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This handy volume, that can also serve as an integration to the preceding work Cellular Primary Immunodeficiencies by the same editor, presents detailed state of the art knowledge on Severe Combined Immunodeficiency (SCID) with extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured according to the most recent classifications including update on the immunological synapse, as well as on bioinformatics in primary immunodeficiencies leading the reader towards the computational immunology era. Readers will also find in-depth descriptions of SCID genes and related clinical application, and aspects such as differential diagnosis, clinical management, and the role of vaccines are also addressed. The authors are recognized experts world-wide and have crafted their chapters to turn Severe Combined Immunodeficiency in a valued, compact update for immunologists, paediatricians, internists, rheumatologists, and infectious diseases specialists, that MDs and PhD students will find informative as well.

This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.

This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic.Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reportedin the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs.Furthermore, supernumerary small ring chromosomes and the patient's perspective are addressed—the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing.This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.

The 5th World Congress on Genetics, Geriatrics, and Neurodegenerative Diseases Research (GeNeDis 2022) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging. This volume focuses on the sessions from the conference on Neuroscientific Advances.

The second volume of the Biomedical translational research discusses advancements in biomedical research for understanding the pathophysiology of various diseases towards improving diagnosis and treatment. It presents the integration of molecular-based technologies, clinical genomics, and medical informatics to improve diagnostic and treatment strategies. Further, the book reviews molecular genomics approaches for diagnosis and managing tuberculosis. It also covers the innovative strategies for cancer treatment through targeting metabolic pathways, tumor microenvironment, cancer stem cells, and immune cells. It also illuminates novel strategies for heart failure diagnosis and therapeutic approaches for the treatment of heart failure. It discusses improvements in translational research for discovery of new diagnostic tests, identifying novel biomarkers and drugable targets, and predicting optimal treatments based on understanding the underlying molecular basis of the disease. Lastly, it reviews the preclinical models of restenosis and their application and limitation in the evaluation of device-based interventional technologies for the treatment of coronary artery diseases.

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

This book is the output of Anthropological Survey of India's National Project'DNA Polymorphism of Contemporary Indian Population'conducted during 2000 to 2018. The book compiles the independent and collaborative work of 49 scientific personnel. Genomics facilitate the study of genetic constitution and diversity at individual and population levels. Genomic diversity explains susceptibility, predisposition and prolongation of diseases; personalized medicine and longevity; prehistoric demographic events, such as population bottleneck, expansion, admixture and natural selection. This book highlights the heterogeneous, genetically diverse population of India. It shows how the central geographic location of India, played a crucial role in historic and pre-historic human migrations, and in peopling different continents of the world. The book describes the massive task undertaken by AnSI to unearth genomic diversity of India populations, with the use of Uni-parental DNA markers mtDNA(mitochondrial DNA) and Y –chromosome in 75 communities. The book talks about the 61 maternal and 35 paternal lineages identified through these studies. It brings forth interesting, hitherto unknown findings such as shared mutations between certain communities. This volume is a milestone in scientific research to understand biological diversity of Indian people at genomic level. It addresses the basic priority to identify different genes underlying various inborn genetic defects and diseases specific to Indian populations. This would be highly interesting to population geneticists, historians, as well as anthropologists.

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 two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowledge on the genome evolution of modern humans. It comprises twelve chapters divided into two parts discussing “Non-neutral Evolution on Human Genes” (Part I) and “Evolution of Modern Human Populations” (Part II.) The most significant feature of this book is the continent-wise discussion of modern human dispersal using human genomic data in Part II. Recent results such as introgression of paleogenomes to modern humans, new methods such as computer simulation of global human dispersals, and new information on genes for humanness will be of particular interest to the readers. Since the euchromatin regions of the human genome was sequenced in 2003, a huge number of research papers were published on modern human evolution for a variety ofpopulations. It is now time to summarize these achievements. This book stands out as the most comprehensive book on the modern human evolution, focusing on genomic points of view with a broad scope. Primary target audiences are researchers and graduate students in evolutionary biology.

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.

