Medical genetics Books

Book SynopsisFragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviours and related developmental disabilities. Beside intellectual delays, behavioural problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviours are frequently observed. Although there is no specific cure, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioural and/or cognitive behavioural interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviours were included and the importance of the early combined intervention was critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argued for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behaviour (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task. Targeted readers (i.e., caregivers, clinicians, speech therapists, professionals, psychologists, neurologists, parents of children with Fragile X syndrome, teachers) may find interesting and stimulating tips and insights for daily use in clinical research and practice, with the dual objective of diagnosis and treatment.Table of ContentsPreface; Fragile X Syndrome: Pathological Mechanisms and Molecular Bases; Fragile X Syndrome: Common Neuropsychiatric Associations; Pharmacotherapy of Fragile X Syndrome; General Features and Conceptual Issues on Fragile X Syndrome; Microswitch-Cluster Technology to Promote Constructive Engagement and Reduce Mouthing in Two Children with Fragile X Syndrome and Developmental Disabilities; Microswitch and VOCA to Independently Access Positive Stimulation and Ask for Social Interaction in an Adolescent with Fragile X Syndrome and Developmental Disabilities; Promoting Functional Occupation in a Child with Fragile X Syndrome: Effects on Positive Mood; Index.

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Book SynopsisBillions of spots of tiny genetic code comprise the human genome. It was DNA sequencing technology that had revolutionized genomic research by decoding the valuable genetic information by giving the picture of an exact order of occurrence of nucleotides in a DNA. The inception of first-generation sequencing method, also called Sanger sequencing took place in 1975. The first major breakthrough of first-generation sequencing comes, when the 13 year log Human Genome Project (HGP) was completed in 2003 at a cost $3 million. With ever increasing demands of researchers and clinicians, complex genomic research require a depth of information which is however beyond the capacity of traditional DNA sequencing technologies. These research questions gaps are very well addressed by Next-generation sequencing (NGS) has filled that gap of cheaper as well as faster sequencing technology.It is just a decade old technology, but it has popularize the next-generation sequencing to high-throughput sequencing hat allow millions to trillions of observations to be made in parallel during a single instrument run. Since the introduction of these technologies, the number of applications and methods that influence the power of genome-scale sequencing has increased exponentially. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice.The following chapter will highlight the concepts, technologies, and methods of next-generation sequencing to illustrate the breadth and depth of the applications and research areas that are driving progress in genomics.

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Book SynopsisGenetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described. Concluding with a review of ethical issues and a framework for translating human genomics research to clinical practice and public health benefit, this textbook is an essential new resource for graduate students in epidemiology and public health genetics.Table of Contentsa: Foreword 1: The Evolving Field of Genetic Epidemiology 2: Assessing Genetic Influences on Diseases and Risk Factors 3: Genetic Concepts and Genomic Technology for Genetic Epidemiology 4: Family Studies in Genetic Epidemiology: From Linkage to Exome Sequencing 5: Genetic Association Studies 6: Population Stratification in Genetic Association Studies 7: Gene–Environment Interactions and Epistasis 8: Non-Mendelian Genetics 9: Software and Data Resources for Genetic Epidemiology Studies 10: Ethical Issues in Genetic Epidemiology 11: Public Health and Clinical Applications of Genetic Epidemiology

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Book SynopsisBacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.Table of ContentsA: Table of Contents B: Foreword Sixty Years of Pilus research 1: The Vibrio cholerae toxin coregulated pilus: structure, assembly and function with implications for vaccine design 2: Conjugative pili 3: Pilus biogenesis by the chaperone-usher pathway 4: Type 1 and P Pili of Uropathogenic Escherichia coli 5: Type IV pili: functions and biogenesis 6: The Pseudomonas aeruginosa type IV pilus assembly system in three dimensions 7: Corynebacterium diphtheriae pili: Assembly, Structure, and Function 8: Three-dimensional structures of pilin subunits and their role in Gram-positive pilus assembly and stability 9: Sortase structure and specificity in Streptococci 10: Pili of Streptococcus pyogenes 11: The role of pili in the formation of biofilm and bacterial communities 12: Fimbrae/Pili from oral bacteria 13: Pilus based vaccine development in Streptococci: Variability, Diversity & Immunological responses

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Book SynopsisBacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.Table of ContentsA: Table of Contents B: Foreword Sixty Years of Pilus research 1: The Vibrio cholerae toxin coregulated pilus: structure, assembly and function with implications for vaccine design 2: Conjugative pili 3: Pilus biogenesis by the chaperone-usher pathway 4: Type 1 and P Pili of Uropathogenic Escherichia coli 5: Type IV pili: functions and biogenesis 6: The Pseudomonas aeruginosa type IV pilus assembly system in three dimensions 7: Corynebacterium diphtheriae pili: Assembly, Structure, and Function 8: Three-dimensional structures of pilin subunits and their role in Gram-positive pilus assembly and stability 9: Sortase structure and specificity in Streptococci 10: Pili of Streptococcus pyogenes 11: The role of pili in the formation of biofilm and bacterial communities 12: Fimbrae/Pili from oral bacteria 13: Pilus based vaccine development in Streptococci: Variability, Diversity & Immunological responses

