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Book
New frontiers in rare disease research : a precision genetics approach to treating rare disease and disorders
Year: 2022 Publisher: [Cambridge, Mass.] Cell Press

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Keywords

Human genetics


Book
Our genes
Author:
ISBN: 1107170400 1316756327 1316767132 9781316767139 9781316756324 9781107170407 9781316621509 Year: 2022 Publisher: Cambridge Cambridge University Press

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Situated at the intersection of natural science and philosophy, Our Genes explores historical practices, investigates current trends, and imagines future work in genetic research to answer persistent, political questions about human diversity. Readers are guided through fascinating thought experiments, complex measures and metrics, fundamental evolutionary patterns, and in-depth treatment of exciting case studies. The work culminates in a philosophical rationale, based on scientific evidence, for a moderate position about the explanatory power of genes that is often left unarticulated. Simply put, human evolutionary genomics - our genes - can tell us much about who we are as individuals and as collectives. However, while they convey scientific certainty in the popular imagination, genes cannot answer some of our most important questions. Alternating between an up-close and a zoomed-out focus on genes and genomes, individuals and collectives, species and populations, Our Genes argues that the answers we seek point to rich, necessary work ahead.


Book
Genetic and functional evidence linking noncoding variants with neurodegenerative brain diseases : dissertation
Author:
Year: 2022 Publisher: Antwerp

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Book
Contribution of rare variants in ABCA7 to the genetic etiology of Alzheimer's disease : dissertation
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Year: 2022 Publisher: Antwerp

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Book
Genetics of Ocular Diseases
Authors: --- ---
ISBN: 9789811642470 9789811642463 9789811642487 9789811642494 Year: 2022 Publisher: Singapore Springer Nature Singapore :Imprint: Springer

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Book
Towards a better understanding of HINT1 neuropathy : genetic and functional profiling: dissertation
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Year: 2022 Publisher: Antwerp

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Multi
Zebrafish Model for Biomedical Research
Authors: --- --- ---
ISBN: 9789811652172 9789811652165 9789811652189 9789811652196 Year: 2022 Publisher: Singapore Springer Nature Singapore :Imprint: Springer

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This book provides the latest information on the significance of zebrafish as an ideal model for researching the biomedical field, with references. This book also focused on the evidence of zebrafish as a model in cardiovascular, neurologic, psychiatric and metabolic research. In addition, the book also includes the research carried out on zebrafish in hepatic, renal, ophthalmic, and ENT related areas. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish models including specific research in the area of skin disorders, endocrine diseases, nutritional disorders, gastrointestinal, hematological disorders and cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and its suitability for modeling various diseases, providing a critical resource on the potential attributes of the zebrafish as a pharmacological model. In terms of scope, this book is a useful tool for young researchers, professors and pharmaceutical scientists for understanding the significance of zebrafish as an emerging pharmacological model that can significantly aid in the process of drug discovery and development.


Multi
Anticipatory Ethics and The Use of CRISPR in Humans
Authors: --- ---
ISBN: 9783030983680 9783030983673 9783030983697 9783030983703 Year: 2022 Publisher: Cham Springer International Publishing :Imprint: Springer

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Can we move forward with the use of CRISPR in humans without a well-formed policy and ethical framework to support it? In this new book, neuroscientist Michael W. Nestor and philosopher Richard Wilson argue that the answer is a resounding "no." Does an ethical and policy program need to be restrictive concerning the use of CRISPR in humans? Nestor and Wilson argue that, although the future of gene editing in humans is inevitable using CRISPR technologies, the scientific, policy, ethics, and clinical communities must work together to provide the necessary frameworks to help CRISPR flourish as an essential tool to treat human disease. To achieve the most inclusive, equitable, and ethically sound use of CRISPR in humans, the scientific/policy/clinical community must involve the most comprehensive set of stakeholders possible, including the lay public. This book sets a framework for shared understanding and discussion across disciplines with an appeal to scientists and non-scientists alike. The authors urge all stakeholders to engage in active dialogue about the appropriate context for using CRISPR and other gene-editing technologies in humans. It provides policy analysis and recommendations for assuring the most inclusive, equitable, and ethically sound use of CRISPR in humans, exploring its positive potential to treat mental disorders and the potential to induce other cognitive enhancements.


Digital
Genetics of Substance Use : Research and Clinical Aspects
Author:
ISBN: 9783030953508 9783030953492 9783030953515 Year: 2022 Publisher: Cham Springer International Publishing

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The book illuminates the complex problems in genetic studies of substance use and addiction. It provides a comprehensive overview that fills the gap in the literature and points out future directions. The book includes three sections that apply to any complex traits and disorders, particularly psychological and psychiatric. The first section covers the traits and phenotypes that are the target of genetic research in substance use and addiction. Following this, the second section analyzes the methods and results of biometric genetic studies in this area. The third section reviews research in gene mapping and epigenetics. Genetics of Substance Use is a first-of-its-kind monograph that presents contemporary solutions and methods for a wide range of researchers and practitioners across disciplines. .


Digital
Genetics of Ocular Diseases
Authors: ---
ISBN: 9789811642470 9789811642463 9789811642487 9789811642494 Year: 2022 Publisher: Singapore Springer Nature

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The book focuses on describing the importance of genetics in eye diseases in a comprehensive and concise manner. Mutations in different set of genes have been detected and incriminated in complex mechanisms of causing leading eye diseases such as cataract and glaucoma. This book written by well-established ophthalmologists and geneticists presents a complicated subject in simple and easy to understand manner. Chapters cover the concept of gene therapy which is an emerging subject with high potential. The book includes a separate chapter on genetic counseling, which has become an integral component of ophthalmology. The book will assist the practicing ophthalmologists in early diagnosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations.

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