Molecular Diagnosis of Genetic Diseases

 Genetics  Comments Off on Molecular Diagnosis of Genetic Diseases
Feb 172019
 

Expert clinical investigators present their best and most reliable methods for the molecular diagnosis of common genetic disorders. The methods-organized by disease or diagnostic area-are robust and reproducible. They contain not only essential day-to-day benchtop wisdom and instruction, but also offer possibilities for introducing new molecular genetic diagnostic tests, as well as invaluable advice on controls, quality standards, and interpretation. Among the genetic diseases discussed are Duchenne/Becker muscular dystrophy, familial adenomatous polyposis, X-chromosome inactivation, Prader-Willi and Angelman syndromes, Huntington’s disease, myotonic dystrophy, fragile X disease, cystic fibrosis, familial hypochloresterolemia, and the hemoglobinopathies.
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Genetic and Molecular Epidemiology of Multiple Myeloma

 Epidemiology, Genetics  Comments Off on Genetic and Molecular Epidemiology of Multiple Myeloma
Feb 152019
 

Multiple myeloma is a plasma cell malignancy characterized by complex heterogenous cytogenetic abnormalities that accounts for 1.4% of all cancers, and approximately 10% of hematologic malignancies. The clinical manifestations of multiple myeloma include lytic bone lesions, cytopenia, hypercalcemia, renal dysfunction, hyperviscosity of the blood, immunodeficiency, and peripheral neuropathy. Based on the clinical and genetic data, probably all cases of multiple myeloma arise from an asymptomatic monoclonal gammopathy of unknown significance. The exact mechanism of the transition from MGUS to overt multiple myeloma is still not well understood. Recent oncogenomic studies have further advanced our understanding of the molecular pathogenesis of multiple myeloma. This book will give a comprehensive overview of the genetic and molecular epidemiology of multiple myeloma in order to get a more refined and conclusive understanding of this disease.
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Genetic Analysis of Complex Diseases, Second Edition

 Genetics  Comments Off on Genetic Analysis of Complex Diseases, Second Edition
Feb 102019
 

Second Edition features the latest tools for uncovering the genetic basis of human disease The Second Edition of this landmark publication brings together a team of leading experts in the field to thoroughly update the publication. Readers will discover the tremendous advances made in human genetics in the seven years that have elapsed since the First Edition. Once again, the editors have assembled a comprehensive introduction to the strategies, designs, and methods of analysis for the discovery of genes in common and genetically complex traits. The growing social, legal, and ethical issues surrounding the field are thoroughly examined as well. Rather than focusing on technical details or particular methodologies, the editors take a broader approach that emphasizes concepts and experimental design. Readers familiar with the First Edition will find new and cutting-edge material incorporated into the text: Updated presentations of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environment interactions A completely rewritten and updated chapter on determining genetic components of disease New chapters covering molecular genomic approaches such as microarray and SAGE analyses using single nucleotide polymorphism (SNP) and cDNA expression data, as well as quantitative trait loci (QTL) mapping The editors, two of the world’s leading genetic epidemiologists, have ensured that each chapter adheres to a consistent and high standard. Each one includes all-new discussion questions and practical examples. Chapter summaries highlight key points, and a list of references for each chapter opens the door to further investigation of specific topics. Molecular biologists, human geneticists, genetic epidemiologists, and clinical and pharmaceutical researchers will find the Second Edition a helpful guide to understanding the genetic basis of human disease, with its new tools for detecting risk factors and discovering treatment strategies.Content: Chapter 1 Basic Concepts in Genetics and Linkage Analysis (pages 1–49): Elizabeth C. Melvin and Marcy C. SpeerChapter 2 Defining Disease Phenotypes (pages 51–89): Arthur S. AylsworthChapter 3 Determining Genetic Component of a Disease (pages 91–115): Allison Ashley?KochChapter 4 Patient and Family Participation in Genetic Research Studies (pages 117–151): Chantelle Wolpert, Amy Baryk Crunk and Susan Estabrooks HahnChapter 5 Collection of Biological Samples for DNA Analysis (pages 153–166): Jeffery M. VanceChapter 6 Methods of Genotyping (pages 167–192): Jeffery M. VanceChapter 7 Data Analysis Issues in Expression Profiling (pages 193–217): Simon Lin and Michael HauserChapter 8 Information Management (pages 219–235): Carol Haynes and Colette BlachChapter 9 Quantitative Trait Linkage Analysis (pages 237–253): Jason H. MooreChapter 10 Advanced Parametric Linkage Analysis (pages 255–281): Silke SchmidtChapter 11 Nonparametric Linkage Analysis (pages 283–328): Elizabeth R. Hauser, Jonathan Haines and David E. GoldgarChapter 12 Linkage Disequilibrium and Association Analysis (pages 329–353): Eden R. MartinChapter 13 Sample Size and Power (pages 355–396): Yi?Ju Li, Susan Shao and Marcy SpeerChapter 14 Complex Genetic Interactions (pages 397–421): William K. Scott and Joellen M. SchildkrautChapter 15 Genomics and Bioinformatics (pages 423–454): Judith E. Stenger and Simon G. GregoryChapter 16 Designing a Study for Identifying Genes in Complex Traits (pages 455–468): Jonathan L. Haines and Margaret A. Pericak?Vance
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Principles and Practice of Geriatric Psychiatry, Second Edition