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Book SynopsisA TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield' Mail on Sunday A new gene editing technology, invented just seven years ago, has turned humanity into gods. Enabling us to manipulate the genes in virtually any organism with exquisite precision, CRISPR has given scientists a degree of control that was undreamt of even in science fiction. But CRISPR is just the latest, giant leap in a long journey to master genetics. The Genetic Age shows the astonishing, world-changing potential of the new genetics and the possible threats it poses, sifting between fantasy and the reality when it comes to both benefits and dangers. By placing each phase of discovery, anticipation and fear in the context of over fifty years of attempts to master the natural world, Matthew Cobb, the Baillie-Gifford-shortlisted author of The Idea of the Brain, weaves the stories of science, history and culture to shed new light on our future. With the powers now at our disposal, it is a future that is almost impossible to imagine - but it is one we will create ourselves.Trade ReviewFascinating, occasionally chilling and very readable -- Rhys Blakely * The Times *Detailed and deeply researched ... striking ... complex -- Henry Marsh * New Statesman *[A] deeply researched and often deeply troubling history of gene science ... [in search of] decency and honor in a morally complex field. -- Deborah Blum * New York Times *Disturbing and readable * New Scientist *Comprehensive ... you can sense Cobb's excitement and enthusiasm * TLS *The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield * Mail on Sunday *There are serious questions about the safety of genetic engineering, but also profound social and ethical questions about its use. Matthew Cobb, in his detailed and deeply researched book ... is concerned as much about these questions as he is about the technical details ... but the book is not a primer for understanding the field; it is much more than that. -- Henry Marsh * New Statesman *Wonderful ... a thoughtful, lively and evocative exposition of the history of genetic engineering. -- Adrian Woolfson * Wall Street Journal *Excellent and occasionally harrowing ... masterfully told history ... offers a clear-eyed, well-researched view of the promises and pitfalls of a necessary new technology * Forbes *[An] indefatigable exploration of the genesis of biology ... beautifully lays out the sheer improbability of our biosphere. * The Atlantic *A look at genetic engineering that provides valuable background for rethinking the appropriate uses for these technologies. * Kirkus *A truly valuable book ... most of us get very big picture ideas of what's going on with gene editing and other genetic modifications from the media. Now we've got the real story -- Brain Clegg * Popular Science *An engaging, intriguing book about the history of genetic engineering and where it might lead society ... Excellent. * Library Journal *[A] remarkable jaunt through the twists and turns of the genetic engineering revolution ... a valuable new go-to source. -- Luis A. Campos * Science *Cobb does an excellent job describing the history and the nuts and bolts of genetic engineering. But his real focus, as the title of his book implies, is on the sociological, psychological, and philosophical questions surrounding the genetic age. * GEN Biotechnology *His evenhanded critique balances caution about emergent technologies with tart scepticism of overreaching claims ... The result is an eye-opening - and occasionally hair-raising - indictment of scientific hubris and recklessness. * Publishers Weekly *The book provides such rich description that even the most knowledgeable readers ... will learn something new ... fascinating. * Journal of Medical Humanities *Powerful gene technologies, long foreseen, are finally with us. Taking the measure of this daunting prospect calls for historical acumen, technical appreciation, and a clear-eyed view of human foibles. As this book attests, Matthew Cobb has all three -- Jon TurneyA superb account of genetic engineering in life and culture, in all its myriad anxieties and exhilarations. Should we be scared? Read this book and you'll have a sense of the answer -- Adam Roberts, author * It's the End of the World *Matthew Cobb is a great storyteller of science, a tapestry of intriguing and enlightening ideas thoughtfully and entertainingly told -- Robin InceProfound and important ... Written with astute, calm and clear-sighted judgement, The Genetic Age is likely to be the definitive account of the rise of gene biotechnologies. Neither a credulous booster nor a doom-mongering catastrophist, Matthew Cobb steers a prudent path through the promise and perils of genetic engineering -- Philip Ball, author * Critical Mass *Faced with a new round of genetic dreams and nightmares, Matthew Cobb skilfully sifts the truth from the hype in this thrilling and alarming account of our most dangerous and exciting technology -- Paul Mason, author * How to Stop Fascism *The promise of genetic engineering is limitless, the stuff of dreams and nightmares, and that is also the problem, as Matthew Cobb shows us in this elegant and meticulously researched history. Packed with human stories and fascinating detail, this is the journey of discovery that changed how we view life itself. -- Gaia Vince, author * Transcendence, Adventures in the Anthropocene *A lucid and vigorously insightful account of the pitfalls and triumphs of the twenty-first century's most ethically challenging and potentially world-changing technology -- Paul McAuley, author * Fairyland *A superb guide to the global history of the dreams, fears and science of genetic engineering, and why it matters for tomorrow -- Jon Agar, author * Turing and the Universal Machine *A gripping, bawdy tale of science fiction morphing into business history ... Exhaustively researched and beautifully written ... the histories of recombinant DNA, biotech, GMOs, gene therapy, and cloning in a single lively, accessible account -- Nathaniel Comfort, Professor of the History of Medicine, John Hopkins University, and author * The Tangled Field: How Genetics Became the Heart of American Medicine *A riveting guide to the new age of genome engineering, revealing how ideas and technology that until recently existed only in science fiction are now a stunning clinical reality ... Required reading for anyone who cares about the future of humanity and our planet -- Kevin Davies, author * Editing Humanity *The genetic advances of the past half-century have raised the possibility that we can not only read the instructions that make living things, including ourselves, but also edit them at will. As a geneticist, Matthew Cobb celebrates the potential of these advances for medicine, agriculture and biodiversity. As a historian, however, he sets them against a complex social, political and cultural backdrop, arguing that everyone should have a voice in deciding what is necessary and right, not just what is possible. His riveting analysis warns that in a world beset by poverty, inequality and climate catastrophe, chasing apparently dazzling technofixes is rarely cost effective or morally justified. -- Georgina Ferry, scientist and broadcaster