This unique, case-based guide provides a thoughtful and comprehensive overview of the genetic basis of male infertility for the practicing clinician. In addition to discussing the molecular foundations of sperm production and the consequences of genetic abnormalities on various stages of sperm development, it examines the clinical aspects of acknowledged genetic disorders and their implications on male fertility. In so doing, it offers the necessary tools required by the clinician for the diagnosis and treatment of infertile men with genetic abnormalities. Moreover, it provides essential algorithms that may aid in counseling patients in the clinic.The text is arranged in four thematic sections for easy reference. The genetic foundation of male reproduction is presented in part 1, including regulation of sperm production, the structure of sperm chromatin, and spermatogenesis. The impact of genetic abnormalities on male infertility is the subject of part 2,covering sperm defects, mitochondrial function and DNA fragmentation. The clinical case material in part 3 illustrates real-world examples of genetic etiologies and the current diagnostic and therapeutic strategies for conditions such as vas asplasia, cryptorchidism, immotile cilia syndrome, sperm aneuploidy and other challenging scenarios. Casting forward, the fourth and final section presents an overview of future possibilities for management of genetic causes of male infertility, including gene editing.Fully exploring the clinical context of these genetic conditions in a practical manner that appeals to the practicing clinician, Genetics of Male Infertility is an exciting and essential text for reproductive medicine specialists, andrologists, urologists, researchers and all other clinicians treating infertile patients.

The book deals with basic cellular and molecular mechanisms associated with aging. It comprehensively describes the important genetic, epigenetic, biochemical and metabolic regulations during aging, as well as some important age-related diseases.The book is divided into four major sections for easy understanding. It takes the readers through the various aspects of aging in a story-like manner. Certain interventions for healthy aging such as dietary restriction, regular exercise and maintaining a balanced and peaceful life-style are also suggested by the experts. The book would be a companion for both beginners, as well as established researchers in the field. It would be useful for science education, research, clinical approach and policy making.

There are several types of damage that can be found in the male gamete. This book covers the genetic damage in spermatozoa that can originate during spermatogenesis, or during transit in both male and female genital tracts. Damage can also be due to ageing, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. The purpose of this book is to provide a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.

Bioinformatics is an integrative field of computer science, genetics, genomics, proteomics, and statistics, which has undoubtedly revolutionized the study of biology and medicine in past decades. It mainly assists in modeling, predicting and interpreting large multidimensional biological data by utilizing advanced computational methods. Despite its enormous potential, bioinformatics is not widely integrated into the academic curriculum as most life science students and researchers are still not equipped with the necessary knowledge to take advantage of this powerful tool. Hence, the primary purpose of our book is to supplement this unmet need by providing an easily accessible platform for students and researchers starting their career in life sciences. This book aims to avoid sophisticated computational algorithms and programming. Instead, it focuses on simple DIY analysis and interpretation of biological data with personal computers. Our belief is that once the beginners acquirethese basic skillsets, they will be able to handle most of the bioinformatics tools for their research work and to better understand their experimental outcomes.Our second title of this volume set In Silico Life Sciences: Medicine provides hands-on experience in analyzing high throughput molecular data for the diagnosis, prognosis, and treatment of monogenic or polygenic human diseases. The key concepts in this volume include risk factor assessment, genetic tests and result interpretation, personalized medicine, and drug discovery. This volume is expected to train readers in both single and multi-dimensional biological analysis using open data sets, and provides a unique learning experience through clinical scenarios and case studies.

This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases.The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation.It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.

This book gives an overview of the current knowledge on the most common neurodegenerative diseases, including Alzheimer's disease, frontotemporal lobar degeneration, Lewy body dementia,Parkinson's disease, amyotrophic lateral sclerosis, and additional less common neurodegenerative diseases. Both clinical and basic aspects of each disease are treated, including novel diagnostic criteria, old and new treatments, basic discoveries (genetics, epigenetics and molecular biology), and translation of basic research into biomarkers for early diagnosis, particularly to identify peripheral biomarkers. In addition, emerging data indicate that neurodegeneration seems to also be present in classically non-degenerative disorders. Therefore, a chapter about overlapping mechanisms between dementias and psychiatric disorders is included, as well as a description of the role of neurodegeneration in multiple sclerosis.Neurodegenerative Diseases is aimed at clinicians, particularly those workingin academic hospitals. This multidisciplinary book will also be of interest to basic researchers in medical fields.

