Download or read book Genetic and Evolutionary Studies on Imprinted Genes and Human Behavior with Special Reference to Prader Willi Syndrome written by Iiro Salminen and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic imprinting may have evolved due to an evolutionary conflict between alleles of different parental origin, carried by the mother and her offspring, which may be differently related to one's kin. Thus, genomic imprinting may be expected to highlight genes affecting regulatory mechanisms of behavior that may alter the distribution of maternal resources among offspring. The altered behavioral phenotypes shown in neurodevelopmental disorders that involve a lack of expression for one or several imprinted genes, may be further interpreted to represent extreme and dysfunctional phenotypes of human behavior. I have applied the kinship model for evolution of genomic imprinting to relevant literature on neurodevelopmental syndromes of genomic imprinting to address two questions central to understanding how genes interact with neural systems and regulate human behavior. Firstly, I propose how the evolution of genomic imprinting may be reflected in the behavioral phenotypes of the Prader-Willi- and Angelman syndromes (PWS and AS). Secondly, I ask if genetic variation of imprinted genes circulating in typical human populations might also affect non-clinical variation in human behaviors that may be partially co-regulated by imprinted genes. In chapter 2, I show that genetic variation for the maternally expressed UBE3A which is affected in both AS and PWS may also affect non-clinical variation in phenotypes of schizotypy among typically developing individuals. In chapter 3, I review evidence from relevant literature and evaluate whether phenotypes of sleep and eating in PWS and AS may be partly opposite to one another and propose hypotheses on how evolution of genomic imprinting may be reflected in the neural and behavioral phenotypes of AS and PWS. In chapter 4, I show that genetic variation of the paternally expressed SNORD116 gene, which shows a lack of expression in PWS, may also affect non-clinical variation in schizotypy among typically developing females. Finally, in chapter 5, I show that non-clinical variation in phenotypes of depression, schizotypy, autism spectrum cognition, social anxiety, sleep problems and emotional eating show significant co-variation in a population of typical individuals. The pattern of co-variation shown may reflect influences of genetic regulatory mechanisms involved in hypothalamic neural pathways, which have been shown to jointly alter the phenotypes of sleep, feeding and behavior. Behavioral phenotypes which are co-regulated by hypothalamic pathways may also be affected by variation of imprinted genes as several paternally expressed imprinted genes have also been shown to exert effects on hypothalamic pathways. In summary, I show that paternally and maternally expressed imprinted genes may exert partly opposite effects on human behaviors that may alter phenotypes affecting the distribution of maternal resources among offspring. These behavioral alterations may further reveal genetic and neural mechanisms affecting human behaviors and may thus hold further implications for mental health and well-being both in clinical settings and among healthy individuals.

Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Download or read book Prader Willi Syndrome written by Joyce Whittington and published by Cambridge University Press. This book was released on 2004-04-22 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs. Information about the syndrome is spread across a variety of disciplines. In this book the authors seek to identify and provide the latest findings about how best to manage the complex medical, nutritional, psychological, educational, social and therapeutic needs of people with PWS. Their approach is an integrated one, centred on the PWS phenotype. Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.

Download or read book DNA and Destiny written by R. Grant Steen and published by Springer. This book was released on 2013-11-11 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book shows that, to understand the human condition better, we must develop a keener appreciation for the subtle interactions between nature and nurture. First, Dr. Steen confronts the dark history of eugenics, and the horrifying legacy of the Nazis. He then proceeds to illuminate the latest advances in molecular biology and behavioral genetics. He explains fascinating results that have emerged from "split-twin" experiments, in which eerie parallels were found between twins separated at birth. He clarifies how the Human Genome Project might help create a new understanding of the human condition and how it may ultimately help alleviate some of the major health and even behavioral problems facing society today

Download or read book Prader Willi Syndrome written by Mary L. Caldwell and published by Springer. This book was released on 1988 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi Syndrome: Selected Research and Management Issues investigates the most recent developments in the diagnosis and management of individuals with the syndrome. This volume is not intended as a comprehensive review, but as a source of new, original research on this little understood syndrome. Alternative methods of identification and treatment are considered, and issues related to the nonmedical characteristics are explored.

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book Behavior Genetics of Cognition Across the Lifespan written by Deborah Finkel and published by Springer Science & Business Media. This book was released on 2013-07-09 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Along with psychopathology, cognition has been one of the primary phenotypic focal points of the field of behavior genetics since its inception. Francis Galton’s 1874 examination of eminent families in Britain was among the earliest attempts to investigate whether cognitive achievements run in families. This volume presents current methodologies for understanding cognitive abilities that move beyond the outdated nature vs. nurture paradigm. Recent advances in both collection and statistical modeling of twin data, particularly longitudinal twin data, make this an especially advantageous moment to produce a work that presents a collection of the groundbreaking research on cognitive abilities across the lifespan. This volume presents an overview of the current state of quantitative and molecular genetic investigations into the many facets of cognitive performance and functioning across the lifespan.​