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Book SynopsisEpigenetics, which deals with the study of heritable gene expression that takes place independent of changes in DNA sequence, and optogenetics, which deals with the study of genes expressed under the influence of light, are two emerging areas of study and research that have contributed immensely to our current knowledge of mechanisms and disease processes in humans. These disciplines are interrelated in the broader picture of biology and one can be used to change or modify the other. The complexity of the techniques involved in these disciplines often leads to a lack of proper understanding by researchers from other disciplines and the scientific community at large. As such, this book provides simple and easy-to-follow explanations of some of the most exciting areas of research in these disciplines.

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Book SynopsisThis is the first book in the field to address the underlying biological abnormalities of Dementia in Alzheimer’s Disease (DAD) in people with Down syndrome. It brings together research findings relating to the neuropathology, genetics, blood markers and neurophysiology of Alzheimer’s disease in older adults with Down syndrome. Down Syndrome and Alzheimer’s Disease presents vital information to medical professionals who provide clinical care to people with Alzheimer’s disease and Down syndrome. It will also be of great benefit to researchers with an interest in Alzheimer’s disease and Down syndrome and academics researching ageing issues in people with Down Syndrome. It complements Alzheimer's Disease and Dementia in Down Syndrome and Intellectual Disabilities by the same author.Trade Review"'Significant, important, excellent. It provides a comprehensive 'state of the art' analysis. Not only is dementia in Alzheimer's disease emerging as the greatest challenge for those charged with the health and community care of people who are ageing with an intellectual disability; it is a similar challenge for the dramatically increasing numbers of older people in the general population. The scientific community investigating one of the most serious health challenges facing adults with an intellectual disability is indebted to Dr Vee Prasher and colleagues for this scholarly contribution to the study of the biological correlates of dementia in Alzheimer's disease in adults with Down syndrome. This important collection of the most recent research findings in this field of enquiry will further stimulate efforts to develop treatments that may ameliorate the condition; delay its onset, and ultimately provide means for prevention.' Trevor R Parmenter, in the Foreword"Table of ContentsOverview of Alzheimer’s disease in Down syndrome. Neuropathology of Alzheimer’s disease in Down syndrome. Genetics, Alzheimer’s disease and Down syndrome. Amyloid beta and tau Proteins in Alzheimer’s disease and Down syndrome. Down syndrome, dementia, and superoxide dismutase. Macrocytosis: a peripheral marker for dementia in Alzheimer’s disease in adults with Down syndrome? Thyroid function, dementia and Down syndrome. Neurophysiological changes associated with dementia in Down syndrome. Neuroimaging studies of persons with Down syndrome. Concluding remarks

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Book SynopsisThis book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities. The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past. The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified. The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.Table of ContentsIntroduction - putting together the pieces of the auditory puzzle Section 1 - Terminology and Definitions. Audiological terms. Vestibular definitions. Epidemiological terms. Genetic terms. Section 2 - Protocols. Audiometric investigation of probands. Audiometric investigation of first degree relatives. Audiometric investigation of carriers. Vestibular protocol. Epidemiological criteria. The European congenital ear anomaly inventory. Protocol for syndromal disorders associated with hearing impairment. How to collaborate with a genetic lab. Section 3 - Phenotype/Genotype Correlation. Introduction - Genotypes and phenotypes of non-syndromal hearing impairments. Phenotype/Genotype correlation autosomal dominant and autosomal recessive non-syndromatic hearing impairment. X-genotypes and phenotypes of non-syndromal X-linked hearing impairment. Phenotype/genotype correlation hearing impairment with mitochondrial DNA mutations. Section 4 - Relevant web sites. The hereditary hearing loss homepage. Connexin 26 (GJB2) deafness homepage.