 Genetics, Psychiatry  Comments Off on Principles and Practice of Geriatric Psychiatry, Second Edition
Feb 052019
 

As the global population ages, all disorders related to ageing are of greater interest to researchers, but none more so than mental disorders. Consequently, geriatric psychiatry has emerged in the last two decades as an important clinical and scientific discipline. The 2nd Edition of this very successful book brings the reader up-to-date on the most recent advances in this area as well as a diverse range of other fields. Drawing on the knowledge of leading international experts the book encompasses the range of scientific and clinical disciplines relevant to mental health in old age, from neuroscience and molecular pathology, psychology and sociology, to community care, management and organisation. A comprehensive, well-respected reference work, essential for everyone working in this relatively new specialty. Covers the whole range of mental illness in old age in detail with chapters on normal mental and cognitive ageing. Includes UK and US approaches to care as well as sampling the problem of ageing in a number of other countries. Content: Chapter 1 A Conceptual History in the Nineteenth Century (pages 3–6): G. E. BerriosChapter 2 Scope and Development in the Twentieth Century (pages 7–8): Ewald W. BusseChapter 3 The Development in Britain (pages 9–11): Tom ArieChapter 4a The Development in the USA, 1600–1900 (pages 13–14): W. Andrew Achenbaum, Crystal Cederquist, Vicki Kahl and Kathryn RosenbergChapter 4b In the Beginning (pages 15–16): The Late F. PostChapter 5 General Theories of Aging (pages 19–22): Ewald W. BusseChapter 6 Structural Changes in the Aging Brain (pages 23–24): Gandis Mazeika and P. Murali DoraiswamyChapter 7 Anatomy of the Aging Brain (pages 25–43): John J. Campbell and C. Edward CoffeyChapter 8 Quantitative Structural Changes in the Ageing Brain (pages 45–46): Bente Pakkenberg, Lisbeth Regeur and Hans Jorgen G. GundersenChapter 9 Neuroendocrinology of Ageing (pages 51–55): R. A. Burns and Mohammed T. Abou?SalehChapter 10 Neurophysiology of Ageing as Reflected by Electroencephalogram (EEG) and Event?related Potentials (ERPs) (pages 57–60): D. H. R. Blackwood, W. J. Muir and H. ForstlChapter 11 Pharmacokinetic and Pharmacodynamic Considerations in Old Age Psychopharmacology (pages 61–64): Fabrizio SchifanoChapter 12 Normal Ageing—A Problematical Concept (pages 65–68): D. B. BromleyChapter 13 Chronological and Functional Ageing (pages 71–74): Jack M. Guralnik and David MelzerChapter 14 Life Satisfaction (pages 75–77): Linda K. GeorgeChapter 15 The Normal Aged among Community?dwelling Elders in the UK (pages 79–81): Christina VictorChapter 16 World Statistical Trends and Prospects (pages 87–89): George C. MyersChapter 18 The Natural History of Psychiatric Disorders: Early?onset Disease in Late Life and Late?onset Illness (pages 99–102): Judith HaysChapter 19 Mortality and Mental Disorders (pages 103–104): Michael E. DeweyChapter 20 Long?term Outcome Studies of Psychiatric Disorders: Methodological Issues and Practical Approaches to Follow?up (pages 105–108): Ann Stueve, John Toner and Anne V. QuismorioChapter 17 The Influence of Social Factors on Mental Health (pages 95–98): David Mechanic and Donna D. McAlpineChapter 21 The Importance of Multidimensional Assessment in Clinical Practice (page 111): M. Robin Eastwood and Abhilash DesaiChapter 22 Classification of Dementia and Other Organic Conditions in ICD?10 (pages 113–115): A. Jablensky and J. E. CooperChapter 23 Psychiatric Diagnosis and Old Age: New Perspectives for “DSM?IV?TR” and Beyond (pages 117–121): Eric D. CaineChapter 24 History and Mental Status Examination (pages 123–126): Hallie N. Richards and Gabe J. MalettaChapter 25 The Physician’s Role (pages 127–132): Lesley YoungChapter 26 Needs and Problems (pages 133–136): Barry J. GurlandChapter 27 Non?computerized Assessment Procedures: Fundamental Assessment Issues (pages 137–140): P. LogueChapter 28 Computer Methods of Assessment of Cognitive Function (pages 147–151): T. W. Robbins and Barbara J. SahakianChapter 29 The Assessment of Depressive States (pages 153–156): Thomas R. Thompson and William