Molekulare Sport- und Leistungsphysiologie ist die Lehre der Genetik und Signaltransduktion im Kontext körperlicher Aktivität. Ihre grundlegenden Ansprüche liegen in der Erforschung des Einfluss der Genetik auf die sportliche Leistungsfähigkeit und der Anpassungsprozesse durch Bewegungs- oder Trainingsreize auf molekularer und zellulärer Ebene.Dieses Werk vermittelt Grundlagenwissen in Genetik, Molekular- und Zellbiologie, stellt molekulare Mechanismen in leistungsphysiologischen Systemen dar und verbindet sportmedizinische mit -wissenschaftlichen Aspekten der körperlichen Leistungsfähigkeit. Der Brückenschlag zwischen theoretischem Wissen und praktischer Umsetzung gelingt durch Einbindung methodischer Aspekte in die sog. „Tooltipps“.Das Buch richtet sich an Sportmediziner, Sportwissenschaftler und sonstige im sportmedizinischen oder -wissenschaftlichen Bereich tätigen Berufsgruppen und Studenten, die sich fundiertes Wissen über moderne Erkenntnisse der körperlichen Leistungsfähigkeit aneignen möchten.

Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. This volume provides recent advances in Drosophila models for various human diseases, with each chapter providing a review of studies involving Drosophila models, as well as detailed protocols commonly used in laboratories. Starting with a review of Drosophila's value as a highly tractable model organism for studying human diseases, subsequent chapters present Drosophila models for specific human diseases. The book provides a useful resource for all scientists who are starting to use the Drosophila model in their studies, and for researchers working in the pharmaceutical industry and using new screening models to develop new medicines for various diseases.

This book reviews the human genome from an evolutionary perspective. No such book has ever been published before, although there are many books on human genomes. There are two parts in this book: Overview of the Human Genome (Part I) and The Human Genome Viewed through Genes (Part II). In Part I, after a brief review of human evolution and the human genome (by Naruya Saitou), chapters on rubbish or junk DNA (by Dan Graur), GC content heterogeneity (by Satoshi Oota), protein coding and RNA coding genes (by Tadashi Imanishi), duplicated genes (by Takashi Kitano), recombinations (by Montanucci and Bertranpetit), and copy number variations including microsatellites (by Naoko Takezaki) are discussed. Readers can obtain various new insights on the human genome from this part. In Part II, genes in X and Y chromosomes (by Yoko Satta and others), HLA genes (by Timothy A. Jinam), opsin genes (by Shoji Kawamura and Amanda D. Melin), genes related to phenotypic variations (by RyosukeKimura), transcription factors (by Mahoko Takahashi and So Nakagawa), diabetes-related genes (by Ituro Inoue), disease genes in general (by Ituro Inoue and Hirofumi Nakaoka), and microbial genomes (by Chaochun Wei) are discussed. The human genome sequences were determined in 2004, and after more than 10 years we are now beginning to understand the human genome from an evolutionary point of view. This book furnishes readers with a good summary of current research in the field.

This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health.With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.

This book presents the latest advances concerning the regulation of chromosome segregation during cell division by means of centromeres and kinetochores. The authors cover both state-of-the-art techniques and a range of species and model systems, shedding new light on the molecular mechanisms controlling the transmission of genetic material between cell divisions and from parent to offspring. The chapters cover five major areas related to the current study of centromeres and kinetochores: 1) their genetic and epigenetic features, 2) key breakthroughs at the molecular, proteomic, imaging and biochemical level, 3) the constitutive centromere proteins, 4) the role of centromere proteins in the physical process of chromosome segregation and its careful orchestration through elaborate regulation, and 5) intersections with reproductive biology, human health and disease, as well as chromosome evolution. The book offers an informative and provocative guide for newcomers as wellas those already acquainted with the field.