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Book SynopsisThe aim of this book is to provide a description of what is currently known about the genetics of deafness for audiologists, otologists and general genetics. It includes a number of background chapters introducing relevant genetics for audiologists and otologists and relevant aspects of auditory intervention for geneticists. These cover the epidemiology of hearing loss and the current situation with regard to gene identification within the field. Chapters on the common syndromes, eg Ushers, Waardenburg, Pendred, Branchio-otorenal and Treacher Collins are followed by coverage of Dominant, Recessive and x-linked non-syndromal deafness, together with mitrochondial deafness. The final section includes chapters on the genetic, rehabilitative and surgical management of genetic disorders.Table of ContentsForeword. Preface. Contributors. Acknowledgements. Part I Background. Chapter 1 Basic mechanisms of hearing and hearing impairment, Karen P Steel and Alan Plamer. Chapter 2 Basic genetic mechanisms, Andrew P Read. Chapter 3 Methods of identifying hearing loss genes, Bruno Dallapiccola, Rita Mingarelli and Andrew P Read. Chapter 4 The use of gene libraries in the study of the molecular genetics of the auditory system, William J Kimberling and Kirk Beisel. Chapter 5 Mouse models for human hearing impairment, Steven DM Brown and Karen P Steel. Chapter 6 Gene linkage in genetic hearing loss: Where are we now? Cor WRJ Cremers. Chapter Par II Audiology Chapter 7 Epidemiology of genetic hearing impairment, Agnete Parving. Chapter 8 The audiological approach to genetic hearing impairment in children, Edoardo Arslan and Eva Orzan. Chapter 9 Audiometric patterns of genetic hearing loss, Alessandro Martini and Silvano Prosser. Chapter 10 The detection of carriers of genetic hearing loss, Dayfydd Stephens and Eva Orzan. Chapter 11 Blance function and hearing loss, Claes Moller. Chapter 12 The diagnostic approach to syndromal hearing loss, Elisa Calzolari and Alberto Sensi. Chapter 13 Auditory dysfunction in genetic disordersd of the skelton, Peter Beighton. Chapter 14 Usher syndrome, William J Kimberling and Richard JH Smith. Chapter 15 Pendred syndrome, William REardon and Richard C Trembath. Chapter 16 Waardenburg syndrome, Andrew P Read and Valerie E Newton. Chapter 17 Alport syndrome, Han G Brunner. Chapter 18 Neurofibromatosis type II, D Gareth R Evans. Chapter 19 Branchio-oto-renal syndrome, Richard JH Smith and William J Kimberling. Chapter 20 Treacher Collins syndrome, Michael J Dixon. Part IV Non-Syndromal Hearing Loss. Chapter 21 Automsomal recessive non-syndromal hearing loss, Chrinstine Petit. Chapter 22 Autosomal dominant non-syndromal hearing loss, Christine Petit. Chapter 23 Otosclerois, Frank Declau and Paul van de Hyning. Chapter 24 X-linked hearing loss, Han G Brunner. Chapter 25 The X-linked recessive progressive mixed hearing loss syndrom with perilymphatic gusher during stapes surgery (DFN3), Cpr WRJ Cremers. Chapter 26 Mitochondrially determined hearing impairment, Nathan Fischel-Ghodsian. Part V Management. Chapter 27 Genetic counselling for hearing impairment, Robert F Mueller. Chapter 28 Surgical counselling for hearing impairment, Robert F Mueller. Chapter 29 Surgery for congenital conductive and mixed hearing loss without atresia of the ear canal, Cor WRJ Cremers. Chapter 30 Rehabilitation of genetic hearing loss, Susan Bellman. Glossary. Reference. Index.

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Book SynopsisA geneticist tells the stories of men, women, and children whose genes have shaped their lives in unexpected ways. It was while listening to a colleague tell the parents of a newborn girl that their daughter was going to die that a lifelong interest in genetic medicine was sparked in Dr Edwin Kirk. Warmth and gentleness tempered a direct, sure manner — this was the medicine he wanted to practise, where the most advanced science and the most deeply human meet. Twenty-five years later, Dr Kirk works both with patients and in the lab, and he spearheads a campaign that will change the way we think about having babies. His experience is without parallel, but it is his humour and insight that make all the difference. Find out why Dr Kirk found himself among hundreds of people, each with a glass of poison in front of them — and how you might perform the same experiment yourself (without the poison). Learn how the realisation that a young boy wasn’t short ended up saving the life of his mother — and how Angelina Jolie has saved the lives of many more. Sit in the room with Dr Kirk and his patients as they navigate the world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality. In genetics, it is the particularities of an individual’s history that matter, and here, in clear and considerate writing, those individual stories are given voice.Trade Review‘This is an excellent book that explores the history, ethics, patient stories, and explanations of science in a sensitive and relatable way. It is a very readable book that does not overwhelm the reader with scientific facts. It takes a complicated topic in medicine and makes genetics accessible to a wider audience.’ -- Judges’ citation from the 2022 BMA medical book awards‘Admirable … With great precision and detail, Dr Kirk explores the unexpected ways in which our genes shape our lives … A renowned geneticist, Kirk is also a capable writer. He is humorous, modest, insightful, and humane.’ -- Kevin O’Sullivan * Irish Examiner *‘This new book sets out to share the experiences and anecdotes of a career in genetic medicine more than two-decades long, while narrating segments of the history of genetic pathology and exploring the world of genes today and to come … Kirk makes effective use of footnotes to deflate the academic style and maintain a sense of personality and fun.’ -- David Ferrell * Canberra Times *‘Both an account of the human stories at the heart of Kirk’s practice and a beginner’s guide to genetic medicine, The Genes That Make Us tells of the significant progress that has been made in genetics over the past two decades, while also signalling how far there is left to travel.’ -- Diane Stubbings * Australian Book Review *

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Book SynopsisCreation and Complexity are two themes that draw the sciences and theology together. The remarkable advances of science in the modern period have opened up new knowledge and revealed ever deepening layers of complexity in the world from the cosmic macro level to the micro world of quantum. There seems no end to the rich tapestry of the cosmic order and process. A science of complexity has been spawned. The discoveries of the sciences have been matched in the twentieth century by a renewal in the doctrine of creation. Behind this lies a renaissance in trinitarian thinking which offers fresh insight into the dynamic of God in creation - past, present and future. The complexity of the triune God in creation find echoes in the rich complexity of the world uncovered by the contemporary sciences.

