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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Psychiatry and clinical psychology have long been divided about the
roles of nature and nurture in the pathways to psychopathology.
Some clinicians offer treatment almost entirely based on
neuroscience. Some psychologists offer psychotherapies almost
entirely based on the impact of environmental stressors. Paris
argues for a balanced middle ground between nature and nurture in
human development. This book reviews and integrates research
showing that the key to understanding the development of mental
disorders lies in interactions between genes and environment. It
explores why personality is a key determinant of how people respond
to stress, functioning as a kind of psychological immune system.
This model represents a shift from overly simple and reductionistic
constructs, based primarily on biological risks or on psychosocial
risks in development. Instead, it offers a complex and multivariate
approach that encourages a broader approach to treatment. This book
is essential for all mental health clinicians who are interested in
understanding the roles of nature and nurture in the development of
psychopathology.
Advances in genetics over the past 50 years have been dramatically
changed the understanding and management of inherited disorders,
and are beginning to have a major impact on the practice of
medicine overall. The rapidity of these advances means that
clinicians and scientists in the field are often unfamiliar with
the key research that has led to many developments that now are
accepted and familiar. Few have time to search or the original
papers, which are scattered and often difficult to obtain. This
collection has been edited mainly for medical geneticists and
genetics researchers who wish to learn more about how their field
originated and developed. Brief, clearly written commentaries on
each paper and section place the work in its current context and
serve to unify the different parts of the book. They also help make
it a readable and authoritative source of information.
The papers chosen fall into several groups. First are classic
descriptions of important genetic disorders, often from the
pre-mendelian era. The following sections deal with the definition
of human mendelian inheritance, the origins of human cytogenetics,
the early development of the human gene map and the transition from
biochemical genetics to human molecular genetics, the relatively
recent studies that have shown how mendelian principles are
increasingly modifiable, and finally advances in the treatment and
management of genetic disorders, which are placed in their social
context.
* Overview of some of the key concepts in epigenetics, chromatin
and the interaction with transcription factors * Shows the specific
influence of environmental factors to influence or trigger the
autoimmune response * Discusses the possibilities of using
epigenetics-based therapies in the context of autoimmune diseases *
Presents the application of novel methods to characterize the
epigenetic profile This volume focuses on the relevance of
epigenetic mechanisms in autoimmune disease. It provides new
directions for future research in autoimmune disease.
The new genetic revolution is fuelled by Deep Sequencing (or Next
Generation Sequencing) apparatuses which, in essence, read billions
of nucleotides per reaction. Effectively, when carefully planned,
any experimental question which can be translated into reading
nucleic acids can be applied.In Deep Sequencing Data Analysis,
expert researchers in the field detail methods which are now
commonly used to study the multi-facet deep sequencing data field.
These included techniques for compressing of data generated,
Chromatin Immunoprecipitation (ChIP-seq), and various approaches
for the identification of sequence variants. Written in the highly
successful Methods in Molecular Biology series format, chapters
include introductions to their respective topics, lists of
necessary materials and reagents, step-by-step, readily
reproducible protocols, and key tips on troubleshooting and
avoiding known pitfalls. Authoritative and practical, Deep
Sequencing Data Analysis seeks to aid scientists in the further
understanding of key data analysis procedures for deep sequencing
data interpretation.
This detailed volume collects chapters that seek to expand our
knowledge of molecular events and extended molecular networks in
gene regulation. The contents explore numerous aspects of miRNA
biogenesis, a sophisticated series of events that assure a finely
tuned regulation of miRNA expression and activity. Written for the
highly successful Methods in Molecular Biology series, chapters
include introductions to their respective topics, lists of the
necessary materials and reagents, step-by-step readily reproducible
laboratory protocols, and tips on troubleshooting and avoiding
known pitfalls. Authoritative and practical, miRNA Biogenesis:
Methods and Protocols aims to contribute to the further development
of knowledge and application of miRNA biogenesis, both in the basic
research lab and in the clinic.
