrono di vulvodinia, e in particolare ai Ginecologi e ai Medici di Medicina Generale.

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

There is growing acknowledgement of the importance of interpersonal and communication skills in the training of future physicians. Effective diagnostic and clinical management skills require competency in observing, listening, communicating, problem-solving and negotiating. In addition, the physician needs human relationship skills. It is apparent that a systematic curriculum is needed to teach these clinical skills to medical students and trainees and this handbook provides a practical guide. Each chapter in this book discusses one of the clinical skills in depth. A unique feature of this book is the use of concepts developed in several other disciplines. For example, ideas to learn listening skills are borrowed from industrial management literature. The other unique feature is the inclusion of practical exercises to learn and teach each of these skills. The Appendix outlines ideas on how to organize a course on clinical competency skills and includes a few exercises to start discussion groups. This practical manual is a resource for training of future physicians for competency in the art and practice of medicine. Ideas expressed in this book have been developed, tested and improved over a period of 25 to 30 years with input from trainees and medical practitioners.

Congenital Heart Defects, or CHDs, are the most frequently occurring birth defect. In the US alone, over 25,000 babies are born each year with some form of CHD. In the last 20 years, medical advances and new surgical procedures have dramatically decreased the mortality rate of these abnormalities and led to a better understanding and treatment of CHDs in adults. This definitive work on the subject covers all aspects of CHD, under the editorship of a leading geneticist, cardiologist, and public health physician, and features contributions from 60 major authorities in the field. Coverage includes a broad range of topics on the development, epidemiology, genetics, diagnosis, management, prevention, and public health issues of CHDs. This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals with CHDs.

This book on Hirschsprung's disease (HD) contains a complete update on the various aspects of this disease. It is the collaboration of an international group of paediatric surgeons well-known in their fields who are experts in this pathology and of other prestigious professionals -- neurobiologists, physiologists, geneticists, paediatricians, and histopathologists. Over the course of 28 chapters, these authors describe the latest advances in the diagnosis and treatment of this pathology. The first part is an update of the anorectal physiology, pathophysiology, genetics, and histopathology. The second part deals with the clinical manifestations and diagnosis in the new-born, with especial reference to manometric diagnosis during the neonatal period and to the morphological and radiological study. Other important chapters are devoted to differential diagnosis, preoperative care, indications for ostomy, and preparing the child for the pull-through. The third part describes the various classical surgical options (Swenson, Duhamel, Soave, Rehbein), and the new methods using laparoscopy and transanal pull-through, which have been the major breakthrough in the treatment of this condition. Total colonic aganglionosis and the critical review of the different surgical techniques occupy two magisterial chapters. The fourth part comprises an extensive exposition of enterocolitis in HD, the long-term results following surgery, other variants of HD, and two novel chapters in treatises on this disease (intestinal transplants and nutrition). In the Annex, parents of children with this disease describe their experience. The book ends with a final chapter devoted to informed consent. This book will be an invaluable reference for paediatric surgeons and paediatricians and gastroenterologists, and has a special interest for parents of children with Hirschsprung's disease.

Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it.
When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals, and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct "type 2 myotonic dystrophy," which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worlwide research.
New to this edition are "Key Facts" at the beginning of each chapter, "Frequently Asked Questions" boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.

Jahrlich werden in Deutschland ca. 1.000 kunstliche Befruchtungen durchgefuhrt (sog. heterologe kunstliche Befruchtung). Insbesondere der Samenspender, aber auch alle anderen beteiligten Personen gehen dabei ein rechtliches Risiko ein - haufig ohne es zu wissen. Die Autorin entwickelt Moglichkeiten der zivilrechtlichen Haftungsfreistellung des Samenspenders und stellt ihre Alternative vor: die "rechtsfolgenlose Vaterschaftsfeststellungsklage." "