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Book SynopsisRecommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their 'weeping with joy' as new drugs are approved, and shows how cystic fibrosis, once a 'death sentence,' became, for many, a manageable condition. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine.Trade Review"I couldn't put the book down." —Bill Gates “A thorough and engrossing saga packed with information, Breath from Salt is really about the transformative power of hope. It arrives at just the right moment, when too many of us have forgotten what human faith, ingenuity, and relentless determination can accomplish.” —Dan Fagin, author of the Pulitzer Prize–winning Toms River “Beautifully written, Breath from Salt brings to life the amazing story of a passionate community that dared to dream, work together, and take extraordinary risks to bring life-saving treatments to those with cystic fibrosis. Timely and important, the breakthroughs described in this book are likely to accelerate cures for many other genetic diseases.” —Dr. Preston W. Campbell, former president and CEO of the Cystic Fibrosis FoundationTable of ContentsContents Introduction Part IChapter 1: Hello, Joey 1974Chapter 2: The Treatment Plan 1974Chapter 3: Case 44: Babies Hospital, New York City 1935Chapter 4: A New Disease 1936–1937Chapter 5: An Equal Opportunity Disease 1938–1942Chapter 6: Christmas Homecoming 1974–1977Chapter 7: The Sweat Test 1943–1960Chapter 8: A Tribe of Desperate Parents 1950–1955Chapter 9: Lessons from Polio 1955–1960Chapter 10: The Registry 1960–1966Chapter 11: The Therapist 1977Chapter 12: A Disease in Search of Ideas 1964–1980Chapter 13: The Hitman Cometh 1979–1982Chapter 14: Salt and Water 1970–1981Chapter 15: Salty Boy 1981–1983Chapter 16: Birth of an Advocate 1984 Chapter 17: Out of Many, One 1978–1984 Part 2Chapter 18: The Gene Hunters 1980–1984Chapter 19: Lucky Number Seven 1984–1985Chapter 20: Kate 1986Chapter 21: To Screen or Not to Screen Newborns 1985Chapter 22: Michigan 1985Chapter 23: Joey’s Long Goodbye 1986Chapter 24: Mad Pursuit 1987Chapter 25: The Gene 1989Chapter 26: Runny, Like Water 1989–1994Chapter 27: Venture Philanthropy—A New Way to Fund Drug Development 1977–1999Chapter 28: The Gene Is the Medicine 1989–1991Chapter 29: Transforming the Lungs 1992–2003Chapter 30: First-in-Human Trials 1992–1993Chapter 31: The Beall Curve 1996 Part 3Chapter 32: The Joey Fund 1989–1999Chapter 33: A Network for Developing Therapeutic Drugs 1997–1998Chapter 34: Aurora 1998–1999Chapter 35: The Gates Open 1987–2000Chapter 36: A Tale of Four Families—CF in the New Millennium 1999Chapter 37: The Takeover 2001Chapter 38: Getting the Band Together 2001–2003Chapter 39: Pay to Play 2002–2004Chapter 40: Molecular Architects of Vertex West 2004–2005Chapter 41: Rat to Man 2003–2004Chapter 42: A Christmas Gift 2004–2005Chapter 43: The Lucky Four 2005–2007Chapter 44: The Doorman Launches the Era of Genetic Medicine 2007–2008Chapter 45: Disruption Fall 2008Chapter 46: Tasting like Average People 2010–2012Chapter 47: Milestones to a Cure 2004–2015Chapter 48: Tackling the Common Mutation 2004–2013Chapter 49: What Mutation Are You? 2013–2014Chapter 50: The Mother of All Deals 2014Chapter 51: Very Personal Clinical Trials 2021–2017Chapter 52: The Triple 2015–2017Chapter 53: The Home Stretch 2018Chapter 54: The Leftovers 2015–2020Chapter 55: A New Generation 2017–2020 Epilogue 2019–2020 AcknowledgmentsTimelineEndnotesAbout the Author

