دانلود کتاب ژنتیک و ژنومیک در پزشکی تامپسون

We agreed somewhat reluctantly to take on the assignment to be three new editors for the 9th Edition of the acclaimed Genetics in Medicine, which has been in circulation since 1966. Our hesitancy had nothing to do with a looming pandemic, about to throw up major obstacles (work and life) along the way. Nor did it have to do with the scope of work sure to be involved. Our uncertainty really had to do with doubts that we could ever deliver a book to the standards of the founding authors, James S. Thompson (1919-1982) (Editions 1-3) and Margaret W. Thompson (“Peggy”) (1920-2014) (Editions 1-5), and their successors (Editions 6-8), Roderick McInnes (Edition 5 with Peggy Thompson) and later Editions 6-8), Robert Nussbaum (Editions 6-8), and Huntington Willard (Editions 5-8). We also worried how we three alone could cover the immense body of literature in medical genetics and genomics that had arisen over the period since the 8th Edition was released. We took the time-tested approach of “standing on shoulders”, changing little of the book’s well-covered and well-written core principles of medical genetics. Technologies have been more of an evolving component. When we did make edits, we drew from our own knowledge in the field, scrutinized the literature and databases (some of which we oversee), and consulted experts. Even as we ourselves had done, some of these experts had contributed to earlier editions, but for many it was a new experience. The expressions of gratitude at being asked to be part of the initiative spoke to the status this book still holds in the professional community. For the first time, we credit these contributions through co-authorship or specific acknowledgement—something we thought was right to do. At the same time, we and they acknowledge the foundations laid out by the contributors to earlier editions. To this version of what the field endearingly calls “Thompson and Thompson”, we have amended some evolving content, including: (1) moving from the study of genes to genomes in biology and testing, (2) increasing awareness of copy number and structural genomic variation in both the population and medical genomic context, (3) novel discoveries and application of the functional roles of non-coding RNAs, chromatin-regulation and epigenetics, and how their dysregulation can affect gene expression in disease, (4) genetic variation in worldwide populations, (5) latest technologies (e.g., genome sequencing) and statistical/informatics approaches, such as polygenic risk scores, used to resolve and interpret them, and (6) the many new genetic diagnoses arising from application of these new principles and technologies (for example, genomic syndromes and ciliopathies). Each chapter still closes with questions that challenge the reader to consolidate the material into practice, perhaps in preparation for exams, along with comprehensive answers. The highly popular Clinical Cases—first introduced in the sixth edition to demonstrate the general principles of inheritance, pathogenesis, diagnosis, management, and counseling—were entirely updated or expanded with input from yet more experts. They capture the challenges of variable expression, pleiotropy, and complex disorders as they present to medical genetics practitioners in the field. We are most proud of our efforts to portray this edition of Genetics in Medicine, now Genetics and Genomics in Medicine through the lens of a society that has changed drastically in how it accesses, interprets, and communicates information. Simply put, genetics is an information science: the DNA, RNA and proteins, and their networks and combinations, underlie our biology in health and disease. We made every attempt to capture the new knowledge from beyond the central dogma, but perhaps more importantly, we strove to contextualize the information as both medicine and society now want it to be applied. For example, to update some of the illustrations of genetic conditions, we asked the not-for-profit organization, Positive Exposure, to contribute photographs from their portfolio of volunteers. The organization works with various genetics support groups to present individuals living with their genetic differences in ways that are respectful, inclusive, and frankly beautiful. Where names are used, it is at their request. We also incorporated updated guidelines for language and terminology, notably for words such as race, ethnicity, polymorphism, and mutation (the term “mutation” at time of writing was used ~590 times in this edition and over 1000 in the last!). We also included new sections describing the use (and need for) genetic information in the study of unique indigenous and founder populations. The publishers have also continued to enhance the accompanying eBook version which by expanding the search options of all the text, figures, and references on a variety of devices.