M. McDonaldChapter 30 The Development of the EURO?D Scale (pages 159–160): Martin PrinceChapter 31 Interviews Aimed at Differential Psychiatric Diagnosis. GMS–HAS–AGECAT Package (pages 161–162): John R. M. CopelandChapter 32 Assessment of Daily Living (pages 165–167): Kerstin Hulter AsbergChapter 33 Rating Scales Designed for Nurses and Other Workers (pages 169–171): Kenneth C. M. Wilson, Ben Green and P. MottramChapter 34 Comprehensive Interviews. OARS Methodology (page 173): Gerda G. FillenbaumChapter 35 Delirium—An Overview (pages 179–182): Andrew F. FairburnChapter 36 Nosology of Dementia (pages 185–189): Ingmar Skoog and John R. M. CopelandChapter 37 Early Detection (pages 191–193): Scott HendersonChapter 38 Dementia Epidemiology: Prevalence and Incidence (pages 195–197): A. F. JormChapter 39 Case?control Studies (pages 199–200): Scott HendersonChapter 40 The Epidemiology of Alzheimer’s Disease: An Update (pages 205–208): Lenore J. LaunerChapter 41 The Genetics of Alzheimer’s Disease (pages 213–217): B. L. Plassmann and J. C. S. BrietnerChapter 42 The Neuropathology of Alzheimer’s Disease (pages 223–226): David M. A. MannChapter 43 Neurotransmitter Changes in Alzheimer’s Disease: Relationships to Symptoms and Neuropathology (pages 229–232): Paul T Francis and Elaine K. PerryChapter 44 Antemortem Markers (pages 233–236): Susan J. Van Rensburg, Felix C. V. Potocnik and Dan J. SteinChapter 45 Clinical Features of Senile Dementia and Alzheimer’s Disease (pages 237–240): Brice PittChapter 46 Assessment and Management of Behavioural and Psychological Symptoms of Dementia (BPSD) (pages 241–244): Rupert McShane and Niall GormleyChapter 47 Pathology of Vascular Dementia (pages 247–248): J. M. MacKenzieChapter 48 Vascular Dementia (pages 251–255): Peter HumphreyChapter 49 Neuropathology: Other Dementias (pages 259–263): J. M. MacKenzieChapter 50a Dementia and Parkinson’s Disease (pages 265–267): Richard B. Godwin?AustenChapter 50b Subcortical Dementia (pages 269–271): J. R. BurkeChapter 50c Early?onset Dementias (pages 273–275): Gandis MazeikaChapter 51a Creutzfeldt—Jakob Disease and Other Degenerative Causes of Dementia (pages 277–280): T. F. G. EsmondeChapter 51b Frontotemporal Dementia (Pick’s Disease) (pages 281–283): John R. HodgesChapter 52 Alcoholic and Other Toxic Dementias (pages 285–287): E. M. JoyceChapter 53 Reversible Dementias (pages 289–292): Michael Philpot and Jerson PereiraChapter 54 Differential Diagnosis of Dementia (pages 293–296): Charlotte Busby and Alistair BurnsChapter 55a Distinguishing Depression from Dementia (pages 297–302): William E. Fox and David C. SteffensChapter 55b Benign Senescent Forgetfulness, Age?associated Memory Impairment, and Age?related Cognitive Decline (pages 303–304): Kathleen A. Welsh?Bohmer and David J. MaddenChapter 56 Minor Cognitive Impairment (pages 305–306): Karen Ritchie and Jacques TouchonChapter 57 Acute Management of Dementia (pages 313–316): Brice PittChapter 58a Present and Future Treatments of Alzheimer’s Disease (pages 317–323): Lawrence J. Whalley and John M. StarrChapter 58b Possible Future Treatments and Preventative Strategies for Alzheimer’s Disease (pages 325–326): Simon LovestoneChapter 59a Psychological and Psychosocial Interventions (pages 327–329): Edgar MillerChapter 59b Informal Carers and Their Support (pages 331–333): D. BuckChapter 60 The Psychiatric Manifestations of CNS Malignancies (pages 335–339): M. Glantz and E. MasseyChapter 61 Peripheral Neuropathy and Peripheral Nerve Lesions (pages 341–344): Janice M. Massey and E. Wayne MasseyChapter 62 Electroencephalography (EEG) (pages 345–349): The Late George W. FentonChapter 63 Computed Tomography (CT) (pages 351–354): Alistair Burns and Godfrey PearlsonChapter 64 Magnetic Resonance Imaging (pages 355–356): K. Ranga R. KrishnanChapter 65 Functional Magnetic Resonance Imaging (fMRI) (page 357): K. Ranga R. KrishnanChapter 66 Positron Emission Tomography (PET) (pages 359–362): Peter F. Liddle and Cheryl L. GradyChapter 67 Single?photon Emission Computerized Tomography (SPECT) (pages 363–368): Mohammed T. Abou?Saleh and D. P. GeaneyChapter 68 Nosology and Classification of Mood Disorders (pages 371–373): Dan G. BlazerChapter 