This book focuses on the emerging role of ferroptosis in human diseases. It gives a detailed perspective on how to induce or suppress ferroptosis to treat challenging conditions such as infectious diseases, including COVID-19, tuberculosis, parasitic diseases and cancer. The book serves as a practical guide by providing a valuable collection of all currently known activators or inhibitors of ferroptosis. It will enable readers to choose molecules for experimental design for in vitro and in vivo studies of ferroptosis. Furthermore, this volume highlights the aspects of iron metabolism and its connection to ferritinophagy, a ferritin selective autophagy, with profound implications in neurodegenerative diseases such as Alzheimer, Parkinson, Huntington and ALS. Lastly, it describes necroptosis, another important form of cell death, along with its connections to human disorders and potential crosstalk with ferroptosis. While covering basic concepts, the book delves into mechanisms and modulation of ferroptosis for treating a wide variety of human diseases thus offering a valuable and informative resource for both, scientists and clinical researchers.

This volume presents techniques needed for the study of long non-coding RNAs (lncRNAs) in cancer from their identification to functional characterization. Chapters guide readers through identification of lncRNA expression signatures in cancer tissue or liquid biopsies by RNAseq, single Cell RNAseq, Phospho RNAseq or Nanopore Sequencing techniques; validation of lncRNA signatures by Real time PCR, digital PCR or in situ hybridization; and functional analysis by siRNA or CRISPR based methods for lncRNA silencing or overexpression. Lipid based nanoparticles for delivery of siRNAs in vivo, lncRNA-protein interactions, viral lncRNAs and circRNAs are also treated in this volume. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols. Authoritative and practical, Long Non-Coding RNAs in Cancer aims to provide a collection of laboratory protocols, bioinformatic pipelines, and review chapters to further research in this vital field.

This second edition explores techniques involving pseudogenic DNA, RNA, and proteins. Chapters describe how to identify pseudogenes and how to study the functions and alterations of pseudogenic RNA and proteins, both in vitro, and in vivo. Written in the highly successful Methods in Molecular Biology series format, methodological chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting while avoiding known pitfalls. Authoritative and cutting-edge, Pseudogenes: Functions and Protocols, Second Edition aims to be a practical guide to researches, useful to help further their study in this field.

The book provides an in-depth and comprehensive overview of the essential role of non-coding RNAs (ncRNAs) in bone formation. In combination with researches from multiple scholars in this field, the book reviews the mechanisms of ncRNA-related bone diseases, as well as the potential applications of RNA synthesis technology in bone disorder treatments. This volume covers the following topics: 1) basic introduction of non-coding RNA and bone development, how 2) microRNAs and 3) long noncoding RNAs (LncRNAs) regulate bone formation, 4) how ncRNAs and the corresponding pathways participate in bone metabolism diseases, 5) RNA synthesis technology and the possible RNA therapies in bone disease. Researchers and students in the fields of human genetics, human physiology, developmental biology and biomedical engineering, as well as professionals and scientists in Orthopedics, will particularly find this book helpful.

Chromatin is of central importance to gene regulation in eukaryotes. Reflecting this singular role for chromatin, numerous approaches have evolved in the laboratory over the past three decades to study chromatin structure and its alterations. Methods of investigating chromatin remodeling, whether in changes in nucleosome structure or position with respect to the incorporated DNA or in histone modifications, have progressed rapidly over the recent years. In Chromatin Remodeling: Methods and Protocols, expert researchers contribute chapters which include methods for investigating chromatin remodeling in vitro and in vivo, in yeast, plants, and mammalian cells, and at local and global levels. Both gene-specific and genome-wide approaches are covered, and in recognition of the increasing prevalence of the latter type of study, the final two chapters focus on bioinformatic/computational approaches to analyzing genome-wide data on chromatin structure. Written in the highly successful Methods in Molecular Biology (TM) series format, the chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and essential, Chromatin Remodeling: Methods and Protocols serves as a key source of clear techniques as well as a collection of chapters that can inspire future techniques in this vital field of study.

