Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)

 Genetics  Comments Off on Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)
Mar 072020

This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists–and indeed one of the top clinical geneticists–in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin’s name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
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The Genetics and Development of Scoliosis

 Genetics  Comments Off on The Genetics and Development of Scoliosis
Mar 042020

The Genetics and Development of Scoliosisedited by Kenro Kusumi, Ph.D.Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, PhD Environmental Factors and Axial Skeletal Dysmorphogenesis Peter G. Alexander, Ph.D. and Rocky Tuan, Ph.D.Overview and Comparison of Idiopathic, Neuromuscular, and Congenital Forms of Scoliosis Benjamin Alman, M.D.Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses Peter D. Turnpenny, M.B.Ch.B.Spondylothoracic Dysostosis in Puerto Rico Alberto Santiago Cornier, M.D., Ph.D.Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis Philip F. Giampietro, M.D., Ph.D.Genetics and Functional Pathology of Idiopathic Scoliosis Nancy Hadley Miller, M.D.Current Understanding of Genetic Factors in Idiopathic Scoliosis Carol A. Wise, Ph.D. and Swarkar Sharma, Ph.D.Conclusion: Trends and Predictions for Genetic and Developmental Biological Research on Scoliosis Kenro Kusumi, Ph.D.
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Principles of Psychiatric Genetics

 Genetics, Psychiatry  Comments Off on Principles of Psychiatric Genetics
Feb 262020

Disorders of behavior represent some of the most common and disabling diseases affecting humankind; however, despite their worldwide distribution, genetic influences on these illnesses are often overlooked by families and mental health professionals. Psychiatric genetics is a rapidly advancing field, elucidating the varied roles of specific genes and their interactions in brain development and dysregulation. Principles of Psychiatric Genetics includes 22 disorder-based chapters covering, amongst other conditions, schizophrenia, mood disorders, anxiety disorders, Alzheimer’s disease, learning and developmental disorders, eating disorders and personality disorders. Supporting chapters focus on issues of genetic epidemiology, molecular and statistical methods, pharmacogenetics, epigenetics, gene expression studies, online genetic databases and ethical issues. Written by an international team of contributors, and fully updated with the latest results from genome-wide association studies, this comprehensive text is an indispensable reference for psychiatrists, neurologists, psychologists and anyone involved in psychiatric genetic studies.


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Molecular Genetics of Liver Neoplasia

 Genetics  Comments Off on Molecular Genetics of Liver Neoplasia
Feb 252020

Cancer is a genetic disease and cancer research is a broad discipline embracing investigators and clinicians with diverse backgrounds. This new edition of Molecular Genetics of Liver Neoplasia intends to provide a comprehensive view on genetics and a mechanistic understanding of liver cancer. The book covers from molecular pathogenesis and cellular origin to translational genomics of liver cancer. The leading experts in the field of liver cancer have thoroughly summarized the latest developments and have provided current viewpoints and novel concepts. This cutting-edge volume is a vital resource for today’s basic cancer researchers, graduate students, medical students and clinicians interested in hepatocarcinogenesis.
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Muscular Dystrophy : I’m Grateful I’ve Proved Them Wrong

 Genetics  Comments Off on Muscular Dystrophy : I’m Grateful I’ve Proved Them Wrong
Feb 162020

This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening.

It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited.

There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.



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Lashley’s Essentials of Clinical Genetics in Nursing Practice, Second Edition

 Genetics, Nursing  Comments Off on Lashley’s Essentials of Clinical Genetics in Nursing Practice, Second Edition
Feb 102020

Today’s nurses must be able to “think genetically” to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics.

The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a life-span approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on health care, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the life span, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patient’s genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructor’s package of PowerPoint slides and a test bank are provided.

New to the Second Edition:

– Completely updated

– Personal drug therapy based on genomics

– Environmental susceptibilities

– Prenatal detection and diagnosis

– Newborns and genetic screening

– Reproductive technologies

– Ethical issues

– Genetic therapies

– Epigenetics

– Includes content for graduate-level programs

– PowerPoint slides and a test bank for all student levels

Key Features:

– Encompasses state-of-the-art genomics from a nursing perspective

– Provides a practical, clinically oriented life-span approach

– Covers science, technology, and clinical application of genomics

– Addresses prevention, genetic testing, and treatment methods


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A Theory of Unborn Life: From Abortion to Genetic Manipulation

 Genetics  Comments Off on A Theory of Unborn Life: From Abortion to Genetic Manipulation
Feb 092020