69 Genetics of Affective Disorders (pages 375–378): John L. Beyer and David C. SteffensChapter 70a Environmental Factors, Life Events and Coping Abilities (pages 379–380): Toni C. Antonucci and James S. JacksonChapter 70b The Aetiology of Late?life Depression (pages 381–386): Martin Prince and Aartjan BeekmanChapter 71 Epidemiology of Depression: Prevalence and Incidence (pages 389–392): Dan G. BlazerChapter 72 Neurochemistry (pages 397–401): L. S. Schneider and updated by M. T. Abou?SalehChapter 73 Neuro?imaging. Neuro?imaging Studies of Depression (pages 403–404): Mohammed T. Abou?SalehChapter 74 Clinical Features of Depression and Dysthymia (pages 407–412): David G. Folks and Charles V. FordChapter 75a Physical Illness and Depression (pages 417–422): Mavis E. EvansChapter 75b Depression after Stroke (pages 425–426): Peter Knapp and Allan HouseChapter 76 Acute Management of Late?life Depression (pages 429–431): Veronica Gardner and David C. SteffensChapter 77 Electroconvulsive Therapy (ECT) (pages 433–437): David G. WilkinsonChapter 78 Pharmacological Treatment of Depression (pages 439–442): Mohammed T. Abou?SalehChapter 79 Psychotherapy of Depression and Dysthymia (pages 445–451): Thomas R. Lynch and Christine M. VittChapter 80 Long?term Management of Affective Disorders (pages 453–459): Mohammed T. Abou?SalehChapter 81 Laboratory Diagnosis: Dexamethasone Suppression Test (pages 461–463): Mohammed T. Abou?SalehChapter 82 Bereavement (pages 465–467): Robert J. KastenbaumChapter 83 Suicidal Behaviour (pages 469–472): Howard CattellChapter 84 Genetics and Aetiology (pages 473–475): Thomas R. Thompson and William McDonaldChapter 85 Epidemiology and Risk Factors (pages 477–478): S. Lehmann and P. RabinsChapter 86 Mania: Clinical Features and Management (pages 479–480): S. Lehmann and P. RabinsChapter 87 Prognosis (pages 481–482): Mustafa M. HusainChapter 88 The Management of Acute Mania (pages 483–490): John L. Beyer and K. Ranga R. KrishnanChapter 89 Late?life Psychotic Disorders: Nosology and Classification (pages 493–496): Lisa T. Eyler Zorrilla and Dilip V. JesteChapter 90 Clinical Assessment and Differential Diagnosis (pages 497–501): D. N. AndersonChapter 91 Aetiology, Genetics and Risk Factors (pages 503–508): David J. Castle and Robin M. MurrayChapter 92 Schizophrenic Disorder and Mood?incongruent Paranoid States: Epidemiology, Prevalence, Incidence and Course (pages 511–512): Robert HowardChapter 93 The Fate of Schizophrenia with Advancing Age: Research Findings and Implications for Clinical Care (pages 513–515): Robert HowardChapter 94 Rehabilitation and Long?term Management (pages 517–520): Robert PughChapter 95 Treatment of Late?onset Psychotic Disorders (pages 521–525): Elsa M. Zayas and George T. GrossbergChapter 96 Risk Factors for Dyskinesia in the Elderly (pages 527–533): Thomas R. E. BarnesChapter 97 Nosology and Classification of Neurotic Disorders (pages 537–540): D. BienenfeldChapter 98 Epidemiology of Neurotic Disorders (pages 541–543): Dan G. BlazerChapter 99 Stress, Coping and Social Support (pages 545–549): Lawrence R. Landerman and Dana HughesChapter 100 Clinical Features of Anxiety Disorders (pages 551–554): Erin L. Cassidy, Pamela J. Swales and Javaid I. SheikhChapter 101 Prognosis of Anxiety Disorders (pages 555–557): Pamela J. Swales, Erin L. Cassidy and Javaid I. SheikhChapter 102 Acute Management of Anxiety and Phobias (pages 559–561): Javaid I. Sheikh, Erin L. Cassidy and Pamela J. SwalesChapter 103 Psychopharmacological Treatment of Anxiety (pages 563–569): John L. Beyer and K. Ranga KrishnanChapter 104 Obsessive–compulsive Disorder (pages 571–573): James LindesayChapter 105 Hypochondriacal Disorder (pages 575–577): Andree Allen and Ewald W. BusseChapter 106 Other Neurotic Disorders (pages 579–583): Jerome J. Schulte and David BienenfeldChapter 107 Personality Disorders: Aetiology and Genetics (pages 587–591): Victor Molinari, Tom Siebert and Marvin SwartzChapter 108 Theoretical and Management Issues (pages 593–598): Robert C. AbramsChapter 109 Alcohol Abuse in the Elderly (pages 601–605): Helen H. Kyomen and Benjamin LiptzinChapter 110 Epidemiology of Alcohol Problems and Drinking Patterns (pages 607–612): Celia