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

New technologies allow us to handle increasingly large datasets, while monitoring devices are becoming ever more sophisticated. This high-tech progress produces statistical units sampled over finer and finer grids. As the measurement points become closer, the data can be considered as observations varying over a continuum. This intrinsic continuous data (called functional data) can be found in various fields of science, including biomechanics, chemometrics, econometrics, environmetrics, geophysics, medicine, etc. The failure of standard multivariate statistics to analyze such functional data has led the statistical community to develop appropriate statistical methodologies, called Functional Data Analysis (FDA). Today, FDA is certainly one of the most motivating and popular statistical topics due to its impact on crucial societal issues (health, environment, etc). This is why the FDA statistical community is rapidly growing, as are the statistical developments . Therefore, it is necessary to organize regular meetings in order to provide a state-of-art review of the recent advances in this fascinating area. This book collects selected and extended papers presented at the second International Workshop of Functional and Operatorial Statistics (Santander, Spain, 16-18 June, 2011), in which many outstanding experts on FDA will present the most relevant advances in this pioneering statistical area. Undoubtedly, these proceedings will be an essential resource for academic researchers, master students, engineers, and practitioners not only in statistics but also in numerous related fields of application. "

Given this pervasiveness and importance of miRNA-mediated gene regulation, it should come as little surprise that miRNAs themselves are also highly regulated. However, the recent explosion of knowledge on this topic has been remarkable, providing a primary motivation for publication of this book. As miRNAs are transcribed by RNA polymerase II, the enzyme that also generates mRNAs, it was perhaps not unexpected that miRNA transcription would be subject to regulation, and we have willfully mitted this aspect from this monograph. However, what has been unexpected is the extent of post-transcriptional regulation of miRNAs that is illustrated in this book.

This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

This volume provides a collection of protocols for the most common experimental methods used for engineering Yarrowia lipolytica. Chapters detail the basic theories underlying the methods described in each chapter. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Yarrowia lipolytica: Methods and Protocols aims to provide experimentalists with a full account of the practical steps necessary for carrying out each protocol successfully.

This edited book focuses on the recent advances in our understanding of age-related macular degeneration (AMD), combining epidemiology and clinical diagnosis, with genetics and immunological aspects as well as the role of proteostasis and mitochondria before diving into new therapies including stem cell based approaches. AMD is a leading cause of largely incurable blindness worldwide and projected to double from 2.07 million to 5.44 million individuals by 2050 in the United States. Globally, 288 million individuals are projected to have AMD by 2040. The disease has enormous socioeconomic impact on the affected individuals, their families and the society. This book will bring together the state of the art basic science knowledge with clinically relevant findings and address the challenges for future research in AMD. The intersection of different disciplines will provide potential areas for further investigations to reduce the burden of blindness from AMD. This book offers an appealing and insightful resource for clinicians, scientists, students and fellows.

Very Short Introductions: Brilliant, Sharp, Inspiring In this exploration of the concept of the gene, Jonathan Slack looks at the discovery, nature, and role of genes in both evolution and development. By explaining the nature of genetic variation in the human population, how hereditary factors were identified as molecules of DNA, and how certain specific mutations can lead to disease, Slack highlights how DNA variants are used to trace human ancestry and migration, and can also be used by forensic scientists to identify individuals in crime. He also explores issues such as the role of genetic heritability and IQ as well as the changes that occur in the genes of populations during evolution. An ideal guide for anyone curious about what genes are and how genetics can be put to use, this Very Short Introduction demonstrates the ways in which the gene concept has been understood and used by molecular biologists, population biologists, and social scientists around the world. This second edition has been fully updated and contains new sections on the CRISPR method for targeted genetic modification, on DNA profiling, and developments in our understanding of human ancestry using ancient DNA. ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.