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Book Synopsis"A good companion for those with a science background interested in learning more about human genetics."—Booklist Thanks to the popularity of personal genetic testing services, it's now easier than ever to get information about our own unique DNA—but who does this information really benefit? And, as genome editing and gene therapy transform the healthcare landscape, what do we gain—and what might we give up in return? Inside each of your cells is the nucleus, a small structure that contains all of the genetic information encoded by the DNA inside, your genome. Not long ago, the first human genome was sequenced at a cost of nearly $3 billion; now, this same test can be done for about $1,000. This new accessibility of genome sequence information creates huge potential for advances in how we understand and treat disease, among other things. It also raises significant concerns regarding ethics and personal privacy. In Mapping Humanity: How Modern Genetics Is Changing Criminal Justice, Personalized Medicine, and Our Identities, cellular biology expert Joshua Z. Rappoport provides a detailed look at how the explosion in genetic information as a result of cutting-edge technologies is changing our lives and our world. Inside, discover: • An in-depth look at how your personal genome creates the unique individual that you are • How doctors are using DNA sequencing to identify the underlying genetic causes of disease • Why the field of gene therapy offers amazing potential for medical breakthroughs—and why it's taking so long • The fantastic potential—and troubling concerns—surrounding genome editing • The real impact—and validity—of popular personal genetic testing products, such as 23andMe • Details of how molecular biology and DNA are changing the criminal justice system • Facts you should know about Genetically Modified Organisms (GMOs) Throughout, in compelling, accessible prose, Rappoport explores the societal, ethical, and economic impacts of this new era. Offering a framework for balancing the potential risks and benefits of genetic information technologies and genetic engineering, Mapping Humanity is an indispensable guide to navigating the possibilities and perils of our gene-centric future.Trade Review“In Mapping Humanity, Joshua takes readers on a journey through the fascinating field of genetics. This book weaves together key scientific background information, exciting real-world applications, and important ethical issues in an accessible and engaging way.”—Marie McNeely, PhD, cofounder of People Behind the Science and Unfold Productions “This book will serve as a very current and approachable way for the public to better understand this very interesting time in genetics and genomics, where the combination of sequencing and DNA manipulation technologies has brought us, while revealing the ethical and societal impacts.”—Elaine Mardis, coexecutive director of the Institute for Genomic Medicine at Nationwide Children’s HospitalTable of ContentsContents IntroductionPart I: The Human Genome 101Chapter 1: The Basics of DNA, Chromosomes, and GenesChapter 2: Gene Mutations and PolymorphismsPart II: DNA Sequencing MethodsChapter 3: Sequencing DNAChapter 4: Next-Generation SequencingChapter 5: Big Data!Part III: Applications for Genomic InformationChapter 6: AncestryChapter 7: Neanderthal DNAChapter 8: Genetic ScreeningChapter 9: Genomic JusticeChapter 10: Classical Methods to Search for Disease-Causing MutationsChapter 11: Genome-Wide Association StudiesChapter 12: Twenty-First Century Eugenics?Chapter 13: DNA and Prenatal Genetic TestingChapter 14: PharmacogenomicsChapter 15: Personalized MedicineChapter 16: Gene TherapyPart IV: Genetic EngineeringChapter 17: CRISPR—Clustered Regularly Interspaced Short Palindromic RepeatsChapter 18: CRISPR Babies?Chapter 19: GMOs—Genetically Modified OrganismsChapter 20: The Future of Food?Chapter 21: Pets—Ancestry, Health, and CloningChapter 22: Conservation and EradicationPart V: Beyond the GenomeChapter 23: The Basics of EpigeneticsChapter 24: Epigenetics in ActionChapter 25: Mitochondrial DNAChapter 26: The Future ReferencesIndexAcknowledgmentsAbout the Author

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Book SynopsisPractical, approachable, and perfect for today’s busy medical students and practitioners, BRS Biochemistry, Molecular Biology, and Genetics, 8th Edition, provides a comprehensive yet concise review to help ensure excellence on class exams and the USMLE Step 1. The renowned Board Review Series outline format offers efficient content review enhanced by key learning aids, clinical correlations, and USMLE-style questions to reinforce understanding and test preparation. Aligned with recent changes in medical education and board exams, this updated edition emphasizes clinically relevant information to boost confidence and support a smooth transition to medical practice. UPDATED! Content reflects the latest clinical approaches, including enhanced coverage of porphyria. UPDATED! More than 750 USMLE-style review questions in the text and available online strengthen retention and test-taking confidence. UPDATED! Clinical Pearls demonstrate the practical application of chapter concepts. Popular Board Review Series outline format saves time and streamlines review. 150-question Comprehensive Exam provides critical board review practice.   

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Book SynopsisThis work which was published to mark the tenth anniversary of the collaboration between the Institut Pasteur and the Riken Institute in Japan, covers a number of research fields in which both laboratories are active: precocious development in mice and the effect on them of disactivating genes, nuclear oncogenes and their role in controlling cell division, and the molecular bases of bacterial and viral infections. There are also chapters dealing with specific aspects of immune recognition, the genetics of sexual determination in humans and a new technique for studying the human genome. This book is intended for researchers and physicians in the fields of immunology, genetics, bacteriology/virology, cancerology, developmental biology, cellular biology and neurobiology.

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Book SynopsisThis book provides case studies that can be used in Systems Biology related classes. Each case study has the same structure which answers the following questions: What is the biological problem and why is it interesting? What are the relevant details with regard to cell physiology and molecular mechanisms? How are the details put together into a mathematical model? How is the model analyzed and simulated? What are the results of the model? How do they compare to the known facts of the cell physiology? Does the model make predictions? What can be done to extend the model? The book presents a summary of results and references to more relevant sources.The volume contains the classic collection of topics and studies that are well established yet novel in the systems biology field. Table of Contents