F. Hybels and Dan G. BlazerChapter 111 Drug Misuse in the Elderly (pages 613–619): Paul Bown, A. H. Ghodse and M. T. Abou?SalehChapter 112 Old Age and Learning Disability (pages 623–625): Oyepeju Raji and Sheila HollinsChapter 113a Elderly Offenders (pages 627–629): Janet M. ParrottChapter 113b Sleep and Ageing: Disorders and Management (pages 631–632): Helen ChiuChapter 114 Sexual Disorders (page 635): J. M. KellettChapter 115 Phenomenology of Wandering (pages 637–638): A. Habib and G. T. GrossbergChapter 116a Problems of Assessing Psychiatric Symptoms and Illness in Different Cultures (pages 641–643): Melanie AbasChapter 116b Depression in the Indian Subcontinent (page 645): Vikram PatelChapter 116c Dementia in the Indian Subcontinent (page 647): S. Rajkumar, M. Ganguli and D. V. JesteChapter 117 Dementia and Depression in Africa (pages 649–650): Olusegun BaiyewuChapter 118 Mental Illness in South America (pages 651–652): Sergio Luis BlayChapter 119 Psychiatry of the Elderly—The WPA/WHO Consensus Statements (pages 655–656): Cornelius KatonaChapter 120 Development of Health and Social Services in the UK in the Twentieth Century (pages 657–660): John P. WattisChapter 121 The Pattern of Psychogeriatric Services (pages 661–663): John P. WattisChapter 122 The Multidisciplinary Team (pages 667–669): Henry RosenvingeChapter 123 Community Care: The Background (pages 671–673): Colin GodberChapter 124 The Development of Day Hospitals and Day Care (pages 677–679): Rosie Jenkins and D. J. JolleyChapter 125 Day Care (pages 681–683): John M. Eagles and Jill WarringtonChapter 126 New Technology and the Care of Cognitively Impaired Older People (pages 685–687): Andrew J. SixsmithChapter 127 The United States System of Care (pages 689–696): Christopher C. Colenda, Stephen J. Bartels and Gary L. GottliebChapter 128 Community?based Psychiatric Ambulatory Care: The Private Practice Model in the USA (pages 697–703): Elliott M. Stein and Gary S. MoakChapter 129a The Psychiatrist’s Role in Linking Community Services (pages 705–708): Deirdre Johnston, Kimberly A. Sherrill and Burton V. ReiflerChapter 129b The Medical Psychiatry Inpatient Unit (pages 709–712): David G. Folks and F. Cleveland KinneyChapter 130 The Psychiatrist in the Nursing Home (pages 713–714): William E. ReichmanChapter 131 Psychiatric Services in Long?term Care (pages 717–722): Ira R. Katz, Kimberly S. Van Haitsma and Joel E. StreimChapter 132 Care in Private Psychiatric Hospitals (pages 723–726): K. G. Meador, M. M. Harkleroad and W. M. PetrieChapter 133 Quality of Care and Quality of Life in Institutions for the Aged (pages 727–729): M. Powell LawtonChapter 134 Liaison with Medical and Surgical Teams (pages 731–735): Sheila A. MannChapter 135 Education and the Liaison Psychogeriatrician (pages 737–738): D. N. AndersonChapter 136 Rehabilitation (pages 739–742): Rob JonesChapter 137 Anaesthetics and Mental State (pages 743–748): David Gwyn SeymourChapter 138a Nutritional State (pages 749–752): D. N. Anderson and M. T. Abou?SalehChapter 138b Caregivers and Their Support (pages 755–762): Kathleen C. Buckwalter, Linda Garand and Meridean MaasChapter 138c Elder Abuse—Epidemiology, Recognition and Management (pages 771–773): Martin J. VernonChapter 138d The Care of the Dying Patient (pages 775–778): Robert E. Nelson and Keith G. MeadorChapter 139a Prevention in Mental Disorders of Late Life (pages 779–782): Barry D. Lebowitz and Jane L. PearsonChapter 139b A Damning Analysis of the Law and the Elderly Incompetent Patient—Rights, What Rights? (pages 783–787): Peter EdwardsChapter 139c Older People, Clinicians and Mental Health Regulation (pages 789–790): Elaine MurphyChapter 140 Training Requirements for Old Age Psychiatrists in the UK (pages 791–793): Susan M. BenbowChapter 141 Developing and Maintaining Links between Service Disciplines: The Program for Organizing Interdisciplinary Self?education (POISE) (pages 795–798): J. A. TonerChapter 142 Appendix—International Psychogeriatric Association (IPA) (pages 799–800): Barry Reisberg and Fern F. Finkel
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Genetic Effects on Environmental Vulnerability to Disease: Novartis Foundation Symposium 293