To what extent should parents be able to choose the kind of child they have? The unfortunate phrase 'designer baby' has become familiar in debates surrounding reproduction. As a reference to current possibilities the term is misleading, but the phrase may indicate a societal concern of some kind about control and choice in the course of reproduction. Typically, people can choose whether to have a child. They may also have an interest in choosing, to some extent, the conditions under which they do so, such as whether they have a child with a serious disability or disease. The purpose of this book is to explore the difficult and controversial question of the appropriate ethical and legal extent of reproductive autonomy in this context. The book examines ethical, legal and public policy issues in prenatal screening, prenatal diagnosis (PND), selective abortion and preimplantation genetic diagnosis (PGD). It explores the ethics of these selection practices and the ability of current ethical guidelines and legal mechanisms, including the law on selective abortion and wrongful birth, to deal with advances in genetic and other knowledge in these areas. Unlike in the United States, in England the relevant law is not inherently rights-based, but the impact of the Human Rights Act 1998 inevitably raises questions about the proper scope of reproductive autonomy in this context. The implications of the analysis are considered for the development of relevant law, public policy and ethical guidelines and will be of interest to academics in medical law and ethics, health professionals, lawyers, those working on public policy and students with an interest in these issues.

This book gives insight into the functional role of non-coding RNAs in central pathways contributing to the development of obesity, type 2 diabetes, non-alcoholic fatty liver disease, atherosclerosis, myocardial infarction, cardiomyopathy, and heart failure. It also sheds light on the relationship of this cluster with cancer. Tumor cells, in contrast to cells in cardiometabolic tissues, can regulate this cluster of non-coding RNAs to escape from oxidative stress and anti-tumor immunity and maintain insulin sensitivity, facilitating cancer progression. The book presents a cluster of non-coding RNAs that may be prospectively analyzed in extensive cohort studies to determine their value in risk-predicting machine learning algorithms. In addition, it emphasizes the role of microvesicles in communication between tumor-adjacent tissue, inflammatory cells, and tumor cells, with a special focus on the role of miR-155. The book intends to promote interdisciplinary research. Due to the comprehensive background information provided in each chapter, it is suitable for researchers in academia and industry and for graduate students in biology, bioengineering, and medicine.

This volume explores methods and protocols for detecting epistasis from genetic data. Chapters provide methods and protocols demonstrating approaches to identify epistasis, genetic epistasis testing, genome-wide epistatic SNP networks, epistasis detection through machine learning, and complex interaction analysis using trigenic synthetic genetic array ( -SGA). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, application details for both the expert and non-expert reader, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Epistasis: Methods and Protocols aims to ensure successful results in the further study of this vital field. "Simulating Evolution in Asexual Populations with Epistasis" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Today, progress in rAAV-mediated gene transfer is so robust that long-term, efficient, and regulatable transgene expression is reproducibly achieved in large animal models. The complexity of gene transfer agents in the context of their clinical use requires investigators from a wide variety of backgrounds to have an understanding - or at least an appreciation of - the regulatory environment and constraints that affect vector design, manufacturing, pre-clinical testing, and clinical use, with an emphasis on patient protection. In Adeno-Associated Virus: Methods and Protocols, experts from the United States and Europe have contributed current knowledge of this multi-dimensional field relating to the biology of AAV, rAAV vector design, vector manufacturing and product testing, performance of rAAV vectors in major organs, rAAV-related immunological issues, design of animal and clinical studies, and clinical experience. Written in the successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and accessible, Adeno-Associated Virus: Methods and Protocols provides a complete and comprehensive understanding of this multi-disciplinary and rapidly progressing field.

Standing at the forefront of neurogenetic medicine, Neurogenetics: Scientific and Clinical Advances supplies the tools and information clinicians need to become familiar with modern neurogenetic approaches and apply the data gleaned from these technologies to the diagnosis and treatment of neurogenetic disorders, as well as traditionally non-genetic conditions such as Parkinson's and Alzheimer's disease.