This book presents an investigation of language contact, focusing on Northwestern China. It breaks down the barrier between human sciences and natural sciences in order to reconsider the diversity of languages on the basis of the latest research findings from genetics, linguistics, and other domains, offering valuable insights into when and how the divergence of languages and genes began and language and gene admixture and replacement occurred. The book focuses on language evolution between the border of Gansu and Qinghai Province in China, but the research doesn't neglect the area beyond China's northern borders. Manchu, a dying language belonging to the Tungusic group, is also studied to enhance our understanding of language replacement. This work is the result of a four-year collaboration between teams of geneticists and linguists in France and China.

This book offers a detailed overview of translational bioinformatics together with real-case applications. Translational bioinformatics integrates the areas of basic bioinformatics, clinical informatics, statistical genetics and informatics in order to further our understanding of the molecular basis of diseases. By analyzing voluminous amounts of molecular and clinical data, it also provides clinical information, which can then be applied. Filling the gap between clinic research and informatics, the book is a valuable resource for human geneticists, clinicians, health educators and policy makers, as well as graduate students majoring in biology, biostatistics, and bioinformatics.

This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics.J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes.There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.

This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia. Dagestan is characterized by extreme cultural and linguistic differences in a small geographic area and contains 26 indigenous ethnic groups. According to archeological data these indigenous highland ethnics have been living in the same area for more than ten thousand years. Our long-term population-genetic study of Dagestan indigenous ethnic groups indicates their close relation to each other and suggests that they evolved from one common ancestral meta-population. Dagestan has an extremely high genetic diversity between ethnic populations and a low genetic diversity within them. Such genetic isolates are exceptional resources for the detection of susceptibility genes for complex diseases because of the reduction in genetic and clinical heterogeneity. The founder effect and gene drift in these primary isolates may have caused aggregation of specific haplotypes with limited numbers of pathogenic alleles and loci in some isolates relative to others. The book presents a study in four ethnically and demographically diverse genetic isolates with aggregation of schizophrenia that we ascertained within our Dagestan Genetic Heritage Research Project. The results obtained support the notion that mapping genes of any complex disease (e.g., schizophrenia) in demographically older genetic isolates may be more time and cost effective due to their high clinical and genetic homogeneity, in comparison with demographically younger isolates, especially with genetically heterogeneous outbred populations.

Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinicallyrelevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future. ​

Intended for readers with a background in fertility medicine as well as those less familiar with IVF, this comprehensive work presents an update on preimplantation genetic testing to enable single embryo transfer (SET). An international cast of contributors explains the treatment sequence—from ovulation induction to luteal support—aiming to transfer only one euploid embryo. Applications of molecular techniques for gamete and embryo assessment are fully detailed, with a focus on the strengths and limitations of each. In addition, expert commentary is shared across a range of regulatory challenges associated with embryo screening and cryopreservation. As access to advanced reproductive technology increases against a sharper background of healthcare reform, clinicians, economists, bioethicists and legislators alike will find this new volume relevant and highly accessible.

In this thesis, Dr. Jin presents the distribution of ancestral chromosomal segments in the admixed genome, which could provide the information needed to explore population admixture dynamics. The author derives accurate population histories of African Americans and Mexicans using genome-wide single nucleotide polymorphisms (SNPs) data. Mapping the genetic background facilitates the study of natural selection in the admixed population, and the author identifies the signals of selection in African Americans since their African ancestors left for America. He further demonstrates that many of the selection signals were associated with African American-specific high-risk diseases such as prostate cancer and hypertension, suggesting an important role these disease-related genes might have played in adapting to their new environment. Lastly, the author reveals the complexity of natural selection in shaping human susceptibility to disease. The thesis significantly advances our understanding of the recent population admixture, adaptation to local environment and its health implications.

