罕见遗传疾病：诊断与治疗的进步

English | 2024 | ISBN: 9819993229 | 288 Pages | PDF EPUB (True) | 22 MB

This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.

这本书介绍了不同罕见遗传疾病（RGDs），以及它们诊断中的挑战。书中的章节讨论了罕见遗传疾病的诊断的新兴研究和临床方法。它进一步回顾了治疗罕见遗传病的基因疗法的未来，并审视了该领域在罕见遗传病诊断方面的最近进展。书中还涵盖了基因组中变异的作用，这些变异通过缓解（抑制）或加剧（增强）疾病严重性来减轻或加重症状表现的多样性。此外，本书探讨了对疾病机制进行深刻理解的不同动物模型的机会，在临床前研究中评估治疗化合物的效果。随后的章节展示了针对罕见遗传疾病的最先进的药物发现策略和生物方法。最后，这本书回顾了患者罕见遗传疾病诊断和治疗中的当前挑战以及未来机会。这本书适用于临床遗传学家、分子及生化遗传学家以及在基因疗法和基因编辑领域工作的研究人员。

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