 Genetics  Comments Off on Genetic Effects on Environmental Vulnerability to Disease: Novartis Foundation Symposium 293
Feb 052019
 

Much research has attempted to show direct linear relations between genes and disorder. However, scientists have been discouraged by inconsistent findings based on this simple gene-phenotype approach. The alternative approach is to incorporate information about the environment. A gene-environment interaction approach assumes that environmental pathogens cause disorder, whereas genes influence susceptibility to environmental pathogens. This book brings together contributions from experts from multiple disciplines who discuss: How epidemiological cohort studies can better integrate physiological (mechanistic) measures; How best to characterise subjects’ vulnerability versus resilience by moving beyond single genetic polymorphisms; How gene hunters can benefit from recruiting samples selected for known exposures; How environmental pathogens can be used as tools for gene hunting; How to deal with potential spurious (statistical) interactions, and How genes can help explain fundamental demographic properties of disorders (e.g. sex distribution, age effects). Content: Chapter 1 Introduction: Whither Gene–Environment Interactions? (pages 1–12): Michael RutterChapter 2 Gene–Environment Interaction: Overcoming Methodological Challenges (pages 13–30): Rudolf UherChapter 3 Gene–Environment Interaction and Behavioral Disorders: A Developmental Perspective Based on Endophenotypes (pages 31–47): Marco Battaglia, Cecilia Marino, Michel Maziade, Massimo Molteni and Francesca D’AmatoChapter 4 Use of Monozygotic Twins to Investigate the Relationship between 5HTTLPR Genotype, Depression and Stressful Life Events: An Application of Item Response Theory (pages 48–67): Naomi R. Wray, William L. Coventry, Michael R. James, Grant W. Montgomery, Lindon J. Eaves and Nicholas G. MartinChapter 5 Role of Gene–Stress Interactions in Gene?Finding Studies (pages 71–86): Harold Snieder, Xiaoling Wang, Vasiliki Lagou, Brenda W. J. H. Penninx, Harriette Riese and Catharina A. HartmanChapter 6 Practice and Public Policy in the Era of Gene–Environment Interactions (pages 87–102): Kenneth A. DodgeChapter 7 Gene–Environment Interaction and the Metabolic Syndrome (pages 103–121): Kristi B. Adamo and Frederique TessonChapter 8 Longitudinal Studies of Gene–Environment Interaction in Common Diseases—Good Value for Money? (pages 128–142): Stephen P. Robertson and Richie PoultonChapter 9 Gene–Environment Interactions in Breast Cancer (pages 143–155): Kee?Seng ChiaChapter 10 Unbiased Forward Genetics and Systems Biology Approaches to Understanding how Gene–Environment Interactions Work to Predict Susceptibility and Outcomes of Infections (pages 156–167): Malak Kotb, Nourtan Fathey, Ramy Aziz, Sarah Rowe, Robert W. Williams and Lu LuChapter 11 Gene–Environment Interactions in Environmental Lung Diseases (pages 168–180): Steven R. Kleeberger and Hye?Youn ChoChapter 12 Gene–Environment Interaction in Complex Diseases: Asthma as an Illustrative Case (pages 184–197): Fernando D. MartinezChapter 13 Conclusions: Taking Stock and Looking Ahead (pages 198–205): Michael Rutter
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Genetics of Autoimmunity: Novartis Foundation Symposium 267