Over 98% of the human genome contains non-coding DNA sequences. For many years molecular biologists referred to this component of the genome as the “junk” DNA since it does not code for any “useful” protein product. Over the last years this notion changed significantly as scientists discovered that a large part of this DNA contains various genomic elements that have important roles in cell physiology. Genomic elements such as non-coding RNAs, transposons, splicing RNAs, DNA repeats and others were shown to play a significant role in regulating gene expression. In addition, all these elements were implicated to contribute in the pathogenesis or progression of various human diseases. In this book, the editor will attempt to describe all these genomic elements that constitute the junk DNA of the genome. For every genomic element, the physiologic role in the organism, its role in evolution and any possible involvement in human diseases will be discussed. Additionally, interaction between these elements in normal or pathologic condition will be discussed. Since a large amount of new knowledge is generated daily in regards to these genomic elements, this book will attempt to combine all the information in a single publication that can serve as a reference for future studies. The first part will discuss RNA elements such as microRNAs, long non-coding RNAs, piRNAs and splicing RNAs. The second part of the book will deal with transposons, retrotransposons and DNA transposons. Finally the third part of the book will discuss DNA elements that include DNA repeats, conserved non-coding sequences, distal genomic elements, introns, pseudogenes, CpG islands and telomeres. For miRNAs and CNVs a separate chapter will be dedicated to their role in human diseases since an extensive amount of information exists about these two elements.

Latest generation sequencing revolutionizes the fields of cancer research and oncology. This follow-up volume focuses more extensively on single cell sequencing of cancer and trials in drug resistance. Another exciting feature is the bioinformatics tools given, that can be used on cancer genome studies. Scientists around the world are attempting to find the root cause of cancer. A reasonable cancer treatment plan and potential cure is more optimistic now with the unfolding of the cancer genome. The collective knowledge of how to leverage next generation sequencing in cancer research is paving the way. The important information provided in this volume will move the field forward in developing novel targeted cancer therapies.

The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.

This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework.Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play animportant role in complex human phenotypes. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyse and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but powerful methods to analyse the aggregation of low-frequency and rare variants are now starting to emerge.The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Written for non-experts, this volume introduces the mechanisms that underlie reticulate evolution. Chapters are either accompanied with glossaries that explain new terminology or timelines that position pioneering scholars and their major discoveries in their historical contexts. The contributing authors outline the history and original context of discovery of symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infectious heredity. By applying key insights from the areas of molecular (phylo)genetics, microbiology, virology, ecology, systematics, immunology, epidemiology and computational science, they demonstrate how reticulate evolution impacts successful survival, fitness and speciation.Reticulate evolution brings forth a challenge to the standard Neo-Darwinian framework, which defines life as the outcome of bifurcation and ramification patterns brought forth by the vertical mechanism of natural selection. Reticulate evolution puts forward a pattern in the tree of life that is characterized by horizontal mergings and lineage crossings induced by symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infective heredity, making the “tree of life” look more like a “web of life.” On an epistemological level, the various means by which hereditary material can be transferred horizontally challenges our classic notions of units and levels of evolution, fitness, modes of transmission, linearity, communities and biological individuality.The case studies presented examine topics including the origin of the eukaryotic cell and its organelles through symbiogenesis; the origin of algae through primary and secondary symbiosis and dinoflagellates through tertiary symbiosis; the superorganism and holobiont as units of evolution; how endosymbiosis induces speciation in multicellular life forms; transferrable and non-transferrable plasmids and how they symbiotically interact with their host; the means by which pro- and eukaryotic organisms transfer genes laterally (bacterial transformation, transduction and conjugation as well as transposons and other mobile genetic elements); hybridization and divergence with gene flow in sexually-reproducing individuals; current (human) microbiome and viriome studies that impact our knowledge concerning the evolution of organismal health and acquired immunity; and how symbiosis and symbiogenesis can be modelled in computational evolution.