In light of new biomedical technologies, such as artificial reproduction, stem cell research, genetic selection and design, the question of what we owe to future persons-and unborn life more generally-is as contested as ever. In A Theory of Unborn Life: From Abortion to Genetic Manipulation, author Anja J. Karnein provides a novel theory that shows how our commitments to persons can help us make sense of our obligations to unborn life. We should treat embryos that will develop into persons in anticipation of these persons. But how viable is this theory? Moreover, what does it mean to treat embryos in anticipation of the future persons they will develop into?
Exploring the attractiveness of this approach for Germany and the U.S. – two countries with very different legal approaches to valuing unborn life-Karnein comes to startling conclusions to some of today’s greatest ethical and legal debates. Under Karnein’s theory, abortion and stem cell research are legitimate, since embryos that do not have mothers willing to continue to assist their growth have no way of developing into persons. However, Karnein also contends that where the health of embryos is threatened by third parties or even by the women carrying them, embryos need to be treated with the same care due to the children that emerge from them. In the case of genetic manipulation, it is important to respect future persons like our contemporaries, respecting their independence as individuals as well as the way they enter this world without modification. Genetic interventions are therefore only legitimate for insuring that future persons have the necessary physical and mental endowment to lead independent lives so as to be protected from being dominated by their contemporaries. Evincing polarization and dogma, Karnein’s clean, philosophically-driven analysis provides a sound ethical foundation for the interpretation of any variety of legal dilemmas surrounding unborn life.


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Genetic Research on Addiction: Ethics, the Law, and Public Health

 Genetics  Comments Off on Genetic Research on Addiction: Ethics, the Law, and Public Health
Feb 072020

The manner in which genetic research associated with addiction is conducted, interpreted and translated into clinical practice and policy initiatives raises important social, ethical and legal issues. Genetic Research on Addiction fulfils two key aims; the first is to identify the ethical issues and requirements arising when carrying out genetically-based addiction research, and the second is to explore the ethical, legal and public policy implications of interpreting, translating and applying this research. The book describes research guidelines on human protection issues such as improving the informed consent process, protecting privacy, responsibilities to minors and determining whether to accept industry funding. The broader public health policy implications of the research are explored and guidelines offered for developing effective social interventions. Highly relevant for clinicians, researchers, academics and policy-makers in the fields of addiction, mental health and public policy.
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Beyond Our Genes: Pathophysiology of Gene and Environment Interaction and Epigenetic Inheritance

 Genetics  Comments Off on Beyond Our Genes: Pathophysiology of Gene and Environment Interaction and Epigenetic Inheritance
Feb 052020

The genotype/phenotype dichotomy is being slowly replaced by a more complex relationship whereby the majority of phenotypes arise from interactions between one’s genotype and the environment in which one lives. Interestingly, it seems that not only our lives, but also our ancestors’ lives, determine how we look.
This newly recognized form of inheritance is known as (epi)genetic, as it involves an additional layer of information on top of the one encoded by the genes. Its discovery has constituted one of the biggest paradigm shifts in biology in recent years. Understanding epigenetic factors may help explain the pathogenesis of several complex human diseases (such as diabetes, obesity and cancer) and provide alternative paths for disease prevention, management and therapy.
This book introduces the reader to the importance of the environment for our own health and the health of our descendants, sheds light on the current knowledge on epigenetic inheritance and opens a window to future developments in the field.



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Born and Made: An Ethnography of Preimplantation Genetic Diagnosis

 Genetics  Comments Off on Born and Made: An Ethnography of Preimplantation Genetic Diagnosis
Feb 022020

Are new reproductive and genetic technologies racing ahead of a society that is unable to establish limits to their use? Have the “new genetics” outpaced our ability to control their future applications? This book examines the case of preimplantation genetic diagnosis (PGD), the procedure used to prevent serious genetic disease by embryo selection, and the so-called “designer baby” method. Using detailed empirical evidence, the authors show that far from being a runaway technology, the regulation of PGD over the past fifteen years provides an example of precaution and restraint, as well as continual adaptation to changing social circumstances. Through interviews, media and policy analysis, and participant observation at two PGD centers in the United Kingdom, Born and Made provides an in-depth sociological examination of the competing moral obligations that define the experience of PGD.

Among the many novel findings of this pathbreaking ethnography of reproductive biomedicine is the prominence of uncertainty and ambivalence among PGD patients and professionals–a finding characteristic of the emerging “biosociety,” in which scientific progress is inherently paradoxical and contradictory. In contrast to much of the speculative futurology that defines this field, Born and Made provides a timely and revealing case study of the on-the-ground decision-making that shapes technological assistance to human heredity.


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