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Book SynopsisOver the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.Table of ContentsChapter 1: Genetic testing, some themes and some basics· Brief introduction to genetic testing. · Themes o Complexity o Risk and uncertainty o DNA and identities o Future promises and limitations · Genetic basics o Information storage and copying o Chromosomes and inheritance patterns o Genes in genomes (nuclear and mitochondrial) o Transcription, translation and the genetic code o Mutation · Basic techniques of genetic testing o DNA extraction o Hybridisation o PCR and DNA amplification o Electrophoresis o DNA sequencing Chapter 2: Huntington disease, a severe autosomal recessive disorder · Huntington disease (HD) · Mutation mechanism and gain of function · Trinucleotide repeat expansions · Penetrance and genotype/phenotype correlation · Anticipation · Testing for HD and test metrics · Rationales for testing · Laboratory error · Ethical problems (sharing information) Chapter 3: Autosomal recessive inheritance and cystic fibrosis · Cystic fibrosis (CF) · Spectrum of mutations · Recessive disorders in populations (founder effect) · Testing for CF · Rationales for testing including neonatal screening · Prenatal diagnosis and ethical issues · Genetics and therapy for CF · Risk and uncertainty Chapter 4: X-linked inheritance: a question of gender · Chromosome number / balance (XX vs. XY) and X-inactivation · DNA methylation and epigenetics · DMD/BMD (genotype/phenotype correlation) · Mosaicism · Sharing genetic information · Androgen receptor gene and different phenotypes · Genetics and gender Chapter 5: Cancer genetics: acquired and inherited mutations · Cancer as a genetic disease · Tumour suppressors and oncogenes in the control of growth · Somatic/germline distinction · Genetic stratification and cancer treatment · Uncertainties and predictive testing · Future possibilities: liquid biopsy / ctDNA Chapter 6: Genes and identity · Forensic and laboratory identity testing · Uses of short tandem repeat markers in diagnostic genetics · DNA as a measure of identity · Relationships within and outside humanity · Problems with the concept of personal identity Chapter 7: Genome scale testing · Development of methods from chromosome analysis to next generation sequencing · Testing strategies (whole genome, whole exome, gene panels) · Utility of genome testing (many genes examined simultaneously, new causes identified, NIPD, cancer testing, de novo changes) · Assigning pathogenicity · Polygenic / multifactorial inheritance · Limitations and the ethics of inflated claims Chapter 8: DNA testing- pulling the strands together · Fundamentals of genetic testing and access to testing · Consent · Autonomy · Avoiding harm · Uncertainty, risk and biases · Benefits of genetics · The language of genetics (in the genetic code and in everyday language) Appendix: List of technical terms with page references to a definition in the text

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Book SynopsisThis highly illustrated textbook provides an essential overview on RNA architecture and function, it offers insights into the RNA basics and also explains novel RNA technologies, such as CRISPR-Cas and their applications. In addition, the mRNA based vaccine technology, which has long been tested, also before the COVID-19 pandemic, is discussed and students receive a basic understanding of this important medical application.The textbook is written by Prof. Grover in collaboration with her students and has an easily accessible style. The book provides a great tool for young researchers and students in biology, biomedical engineering or biochemistry, looking for a compact introduction or refresher work on RNA, including the newest findings and technologies. It is an ideal starter to learn about several RNA specific topics and to research them further.Table of Contents1. RNA-Composition and Base Pairing.- 2. Architecture of RNA.- 3. Small Catalytic RNA.- 4. The Spliceosome: A Large Catalytic RNA.- 5. A Genomic Perspective on RNA.- 6. The mRNA and the New Vaccines.- 7. Riboswitches: Sensors and Regulators.- 8. Small Non-Coding RNA, miRNA in Gene Regulation.- 9. CRISPR-Cas Systems, The science and ethics of gene manipulation.- 10. Transcription.

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Book SynopsisThe 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. Table of ContentsIntroduction Section 1. Substance use phenotyping Chapter 1. Substance use: disorders and continuous traits Chapter 2. Neurobiological systems in substance use Chapter 3. Psychological mechanisms of substance use Section 2. Biometric genetic studies in substance use Chapter 4. Twin studies Chapter 5. Family and adoption studies Section 3. Genomic studies in substance use Chapter 6. Gene mapping in complex disorders Chapter 7. Linkage and association studies Chapter 8. Epigenomic studies Conclusions