This book gives an overview of the current knowledge on the most common neurodegenerative diseases, including Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and additional neurodegenerative diseases. Different aspects of each disease are reviewed, including clinical issues, treatments, basic discoveries (genetics and molecular biology), and translation of basic research into biomarkers for early diagnosis. In addition, emerging data indicate that neurodegeneration seems to also be present in classically non-degenerative disorders. Therefore, a chapter about overlapping mechanisms between dementias and psychiatric disorders is included, as well as a description of the role of neurodegeneration in multiple sclerosis.Neurodegenerative Diseases is aimed at clinicians, particularly those working in academic hospitals. This multidisciplinary book will also be of interest to basic researchers in medical fields.

Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist's role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing.Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​

Proceedings of the NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy, held at Aghia Pelagia, Greece, October 10-15, 1992

This book will provide an overview of basic epigenetic phenomena; interaction between epigenetic and genetic factors; and the influence of epigenetic factors on inheritance. Epigenetic states may contribute to the penetrance of genetic polymorphisms or mutations and thereby modify inheritance patterns. This may result in non‐Mendelian inheritance of genetic traits such as observed in common human disease. The relationship between epigenetics and genetics, however, has not been comprehensively summarized yet. The topic is being more and more appreciated lately due to considerable advances in genomic and epigenomic approaches to study the origins of human disease. The editors will focus not only on describing epigenetic characteristics, mechanisms and results, but also on how considerations of epigenetics can alter interpretation and analysis of risks for complex traits. This book will be a resource for those who have been working in human genetics or analysis of human genetic data and are studying the impact of epigenetics on inheritance. An overview will be given of the impacts of inter‐individual variation in epigenetic states from major changes (errors in genomic imprinting) that cause congenital developmental defects to subtle changes and their impact on complex traits. The editors will discuss the relationship between epigenetic changes and genetic changes in human disease. Several chapters will also focus on statistical analysis of epigenetics effects, either in human disease genetic studies, or in population genetics. ​

In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

Evolution is the most profound of human ideas integrating all natural phenomena: cosmic, biological, and cultural into a continuous universal change. This volume deals with evolutionary observations, experiments, and theories contributing to a deeper understanding of the evolutionary process, th honoring the 75 birthday of Eviatar (Eibi) Nevo. I first met Eibi in 1966 when he was a Fellow in the Museum of Comparative Zoology at Harvard University and working mostly on cricket frog vocalization and speciation in the United States. His unique discovery of pipid fossil frogs in the Israeli Early Cretaceous, central Negev, is possibly the largest world collection of ancient fossil frogs. Our acquaintance developed into mutual friendship and admiration. Since then our long-lasting friendship has included a visit to Israel, enabling me to follow Eibi's major scientific achievements, in particular, his founding of the Institute of Evolution in the University of Haifa and now the pending establishment of the International Graduate School of Evolution. The research program of Eibi Nevo, in collaboration with numerous colleagues and students in Israel and across the world, encompasses diverse perspectives of evolutionary biology and biodiversity of genes, populations, species, and ecosystems integrating modem and classical evolutionary approaches, molecular and organismal. They deal with model organisms in all forms from bacteria through plants, fungi, animals, and humans conducted over local, regional, and global scales.

Die Auswirkungen der Gen- und Biotechnologie auf die menschliche Gesellschaft und Umwelt ist eines der aktuellen Themen unserer Zeit. Über die Zukunft der Genmedizin wird meist heftig, oft aber nur vordergründig diskutiert. Das vorliegende Werk bietet eine umfangreiche sowie kontroverse Betrachtungsmöglichkeit, die Visionen oder Befürchtungen kompetenter Autoren zur Genmedizin kennenzulernen. Die Beiträge zu den verschiedenen Teilbereichen der Genmedizin sind fachlich fundiert, aber dennoch allgemeinverständlich geschrieben, so dass weder der interessierte Laie noch der Wissenschaftler enttäuscht wird. Aufbauend auf einem einführenden Kapitel zum derzeitigen Entwicklungsstand der Genmedizin werden in den Beiträgen unter anderem die Möglichkeiten bzw. Chancen aufgezeigt, welche Auswirkungen ein Einsatz der Genmedizin oder die Molekularbiologie in der Zukunft auf die menschliche Ernährung, die medizinische Versorgung sowie weltanschauliche oder soziologische Belange haben könnte und bereits hat.