Cosa si prova a non poter avere un figlio? Quanto e difficile comunicare alla coppia una diagnosi di sterilita? Come affrontare il 70% dei fallimenti delle tecniche di PMA? Come una legge puo' incidere sul futuro di un embrione? Il testo, nato dalla fusione multidisciplinare medica, psicologica e sociologica, vuole riflettere su queste domande e accompagnare il lettore in una nuova forma mentis sulle criticita nella fecondazione assistita. La trama scientifica si accompagna a un linguaggio diretto dove hanno un posto rilevante le emozioni, cosi' centrali in campi quali la ginecologia, la riproduzione e la psicologia dell'infertilita, che vanno al cuore del bisogno psico-sessuale piu forte e arcaico: quello riproduttivo. Al centro del volume e la relazione medico-paziente che, nel campo dell'infertilita, e caratterizzata dall'attivazione di forti echi emotivi da parte di entrambi. Il volume, a tale riguardo, propone il protocollo SAHARAI che comprende due metodi inediti (il questionario e il nurse-ring) capaci di intervenire, rispettivamente, nella fase diagnostica e in quella terapeutica della fecondazione. I metodi e le riflessioni proposti sono volti alla riduzione dei disagi psicologici delle coppie e al riequilibrio del rapporto medico-paziente. Dal testo emerge forte una nuova idea di formazione per gli operatori dei centri di fecondazione assistita e un percorso di qualificazione per le nuove figure professionali (gli psicologi addetti alla PMA) in accordo con le nuove direttive della legge."

A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation. Comprehensive and up-to-date, Genetics and Genomics of Neurobehavioral Disorders integrates the molecular, genomic, neuropsychological, and neurobehavioral factors that produce learning disabilities and mental retardation into a coherent framework for the understanding and assessment of neurobehavioral disorders.

Die moderne Reproduktionsmedizin wird oftmals als letzte Chance von Partnern ausgewahlt, um ihren starken, bisher unerfullten Wunsch nach einem eigenen Kind einzuloesen - ungeachtet dessen, dass sie oeffentlich sehr kontrovers diskutiert werden und haufig auf grosse Ablehnung stossen. Die Teilnahme an einer Reproduktionsbehandlung ist kostenintensiv: Zusatzlich zu den finanziellen Kosten der medizinischen Behandlung kommen noch weitere subjektive Kosten hinzu, so z.B. ein erheblicher Zeitaufwand wahrend der Fertilisierungstherapien oder aber auch das Ertragen koerperlicher und psychischer Belastungen. Die vorliegende Arbeit erforscht die Einstellung der Betroffenen zur Reproduktionsmedizin und was sie mit einem Kind verbinden. Daruber hinaus wird erforscht, wie die ungewollt kinderlosen Partner die koerperlichen, psychischen und finanziellen Belastungen erleben und bewerten.

Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.

Die medizinische Behandlung der ungewollten Kinderlosigkeit wird hierzulande nach wie vor mit einer Mischung aus Interesse am medizinisch-technischen Fortschritt und Sorge uber die mogli- cherweise nicht mehr kalkulierbaren Risiken dieses Fortschrittes betrachtet. Die Reaktionen reichen dabei von der implizi ten Gleichsetzung konkreter Formen der Reproduktionsmedizin mit den fiktiven Verhaltnissen in der 'Schonen Neuen welt'1, bis hin zu Einschatzungen, wonach sich die Reproduktionsmedizin in naher Zukunft als ein unverzichtbares Instrument bei der Bekampfung eines langandauernden Bevolkerungsruckganges in der BRD erweisen 2 werde. Auch wenn sich in den letzten 5-10 Jahren das Interesse der Offentlichkeit verstarkt den verschiedenen Formen der medizini- 3 schen Behandlung ungewollter Kinderlosigkeit zugewandt hat, so scheint mit diesem verstarkten Interesse kein Anstieg der Anzahl Der Vergleich des heutigen Potentials der Reproduk- tionsmedizin mit den Schilderungen der industriellen Erzeugung von Menschen in A. Huxleys Roman "Schone Neue Welt" gehort zu den Standardbildern in weiten Teilen der Literatur uber die medizinische Behandlung der ungewollten Kinderlosigkeit. So z.B. auch bei: Hirsch, G. und Eberbach W. (1987): Auf dem Weg zum kunstlichen Leben - Retortenkinder, Leihmutter, pro- grammierte Gene Basel, Boston, Stuttgart. S.31ff. 2 So ein Reproduktionsmediziner in der Fernsehsendung 'Explosiv' (RTL 22.5.'91). 3 Man denke z. B. nur an die Kontroversen im Zuge der Erarbeitung des Embryonenschutzgesetzes, an die Richt- linien zur Durchfuhrung der In-vitro-Fertilisation der Bundesarztekammer, an die Initiativen auf dem 56.