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Book SynopsisNow in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.Table of ContentsContents Preface Part I: Introduction 1 Social Attitude towards Disabled People – Historical and Cultural Aspects 1.1 Monstrosities: Consequence of Sin versus Play of Nature 1.2 „Cripples“: The Power of Imagination, Crippled Mind and Show Business 1.3 Changing Social Attitude 2 The Role of Ethics Committees 3 Quality Control in the Field of Diagnostics 4 Types of Chromosome Mutations 4.1 Intrachromosomal Rearrangements 4.1.1 Inversions 4.1.1.1 Pericentric Inversions 4.1.1.2 Paracentric Inversions 4.1.2 Deletions 4.1.3 Duplications 4.1.4 Ring Chromosomes 4.1.5 Isochromosomes 4.2 Interchromosomal Rearrangements 4.2.1 Translocations 4.2.1.1 Reciprocal Translocations 4.2.1.2 Robertsonian Translocations or Centric Fusions 4.2.2 Insertions 4.2.3 Complex Chromosome Rearrangements (CCR) 4.2.4 Marker Chromosomes (Chromosome Derivates) 5 Heteromorphisms 5.1 Euchromatic Variants 5.2 Satellites 5.3 Nucleolus Organising Regions (NOR-Region) 5.4 Pericentromeric Heterochromatin 5.5 Centromere 5.6 Heterochromatic Blocks Part II: Single Case Presentations of Intrachromosomal Rearrangements 6 Inversions 7 Deletions 8 Duplications 9 Ring Chromosomes 10 Isochromosomes Part III: Single Case Presentations of Interchromosomal Rearrangements 11 Translocations 12 Insertions 13 Complex Chromosome Rearrangements (CCR) 14 Marker Chromosomes 15 Mutations in Non-Coding DNA Regions 15.1 Euchromatic Variants 15.2 Satellites 15.3 Nucleolus Organising Regions (NOR-Regions) 15.4 Pericentromeric Heterochromatin 15.5 Centromeres 15.6 Heterochromatic Blocks Part IV: Guidelines 16 Genetic Counseling Procedures 16.1 Overview 16.2 Case Reports 16.2.1 Carrier of Unbalanced Translocation 16/21 de novo 16.2.2 Familial Translocation Y/22 16.2.3 Familial Translocation 4/22 16.2.4 Homologous Translocation 2/2 de novo 16.2.5 Mosaic Translocation Trisomy 21 17 Life Courses 17.1 Overview 17.2 Case Reports 17.2.1 Carrier of Interstitial Deletion 9q de novo 17.2.2 Carrier of Unbalanced Translocation 14/21 17.2.3 Carrier of a Duplication 3q derived from a Familial Translocation 17.2.4 Carrier of an Interstitial Duplication 3q de novo 17.2.5 Carrier of a Terminal Deletion 18q de novo 18 Support Groups 19 Diagnostic Procedere 20 Outlook References Acknowledgement

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Book SynopsisThis book entitled “Cancer Stem Cell Markers and Related Network Path-ways” is about cancer stem cell (CSC) markers and the molecular network pathways. CSCs play an important role in the cancer drug resistance, metastasis and recurrence. Epithelial-mesenchymal transition (EMT) is closely related to CSC phenotype.This book covers various aspects of the molecular networks related to CSCs including the important phenotypic change such as EMT. Readers will discover the importance of the identification of CSC markers and EMT-related molecules in CSC network pathways.The CSC signaling pathways and EMT molecular network pathways attract researchers in the field to define the cancer therapeutic targets. Cancer environment is important in the acquisition of CSC phenotype in cells. The revealing of this CSC mystery is across 7 chapters. The topic of this book is particularly relevant to research in the field of cancer and stem cells, as well as the network pathways. We hope that this book helps the readers to be interested in understanding why the CSC concept is important and attractive.Table of Contents​1. Epithelial-mesenchymal transition and cancer stem cellsby Shihori Tanabe2. The transcription factors Zeb1 and Snail induce cell malignancy and can-cer stem cell phenotype in prostate cells, increasing androgen synthesis ca-pacity and therapy resistanceby Fernanda López-Moncada, Enrique A Castellón, Héctor R Contreras3. ERBB signaling pathway in cancer stem cellsby Ghmkin Hassan and Masaharu Seno4. Functional and molecular characters of cancer stem cells through devel-opment to establishmentby Said M Afify, Ghmkin Hassan, Hiroko Ishii, Sadia Monzur, Hend M Nawara, Amira Osman, Hagar A Abu Quora, Mona Sheta, Maram H Zah-ra, Akimasa Seno, Masaharu Seno5. Microenvironment in cancer stem cellsby Shihori Tanabe6. Cancer stem cells contribute to drug resistance in multiple different waysby Maram H Zahra, Hend M Nawara, Ghmkin Hassan, Said M Afify, Akimasa Seno, Masaharu Seno7. Abnormal glycosylation in cancer cells and cancer stem cells as a thera-peutic targetby Sabina Quader, Shihori Tanabe, Horacio Cabral

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Book SynopsisPart I Introduction.- 1. Historical Perspective of Human Ring Chromosomes.- 2. Diagnostic Methods for Ring Chromosomes.- 3. Genetic Databases and Online Ring Chromosome Registry.- 4. Advocate Activities and Patient-centered Approaches.- Part II Constitutional Ring Chromosomes.- 5. Ring Chromosome 1.- 6. Ring Chromosome 2.- 7. Ring Chromosome 3.- 8. Ring Chromosome 4.- 9. Ring Chromosome 5.- 10. Ring Chromosome 6.- 11. Ring Chromosome 7.- 12. Ring Chromosome 8.- 13. Ring Chromosome 9.- 14. Ring Chromosome 10.- 15. Ring Chromosome 11.- 16. Ring Chromosome 12.- 17. Ring Chromosome 13.- 18. Ring Chromosome 14.- 19. Ring Chromosome 15.- 20.- Ring Chromosome 16.- 21. Ring Chromosome 17.- 22. Ring Chromosome 18.- 23. Ring Chromosome 19.- 24. Ring Chromosome 20.- 25. Ring Chromosome 21.- 26. Ring Chromosome 22.- 27. Ring Chromosome X.- 28. Ring Chromosome Y.- 29. Supernumerary Small Ring Chromosomes.- 30. Ring Chromosomes from Patients' Perspective.- Part III Somatic Ring Chromosomes.- 31. Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues.- 32. Acquired Ring Chromosomes in Solid Tumors.- Part IV Ring Chromosome Research.- 33. Molecular Mechanisms of Ring Chromosome Formation and Instability.- 34. iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy.- 35. Genetic Mosaic Analysis in Model Organisms.

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