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Eminent researchers provide broad coverage of plant molecular biology and genetic engineering, detailing technological advances in plant cell transformation and responses. This state-of-the-art text includes coverage of molecular action of plant growth hormone, signal transduction, light mediated expression of genes, and genetic engineering of crop plants and trees.

Chromosomes Today volume 14 records the plenary proceedings of the 14th International Chromosome Conference, presenting an overview of the current concerns in plant, animal and human cytogenetics. This volume provides up-to-date information regarding relevant aspects on structure, function and evolution of chromosomes, meiosis, sex chromosomes, and cancer cytogenetics. It contains invited contributions from some of the world's leading experts in the field.

Is Newton's brain different from Rembrandt's? Does a mother's diet during pregnancy impact brain growth? Do adolescent peers leave a signature in the social brain? Does the way we live in our middle years affect how our brains age? To answer these and many other questions, we can now turn to population neuroscience. Population neuroscience endeavors to identify environmental and genetic factors that shape the function and structure of the human brain; it uses the tools and knowledge of genetics (and the “omics” sciences), epidemiology and neuroscience. This text attempts to provide a bridge spanning these three disciplines so that their practitioners can communicate easily with each other when working together on large-scale imaging studies of the developing, mature and aging brain.By understanding the processes driving variations in brain function and structure across individuals, we will also be able to predict an individual's risk of (or resilience against) developing a brain disorder. In the long term, the hope is that population neuroscience will lay the foundation for personalized preventive medicine and, in turn, reduce the burden associated with complex, chronic disorders of brain and body.

Ancient DNA Typing is a comprehensive manual about the analysis of ancient and degraded DNA. It is an equally useful textbook and working tool for various disciplines such as: Anthropology, Archaeology, Forensic Medicine, Conservation Biology, Environmental Sciences and Food Engineering.The reader benefits from a clear division of strategies, methods and applications with many interesting examples of the analysis of historic skeletal and cultural remains. The book contains a detailed protocol chapter which serves as a lab manual with the most important methods for DNA extraction, PCR and electrophoretic analysis of degraded samples. The appendix helps to set up a PCR lab specializing in ancient DNA research and answers the most frequent questions concerning technical problems in investigations of degraded DNA.

The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

Chromosome biology has been brought to a golden age by phenomenal advanced in molecular genetics and techniques. This is true in the plant arena, and it is becoming increasingly true in animal studies, where chromosomes are more difficult to work with. With advanced knowledge of transformation, scientists can tell exactly where a new element enters a chromosome. Conversely, molecular biologists can make large mistakes if they do not understand the behavior of chromosomes. Written by internationally recognized experts in the field, this book is the most authoritative work on the subject to date. Students of genetics, crop science and plant breeding, entomology, animal science, and related fields will benefit from this comprehensive and practical textbook.

This year we remember the 39th anniversary of the atomic bomb explo­ sions in Hiroshima and Nagasaki, which led to the exposure of thou­ sands of people to high doses of ionizing radiations. Nearly 18 years earlier, on the 15th of September, 1927, H. J. Muller presented his paper The Problem of Genic Modification at the Fifth International Congress of Genetics in Berlin, in which he brilliantly demonstrated the muta­ genic activity of X-rays. In 1928, K. H. Bauer formulated his mutation theory of the origin of cancer, and already in 1914, Th. Boveri speculat­ ed that tumor cells originate from an abnormal chromosomal comple­ ment. In the meantime we have learned that also nonionizing radiation and an immense number of environmental chemicals, both, man-made and naturally occurring, are mutagenic in a variety of test systems, in­ cluding human cells. In no case has it been shown unequivocally that physical or chemical mutagens have led to an elevation of the mutation rate in the germ cells of man, but in view of the huge body of experi­ mental data this seems to be a problem of detection. It can be expect­ ed that germ cell mutations are induced as a consequence of exposure to mutagens in man, as yet undetectable with the methods at hand. An uncontrolled addition of mutations to the human gene pool may well have unforeseen and catastrophic consequences in future genera­ tions for whom we should feel responsible.