This book presents the state of the art in glycoscience and
proposes a road map for the coming decade, focusing on the
potential of glycoscience research to shed light on important basic
science issues and give rise to exciting new applications,
especially in the field of diagnosis and therapeutics. Individual
sections offer in-depth coverage of various topics relating to
glycans and biopharmaceuticals, glycans in medical science and
medicine, glycan technologies, glycans in food and nutrients, and
glycan-related materials and their uses. In addition, the book
presents an exemplary training course on glycomics and highlights
educational and analytical web resources, and also includes
glossaries and boxes summarizing key facts to ensure ease of
understanding for non-expert readers and students. Written by more
than 150 active participants in the Japan Consortium for
Glycobiology and Glycotechnology (JCGG), whose goal is to promote
the development of interdisciplinary glycoscience and establish a
global network in the field, it is a valuable resource for
students, postdocs, and researchers in the life sciences as well as
for stakeholders and professionals in government, funding agencies
and industry.
Scientists conducting human genome research are identifying
genetic disorders and traits at an accelerating rate. Genetic
factors in human behavior appear particularly complex and slow to
emerge, yet are raising their own set of difficult ethical, legal,
and social issues. In "Behavioral Genetics: The Clash of Culture
and Biology," Ronald Carson and Mark Rothstein bring together
well-known experts from the fields of genetics, ethics,
neuroscience, psychiatry, sociology, and law to address the
cultural, legal, and biological underpinnings of behavioral
genetics. The authors discuss a broad range of topics, including
the ethical questions arising from gene therapy and screening,
molecular research in psychiatry, and the legal ramifications and
social consequences of behavioral genetic information. Throughout,
they focus on two basic concerns: the quality of the science behind
behavioral genetic claims and the need to formulate an appropriate,
ethically defensible response when the science turns out to be
good.
Rosenberg's Molecular and Genetic Basis of Neurologic and
Psychiatric Disease, Sixth Edition: Volume Two provides a
comprehensive introduction and reference to the foundations and
practical aspects relevant to the majority of neurologic and
psychiatric disease. This updated volume focuses on degenerative
disorders, movement disorders, neuro-oncology, neurocutaneous
disorders, epilepsy, white matter diseases, neuropathies and
neuronopathies, muscle and neuromuscular junction disorders,
stroke, psychiatric disease, and a neurologic gene map. A favorite
of over three generations of students, clinicians and scholars,
this new edition retains and expands on the informative, concise
and critical tone of the first edition. This is an essential
reference for general medical practitioners, neurologists,
psychiatrists, geneticists, related professionals, and for the
neuroscience and neurology research community at large. The content
covers all aspects essential to the practice of neurogenetics to
inform clinical diagnosis, treatment and genetic counseling.
This book will contain the proceedings of the XIV International
Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010,
in Mont-Tremblant, Quebec, Canada. The volume will present
representative state-of-the-art research in almost all areas of
retinal degenerations, ranging from cytopathologic, physiologic,
diagnostic and clinical aspects; animal models; mechanisms of cell
death; candidate genes, cloning, mapping and other aspects of
molecular genetics; and developing potential therapeutic measures
such as gene therapy and neuroprotective agents for potential
pharmaceutical therapy.
In this informative new book, Dr Emily Kane sets out to banish the
current myths about menopause, making the important point that
menopause is not a disease condition that requires medical
intervention. It is instead, she says, a natural transition to be
approached as a new type of freedom. Dr Kane believes that
menopause is a gift that allows many of us to live more years. This
book is her roadmap for women, to help them navigate their way
into, through, and out the other side of menopause - all the while
in radiant health.
This book will provide an overview of basic epigenetic phenomena;
interaction between epigenetic and genetic factors; and the
influence of epigenetic factors on inheritance. Epigenetic states
may contribute to the penetrance of genetic polymorphisms or
mutations and thereby modify inheritance patterns. This may result
in non Mendelian inheritance of genetic traits such as observed in
common human disease. The relationship between epigenetics and
genetics, however, has not been comprehensively summarized yet. The
topic is being more and more appreciated lately due to considerable
advances in genomic and epigenomic approaches to study the origins
of human disease. The editors will focus not only on describing
epigenetic characteristics, mechanisms and results, but also on how
considerations of epigenetics can alter interpretation and analysis
of risks for complex traits. This book will be a resource for those
who have been working in human genetics or analysis of human
genetic data and are studying the impact of epigenetics on
inheritance. An overview will be given of the impacts of inter
individual variation in epigenetic states from major changes
(errors in genomic imprinting) that cause congenital developmental
defects to subtle changes and their impact on complex traits. The
editors will discuss the relationship between epigenetic changes
and genetic changes in human disease. Several chapters will also
focus on statistical analysis of epigenetics effects, either in
human disease genetic studies, or in population genetics. "
This volume offers readers an opportunity to learn about how
genomes are sequenced, what discoveries have so far come out of
this scientific revolution, and about the ethical dimensions of
this advancing technology. The revised edition focuses on the new
advances in genome technology and builds upon the strong basic
biological format that was established in the original publication.