 Genetics  Comments Off on Genetics of Autoimmunity: Novartis Foundation Symposium 267
Feb 052019
 

This title provides an extremely helpful analysis of genes that may be associated with autoimmunity, and answers questions such as how these genes can be identified, and how the functions of the gene products can be elucidated. Incorporating data on disease-associated chromosomal loci that has been accumulated from inbred mice, the title: * descibes how some susceptibility loci may be common to many diseases, whereas others are relatively disease specific * discusses the importance of developing criteria for establishing the significance of these different categories of disease-associated loci.Content: Chapter 1 Chair’s Introduction (page 1): Abul AbbasChapter 2 Patterns of Genetic Variation in Humans and Mice (pages 2–13): Mark DalyChapter 3 Haplotype Tagging in Pharmacogenetics (pages 14–30): David B. GoldsteinChapter 4 Multiple Sclerosis: A Haplotype Association Study (pages 31–45): Simon J. Foote, Justin P. Rubio, Melanie Bahlo, Trevor J. Kilpatrick, Terence P. Speed, Jim Stankovich, Rachel Burfoot, Helmut Butzkueven, Laura Johnson, Chris Wilkinson, Bruce Taylor, Michele Sale, Ingrid A. F. van der Mei, Joanne L. Dickinson and Patricia GroomChapter 5 Mapping Genes for Asthma and Psoriasis (pages 46–56): Juha KereChapter 6 Natural Genetic Variants Influencing Type 1 Diabetes in Humans and in the NOD Mouse (pages 57–75): Linda S. Wicker, Carolyn L. Moule, Heather Fraser, Carlos Penha?Goncalves, Dan Rainbow, Valerie E. S. Garner, Giselle Chamberlain, Kara Hunter, Sarah Howlett, Jan Clark, Andrea Gonzalez?Munoz, Anne Marie Cumiskey, Paul Tiffen, Joanna Howson, Barry Healy, Luc J. Smink, Amanda Kingsnorth, Paul A. Lyons, Simon Gregory, Jane Rogers, John A. Todd and Laurence B. PetersonChapter 7 The Importance of Epistatic Interactions in the Development of Autoimmunity (pages 76–93): Srividya Subramanian and Edward K. WakelandChapter 8 Mapping Autoimmune Disease Genes in Humans: Lessons from IBD and SLE (pages 94–112): Timothy J. Vyse, Angela M. Richardson, Emily Walsh, Lisa Farwell, Mark J. Daly, Cox Terhorst and John D. RiouxChapter 9 A Combined Genetics and Genomics Approach to Unravelling Molecular Pathways in Coeliac Disease (pages 113–144): Martin C. Wapenaar and Cisca WijmengaChapter 10 Progress towards Understanding the Genetic Pathogenesis of Systemic Lupus Erythematosus (pages 145–164): Timothy W. Behrens, Robert R. Graham, Chieko Kyogoku, Emily C. Baechler, Paula S. Ramos, Clarence Gillett, Jason Bauer, Ward A. Ortmann, Keli L. Hippen, Erik Peterson, Carl D. Langefeld, Kathy L. Moser, Patrick M. Gaffney and Peter K. GregersenChapter 11 A Molecular Dissection of Lymphocyte Unresponsiveness Induced by Sustained Calcium Signalling (pages 165–179): Vigo Heissmeyer, Fernando Macia, Rajat Varma, Sin?Hyeog Im, Francisco Garcia?Cozar, Heidi F. Horton, Michael C. Byrne, Stefan Feske, K. Venuprasad, Hua Gu, Yun?Cai Liu, Michael L. Dustin and Anjana RaoChapter 12 Genetic Lesions in Thymic T Cell Clonal Deletion and Thresholds for Autoimmunity (pages 180–199): Adrian Liston and Christopher C. GoodnowChapter 13 An Autoimmune Disease?Associated CTLA4 Splice Variant Lacking the B7 Binding Domain Signals Negatively in T Cells (pages 200–218): Lalitha Vijayakrishnan, Jacqueline M. Slavik, Zsolt Illes, Dan Rainbow, Laurence B. Peterson, Arlene S. Sharpe, Linda S. Wicker and Vijay K. KuchrooChapter 14 Large?Scale Screens for cDNAs with in vivo Activity (pages 219–230): Adrian Ting, Stefan Lichtenthaler, Ramnik Xavier, Soon?Young Na, Shahrooz Rabizadeh, Tara Holmes and Brian SeedChapter 15 Genomic Mining of New Genes and Pathways in Innate and Adaptive Immunity (pages 231–241): Jenny Ting
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Genetics and Tuberculosis: Novartis Foundation Symposium 217

 Genetics  Comments Off on Genetics and Tuberculosis: Novartis Foundation Symposium 217
Feb 052019
 

Genetics and Tuberculosis Chairman: Douglas Young 1998 More people die each year from tuberculosis than from any other infectious disease, the annual death toll being almost three million (over 95% of which are in developing countries) with eight million new cases being diagnosed every year. It is estimated that one-third of the world’s population – nearly two billion people – is now infected, of which 5-10% will develop the disease. In 1993, the World Health Organization recognized tuberculosis as a ‘global health emergency’, the first time that a disease had ever been marked in this way. The emergence of drug-resistant forms of the disease combined with the paucity of new drugs makes the challenge of understanding and combating the disease especially urgent. This book explores the interplay between the Mycobacterium and its host by focusing on the research currently underway on the sequencing of the genome of Mycobacterium tuberculosis, and on the genetic and epidemiological studies of communities exposed to the disease (and on related animal models). From a synthesis of these data, new insights into the understanding of the pathogenesis, prevention and treatment of tuberculosis emerge. Content:
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The Foundations of Iridology: The Eyes as the Key to Your Genetic Health Profile

 Genetics, Ophthalmology  Comments Off on The Foundations of Iridology: The Eyes as the Key to Your Genetic Health Profile
Feb 022019
 

A complete guide to decoding the iris to reveal health predispositions for prevention and early treatment

• Details the fundamental reflex signs of iridology and how to identify constitutional strengths and weaknesses in the stroma, pigments, and capillaries of the eyes as well as read energy patterns in pupil tone
• Explores the history and development of iridology from the 18th century to today
• Includes analysis of real case studies with full-color photos and illustrations

The iris of your eye is a personal and unique identifier that expresses much more about us than we can imagine. Through detailed observation of the irises’ stroma, pigments, and capillaries, you can determine a person’s constitutional strengths and weaknesses and gain insight into their genetic predisposition to certain illnesses as well as preventive and treatment options that would be most effective. By reading the iris, practitioners of natural medicine can interpret the signs that reveal a client’s lifestyle choices and use this knowledge to make enlightened decisions regarding the client’s health plan and how to help them realize their full potential.

In this full-color guide, Gustau Pau, an iridologist with more than 35 years of experience, details the chromatic scale and signs expressed in the eyes and how to use them to identify organs and their function as well as susceptibility to specific ailments. He explores the history and development of iridology from Hildegard von Bingen’s work on healing to 18th-century European scientists, including Ignaz von Peczely, the father of modern iridology. He reveals recent iridology developments on identifying genetically inherited physical traits, explaining how individuals can use this insight to make nutritional and lifestyle choices that will offset inherited weaknesses and bolster strengths. Focusing on the digestive system, he shows how the pupillary zone can reveal digestive function and demonstrates how diet is responsible for causing many diseases. The author also explores miasmas in the eyes, includes methods for reading energy patterns in pupil tone, and offers the scientific explanation for the old contention that the “eyes are the windows of the soul.”

Illustrating the fundamental signs that iridologists use for reference, Pau provides sample iridographies and real case studies with photos and diagrams. Explaining how scientific research on the eye has not yet caught up with the innovations of iridology, he shows how the eyes reveal both our internal state and future health and have a much broader role in the body that we are only now just discovering.

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Mutating Concepts, Evolving Disciplines: Genetics, Medicine, and Society

 Genetics  Comments Off on Mutating Concepts, Evolving Disciplines: Genetics, Medicine, and Society
Jan 222019
 

Advances in genetics, such as the Human Genome Project’s successful mapping of the human genome and the discovery of ever more sites of disease-related mutations, invite re-examination of basic concepts underlying our fundamental social practices and institutions. Having children, assigning responsibility, identifying causes, using social and scientific resources to improve human well-being, among other concepts, will never be the same. Our concepts of moral and legal responsibility, cause and effect, disease prevention, health, disability, enhancement, personal identity, and reproductive autonomy and responsibility are all subtly changing in response to developments in genetics. Biology, law, medicine, and other disciplines are also evolving in response to mutating concepts in genetics itself-for example, dominance, causation, behavior, gene expression, and gene. The selections in this volume employ philosophical and historical perspectives to shed light on classic social, ethical, and philosophical issues raised with renewed urgency against the backdrop of the mapping of the human genome.
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The Practices of Human Genetics

 Genetics  Comments Off on The Practices of Human Genetics
Jan 152019
 

That concern about human genetics is at the top of many lists of issues requiring intense discussion from scientific, political, social, and ethical points of view is today no surprise. It was in the spirit of attempting to establish the basis for intelligent discussion of the issues involved that a group of us gathered at a meeting of the International Society for the History, Philosophy, and Social Studies of Biology in the Summer of 1995 at Brandeis University and began an exploration of these questions in earlier versions of the papers presented here. Our aim was to cross disciplines and jump national boundaries, to be catholic in the methods and approaches taken, and to bring before readers interested in the emerging issues of human genetics well-reasoned, informative, and provocative papers. The initial conference and elements of the editorial work which have followed were generously supported by the Stifterverband fUr die Deutsche Wissenschaft. We thank Professor Peter Weingart of Bielefeld University for his assistance in gaining this support. As Editors, we thank the anonymous readers who commented upon and critiqued many of the papers and in tum made each paper a more valuable contribution. We also thank the authors for their understanding and patience. Michael Fortnn Everett Mendelsohn Cambridge, MA September 1998 vii INTRODUCTION In 1986, the annual symposium at the venerable Cold Spring Harbor laboratories was devoted to the “Molecular Biology of Homo sapiens.
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