This book presents recent advances in translational research on muscular dystrophy (MD) to physicians and researchers, including cutting-edge research on the disease such as regenerative medicine, next-generation DNA sequencing, and nucleic acid therapies. It also describes the current systems for clinical trials and MD patient databases, resources, which will support the early realization of clinical application and improve patients’ quality of life. MD is the one of the most widely known inherited neuromuscular diseases and is classified into diverse types by symptoms, age of onset, mode of inheritance, and clinical progression. With the development of molecular biology, the occurrence mechanisms of each type of MD are gradually being elucidated. Although there is no known permanent cure yet, the stage of treatment research has now advanced to clinical trials.
This volume contains the edited transcript of an interdisci plinary colloquium held at Totts Gap Medical Research Laboratories, Bangor, Pennsylvania on October 12-14, 1983 under the sponsorship of the Muscular Dystrophy Association. The aim was to illuminate the pathogenic mechanism of Duchenne Muscular Dystrophy through a synthesis of available data on gene expression in muscle. In the informal give and take ot the collo quium, the participants found themselves engaged in mutual education and enlightenment as they attempted to put together what is known and to highlight what is not known about the subject. Significant research into muscle as a tissue and muscle disease began only about 50 years ago although the description of muscular dystrophy by Guillaume Benjamin Amand Duchenne de Boulogne had been published in 1862. By 1943 it was clear that Duchenne muscular dystrophy was an X-linked genetic disorder. Up to the present, however, the offending gene has not been identified although its location on the short arm of the X chromosome has been approximately determined. The gene product associated with the initial disturbance in skeletal muscle has also remained elusive up to now. Moreover, investigations into the mechanisms of the muscle degeneration have been hampered by ignorance of the fundamental phenotypic expression of the genetic disorder.
Myotonic Dystrophy is one of the most variable of all human disorders. With age onset ranging from fetal life to old age, and with virtually all systems of the body affected in some way, it can present clinically to many types of specialist; not only the neurologist but also the cardiologist, ophthalmologists, gastroenterologist or endocrinologist. Up-to-date coverage of recent genetic developments Ensures clinical applications of genetic research are clearly understood Complete revision of clinical material - covers clinical management and integration of research into clinical practice High-quality illustrations throughout Simply and clearly written - even the layman will find this useful
There are 8 different known types of this disorder, and some Muscular Dystrophy can actually be discovered during pregnancy, according to HRF. This guidebook provides essential information on MD, but also serves as a historical survey, by providing information on the controversies surrounding its causes, and first-person narratives by people coping with MD. Patients, family members, or caregivers explain the condition from their own experience. The symptoms, causes, and treatments are explained in detail. Essential to anyone trying to learn about diseases and conditions, the alternative treatments are explored. Each essay is carefully edited and presented with an introduction, so that they are accessible for student researchers and readers.
The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new editionof Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise,physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention throughgenetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness. From reviews of 1st edition 'A family visiting a geneticcounsellor readied with information from this book would be well versed in the scope of concerns that can arise as families live with MD. I applaud the effort to make this care package of information available to families.' The American Journal of Human Genetics
Publisher: Karger Medical and Scientific Publishers
Genetically modified organisms (GMO) raise societal, political and ethical concerns. They inspire strong resistance or, conversely, enthusiastic assent. The aim of this publication is to give an overview of genetic engineering, starting with the history of the discovery of restriction enzymes continuing with technical aspects of transgenesis to its applications in research and ethical considerations. Be it the use of single engineered cells or GMO, these applications cover a broad array, ranging from disease-oriented research (but not only), to the promising perspectives of gene therapy. Historical and technical aspects give insights into the problems inherent to the creation of GMO, and illustrate the links and limits between genetic engineering, GMOs and gene therapy. A summary article in English and French structures the links between the different chapters and concepts. Scientists interested in genetic engineering of single cells or animal models, as well as in gene therapy, will find an up-to-date review on the use and perspectives of transgenesis. However, this publication is also recommended to the public interested in the definition of GMO, which encompasses a much broader array than the genetically modified crops covered by media.
Muscular Dystrophies—Advances in Research and Treatment: 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Muscular Dystrophies in a compact format. The editors have built Muscular Dystrophies—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Muscular Dystrophies in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Muscular Dystrophies—Advances in Research and Treatment: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
The most authoritative and comprehensive guide available to postgraduate grants and professional funding worldwide. For over twenty years The Grants Registe r has been the leading source for up-to-date information on the availability of, and eligibility for, postgraduate and professional awards. With details of over 3,000 awards, The Grants Register is more extensive than any comparable publication. Each entry has been verified by the awarding bodies concerned ensuring that every piece of information is accurate. As an annual publication, each edition also provides the most current details available today. The Grants Register provides an ideal reference source for those who need accurate information on postgraduate funding: careers advisors, university libraries, student organisations, and public libraries.
This book compiles and explores cutting-edge research in degenerative skeletal disorders, such as Duchenne muscular dystrophy and congenital myopathy, and new stem-cell based therapies and gene replacement therapy. Twelve expertly-authored chapters navigate the nuances of these treatments in an array of contexts and biological systems. The topics covered include: How are urine cells from a patient with Duchenne muscular dystrophy transformed into beating heart cells? What can reprogrammed cells tell us about heart muscle failure? What do gene mutations mean for those born with a muscle disease? How are manufacturing methods applied to human stem cells? Does therapeutic exercise benefit those patients who receive engineered limb muscle? Is there practical advice about nutrition to enhance muscle function for the Duchenne patient? Can microRNAs be useful to regenerate diseased muscle? Regenerative Medicine for Degenerative Muscle Diseases is ideal for scientists and clinicians from varying disciplines in genetics, cell biology, virology, cell-based manufacturing, rehabilitation medicine, nutrition, veterinary medicine and neurosurgery. The reader will see how transformative changes occur in medicine that can powerfully impact the future for patients suffering from inherited disorders affecting muscles of the body, including the heart.
In response to changing market needs, The Grants Register has been substantially revised from previous editions for this, its 15th edition. With increased student and professional mobility world-wide, coverage in The Grants Register has been extended from the English speaking world to the whole world, making it the only truly international guide of its kind. The number of awards has increased by 25% from the last edition, with all the information supplied directly by the awarding body. To improve ease of use, the layout and field structure has also been completely update. This has included the introduction of new fields on the level of study, individual eligibility and applications procedures as well as additional contact details such as email and World Wide Web addresses. The indexes have also been completely revised, with the introduction of an internationally recognised subject index which simultaneously incorporates a geographical guide to eligibility. An alphabetical list of awards will also be given. Now significantly extended, The Grants Register continues to be the only complete guide to awards and grants for postgraduates, young professionals, mature students and advanced scholars.