It also takes advantage of the recent major advances in genome
level sequencing and analysis to demonstrate the vast increase in
biological knowledge over the past decade.
JIMD Reports publishes case and short research reports in the area
of inherited metabolic disorders. Case reports highlight some
unusual or previously unrecorded feature relevant to the disorder,
or serve as an important reminder of clinical or biochemical
features of a Mendelian disorder.
We live in an era of personalized medicine and the knowledge about
pathophysiology of diffuse gastric cancer has had many advances.
Thus, the role of this work is to clarify what is new from
diagnosis to treatment of this disease in order to treat patients
in the most tailored manner as possible. Almost all phase III
trials in gastric cancer have been performed without taking in
consideration histologic subtypes, i.e. they have disregarded the
differences between diffuse gastric cancer and general gastric
cancer. However, the clinical practice reveals that diffuse gastric
cancer is a completely distinct disease, with an aggressive course
and generally worse prognosis. The loss of cohesion between tumor
cells due to the loss of E-cadherin synthesis is the critical point
on the oncogenesis of diffuse gastric cancer and is at the root of
its marked heredity. This book intends to give special attention to
Diffuse Gastric Cancer as a particular oncological entity,
differentiating it from general gastric cancer, exploring and
discussing all its peculiarities, and addressing the basic aspects
(pathology and genetics) along with the most recent therapeutic
alternatives for this condition.
JIMD Reports publishes case and short research reports in the area
of inherited metabolic disorders. Case reports highlight some
unusual or previously unrecorded feature relevant to the disorder,
or serve as an important reminder of clinical or biochemical
features of a Mendelian disorder.
This volume is divided in four sections; covering genome wide
approaches, techniques for characterize of paRNA structural
features are described, selecting pa-RNA, and paRNA therapeutic
potential. Chapters describe how siRNAsdirected against paRNAs can
be applied in vivo to modulate transcription of important genes
controlled by paRNAs. Written in the highly successful Methods in
Molecular Biology series format, chapters include introductions to
their respective topics, lists of the necessary materials and
reagents, step-by-step, readily reproducible laboratory protocols,
and tips on troubleshooting and avoiding known pitfalls.
Authoritative and cutting-edge, Promoter Associated RNA: Methods
and Protocols aims to demonstrate paRNAs as new class of regulatory
molecules, to further investigate and value as tools for fine
transcriptional tuning.
Up to date and extensively revised to reflect recent advances in
the genetics of common diseases, as well as current progress in
gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read,
highly visual coverage of this rapidly changing field. This
accessible, practical text integrates key concepts with clinical
practice, highlighted by numerous illustrations, tables, concept
summaries, and more - all designed to enhance effective learning
and retention of complex material. Discusses current topics
including polygenic risk scores and their potential applications
for diabetes, cancer, and heart disease, and the latest sequencing
technologies and their clinical application in genetic testing and
diagnosis. Offers a completely updated discussion of genetic
testing modalities and applications. Includes convenient concept
summaries, more than 230 photographs, illustrations, and tables, as
well as patient/family vignettes that present valuable perspectives
on disease and treatment. Features Clinical Commentary boxes that
demonstrate how the hard science of genetics has real applications
to everyday patient problems, preparing you for problem-based
integrated courses. Illustrates key concepts with disease examples
to demonstrate relevance to medicine. Provides study questions for
self-assessment, as well as 200 additional USMLE-style questions
online. Enhanced eBook version included with purchase. Your
enhanced eBook allows you to access all of the text, figures, and
references from the book on a variety of devices.
JIMD Reports publishes case and short research reports in the area
of inherited metabolic disorders. Case reports highlight some
unusual or previously unrecorded feature relevant to the disorder,
or serve as an important reminder of clinical or biochemical
features of a Mendelian disorder.
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