Download or read book Behavior Genetics of Psychopathology written by Soo Hyun Rhee and published by Springer Science & Business Media. This book was released on 2014-02-03 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: As a dynamic, interdisciplinary field, behavior genetics and its evolution are being followed closely by scientists across the psychological and medical domains. The discoveries surrounding the human genome and the advancement in molecular genetic technologies have led to studies becoming increasingly sophisticated and yielding yet more conclusive and useful results. This is certainly the case in the area of child and adult psychopathology. Behavior Genetics of Psychopathology summarizes the state of the field, examining the role of genes and environment as they affect common neurodevelopmental and psychiatric conditions. Emphasizing key research areas (comorbidities, twin studies, the integration of methods), the book assesses the current literature, offers up-to-date findings, sorts through lingering controversies, and identifies a clear future agenda for the field. Expertly-written chapters focus on issues of both general salience that shape behavior genetics of psychopathology, to specific disorders of major clinical importance, among them: ADHD: the view from quantitative genetic research. Autism spectrum disorders and their complex heterogeneity Genetic influences on anxiety and depression in childhood and adolescence. Evidence for etiologically-defined subgroups within the construct of antisocial behavior. Sleep and psychopathology: the reasons for their co-occurrence. Behavioral genetic approaches to the etiology of comorbidity. Epigenetics of psychopathology. This combination of timeliness and depth of coverage make Behavior Genetics of Psychopathology a frontline resource for behavior geneticists, psychologists, psychiatrists, and neuroscientists, and is perfectly suited to graduate students looking to join these fields.

Download or read book Management of Prader Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Download or read book Genetics of Prader Willi Syndrome written by Merlin G. Butler and published by Mdpi AG. This book was released on 2022-10-11 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if detected early. PWS is usually caused by the loss of the paternally inherited 15q11.2-q13 region and abnormal expression of genes within that region and beyond. While some genotype-phenotype correlations with delineation of clinical characteristics and natural history have emerged when comparing the three main molecular classes of PWS (maternal uniparental disomy (UPD) 15, imprinting centre defect, and deletion of paternal 15q11-q13), better awareness and informative biomarkers are still needed. These could facilitate early diagnosis, counseling, prognostic testing, as well as patient stratification for clinical trials, to improve outcomes for the affected children and their families. This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics, testing, and epigenetic processes along with clinical description, co-morbidities, and natural history of PWS. Current and future directions with focus on improved screening, diagnosis, and treatment will be addressed in this rare neurodevelopmental genetic imprinting disorder influenced by the PWS genetic subtypes.

Download or read book The Oxford Handbook of Developmental Psychology Vol 1 written by Philip David Zelazo and published by Oxford University Press. This book was released on 2013-03-21 with total page 1049 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides a comprehensive survey of what is now known about psychological development, from birth to biological maturity, and it highlights how cultural, social, cognitive, neural, and molecular processes work together to yield human behavior and changes in human behavior.

Download or read book Nature and Nurture written by Robert Plomin and published by Wadsworth Publishing Company. This book was released on 1990 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: * Brief, accessible overview of methods and findings of behavioral genetics written by a leading scholar in the field.

Download or read book Genetics of Prader Willi syndrome written by Merlin G. Butler and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if detected early. PWS is usually caused by the loss of the paternally inherited 15q11.2-q13 region and abnormal expression of genes within that region and beyond. While some genotype-phenotype correlations with delineation of clinical characteristics and natural history have emerged when comparing the three main molecular classes of PWS (maternal uniparental disomy (UPD) 15, imprinting centre defect, and deletion of paternal 15q11-q13), better awareness and informative biomarkers are still needed. These could facilitate early diagnosis, counseling, prognostic testing, as well as patient stratification for clinical trials, to improve outcomes for the affected children and their families. This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics, testing, and epigenetic processes along with clinical description, co-morbidities, and natural history of PWS. Current and future directions with focus on improved screening, diagnosis, and treatment will be addressed in this rare neurodevelopmental genetic imprinting disorder influenced by the PWS genetic subtypes.

Download or read book Prader Willi Syndrome written by Charlotte Höybye and published by . This book was released on 2013-01-01 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterized by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In newborns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organizations, and from a parent to a PWS patient.

Download or read book Introduction to Epigenetics written by Renato Paro and published by Springer Nature. This book was released on 2021-03-23 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access textbook leads the reader from basic concepts of chromatin structure and function and RNA mechanisms to the understanding of epigenetics, imprinting, regeneration and reprogramming. The textbook treats epigenetic phenomena in animals, as well as plants. Written by four internationally known experts and senior lecturers in this field, it provides a valuable tool for Master- and PhD- students who need to comprehend the principles of epigenetics, or wish to gain a deeper knowledge in this field. After reading this book, the student will: Have an understanding of the basic toolbox of epigenetic regulation Know how genetic and epigenetic information layers are interconnected Be able to explain complex epigenetic phenomena by understanding the structures and principles of the underlying molecular mechanisms Understand how misregulated epigenetic mechanisms can lead to disease

Download or read book Progress in Human Behavior Genetics written by Steven G. Vandenberg and published by . This book was released on 1968-12-01 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Handbook of Epigenetics written by Trygve O Tollefsbol and published by Academic Press. This book was released on 2017-07-10 with total page 684 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine Written at a verbal and technical level that can be understood by scientists and college students Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials