Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. PGD is now entering its third decade as an established procedure for genetic and assisted reproduction practices, with new and exciting developments changing the whole concept of prevention of congenital disorders. The availability of practical experience from tens of thousands of PGD cases makes it necessary to update the current information on its accuracy, reliability and safety.
The Second Edition of this successful book updates the progress in prevention of genetic disorders to demonstrate the important place of PGD in primary preventive measures and its increasing role in providing the whole range of reproduction options to couples at risk. In addition, it provides an extensive review of the most recent developments within the field of PGD including, PGD for expanding indications such as de novo mutations, cancers, inherited cardiac diseases and combined PGD for single gene disorders, HLA typing and 24 chromosome testing in patients of advance reproductive age.
This practical book is vital for all practitioners within the field of fertility, reproductive medicine and medical genetics. It will also be useful for those responsible for planning and organizing PGD services and provides a working manual for the establishment and performance of PGD in the framework of IVF and genetic practices.
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Ever since the international Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome—with far-reaching implications for understanding the causes and diagnosis of human genetic disorders—progress in the field has been rapid. In the fourth edition of the bestselling Color Atlas of Genetics, readers will get a full overview of the field today, with an emphasis on the interface between fundamental principles and practical applications in medicine. The book utilizes the signature Flexibook format designed for easy visual learning and retention, and is invaluable for students, clinicians, and scientists interested in keeping current in this fast-moving area.
New topics in the fully revised fourth edition of this highly praised atlas:
Genetic signaling pathways involved in genetic disorders
DNA repair systems
Genomic disorders and genome-wide association studies
Ciliopathies, neurocristopathies, and other groups of causally related disorders
Epigenetic changes in certain disorders
Illustrated outline of human evolution
With almost 200 stunning color plates concisely explained on facing pages, and including useful tables of data, a glossary of terms, key references, and online resources, this book makes every concept clear and accessible. It is an excellent introduction to genetics and basic genomics for students of medicine and biology, as well as an ideal teaching aid and refresher for investigators in any field of medicine or science.
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Preimplantation genetic diagnosis (PGD) is a key technique in modern reproductive medicine. Originally developed to help couples who were at risk of transmitting single-gene genetic abnormalities to their children, the development of the FISH technique broadened chromosome analysis to include detection of more complex inherited abnormalities. The last decade has seen the development of aneuploidy screening (PGS) for infertile couples, using the same techniques as PGD but screening for as many chromosomes as possible. PGD has always been a controversial procedure and embryo manipulation and selection is still illegal in some countries. The second edition of this leading textbook describes all aspects of PGD, with chapters written by key international experts in the field. A must for anyone interested in learning more about PGD, it will be of interest to everyone working in the fields of IVF, genetic diagnosis, genetic counselling, and prenatal diagnosis – including clinicians, embryologists, nurses, and clinical scientists.
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The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions.
A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.