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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Originally thought to be available only to the world's wealthiest
nations, genomic medicine has developed into a broad range of
clinical methods and technologies whose concrete applications are
also revolutionizing health systems in many of the world's
resource-limited nations. Genomic Medicine in Emerging Economies:
Genomics for Every Nation provides in-depth analysis and key
examples of the implementation of medical genomics in low-income
nations across the globe, demonstrating how this advancing medical
science has already transformed health systems and led to improved
patient care in Indonesian, Chilean, Malaysian, Argentinian,
Chinese, Sri Lankan, and Colombian populations among others. In
addition to defining tools, diagnostics, and treatment pathways at
the population-wide level for medical geneticists, genomic
researchers, and public health workers to apply in their own work,
this book offers an essential, case-study based approach needed to
understand how genomic medicine can be used to improve
disease-management in a diverse range of economic and social
contexts.
The Epigenetics of Autoimmunity covers a topic directly related to
translational epigenetics. Via epigenetic mechanisms, a number of
internal and external environmental risk factors, including
smoking, nutrition, viral infection and the exposure to chemicals,
could exert their influence on the pathogenesis of autoimmune
diseases. Such factors could impact the epigenetic mechanisms,
which, in turn, build relationship with the regulation of gene
expression, and eventually triggering immunologic events that
result in instability of immune system. Since epigenetic
aberrations are known to play a key role in a long list of human
diseases, the translational significance of autoimmunity
epigenetics is very high. To bridge the gap between environmental
and genetic factors, over the past few years, great progress has
been made in identifying detailed epigenetic mechanisms for
autoimmune diseases. Furthermore, with rapid advances in
technological development, high-throughput screening approaches and
other novel technologies support the systematic investigations and
facilitate the epigenetic identification. This book covers
autoimmunity epigenetics from a disease-oriented perspective and
several chapters are presented that provide advances in wide-spread
disorders or diseases such as systemic lupus erythematosus (SLE),
rheumatoid arthritis (RA), multiple sclerosis (MS), type 1 diabetes
(T1DM), systemic sclerosis (SSc), primary Sjoegren's syndrome (pSS)
and autoimmune thyroid diseases (AITDs). These emerging epigenetic
studies provide new insights into autoimmune diseases, raising
great expectations among researchers and clinicians. This seminal
book on this topic comprehensively covers the most recent advances
in this exciting and rapidly developing new science. They might
reveal not only new clinical biomarkers for diagnosis and disease
progression, but also novel targets for potential epigenetic
therapeutic treatment.
Epigenetics and Systems Biology highlights the need for
collaboration between experiments and theoretical modeling that is
required for successful application of systems biology in
epigenetics studies. This book breaks down the obstacles which
exist between systems biology and epigenetics researchers due to
information barriers and segmented research, giving real-life
examples of successful combinations of systems biology and
epigenetics experiments. Each section covers one type of modeling
and one set of epigenetic questions on which said models have been
successfully applied. In addition, the book highlights how modeling
and systems biology relate to studies of RNA, DNA, and genome
instability, mechanisms of DNA damage signaling and repair, and the
effect of the environment on genome stability.
Gene Therapy for Viral Infections provides a comprehensive review
of the broader field of nucleic acid and its use in treating viral
infections. The text bridges the gap between basic science and
important clinical applications of the technology, providing a
systematic, integrated review of the advances in nucleic acid-based
antiviral drugs and the potential advantages of new technologies
over current treatment options. Coverage begins with the
fundamentals, exploring varying topics, including harnessing RNAi
to silence viral gene expression, antiviral gene editing, viral
gene therapy vectors, and non-viral vectors. Subsequent sections
include detailed coverage of the developing use of gene therapy for
the treatment of specific infections, the principles of rational
design of antivirals, and the hurdles that currently face the
further advancement of gene therapy technology.
Genomics in the Clinic: A Practical Guide to Genetic Testing,
Evaluation, and Counseling illustrates the current scope of the
practice of genetics for healthcare professionals, so they can
understand principles applicable to genetic testing and
consultation. Written by an authoritative well-balanced team,
including experienced clinical geneticists, genetic counselors, and
medical subspecialists, this book adopts an accessible,
easy-to-follow format. Sections are dedicated to basic genetic
principles; clinical genetic and genomic testing; prenatal,
clinical and cancer genetic diagnosis and counseling; and ethical
and social implications in genomic medicine. Over 100 illustrative
cases examine a range of prenatal, pediatric and adult genetic
conditions and testing, putting these concepts and approaches into
practice. Genomics in the Clinic: A Practical Guide to Genetic
Testing, Evaluation, and Counseling is important for primary care
providers, as patient care evolves in the current
genomic-influenced world of precision medicine.
"Benign & Pathological Chromosomal Imbalances"
systematically clarifies the disease implications of
cytogenetically visible copy number variants (CG-CNV) using
cytogenetic assessment of heterochromatic or euchromatic DNA
variants. While variants of several megabasepair can be present in
the human genome without clinical consequence, visually
distinguishing these benign areas from disease implications does
not always occur to practitioners accustomed to costly molecular
profiling methods such as FISH, aCGH, and NGS.
As technology-driven approaches like FISH and aCGH have yet to
achieve the promise of universal coverage or cost efficacy to
sample investigated, deep chromosome analysis and molecular
cytogenetics remains relevant for technology translation, study
design, and therapeutic assessment.
Knowledge of the rare but recurrent rearrangements unfamiliar to
practitioners saves time and money for molecular cytogeneticists
and genetics counselors, helping to distinguish benign from harmful
CG-CNV. It also supports them in deciding which molecular
cytogenetics tools to deploy.
Shows how to define the inheritance and formation of
cytogenetically visible copy number variations using cytogenetic
and molecular approaches for genetic diagnostics, patient
counseling, and treatment plan developmentUniquely classifies all
known variants by chromosomal origin, saving time and money for
researchers in reviewing benign and pathologic variants before
costly molecular methods are used to investigateSide-by-side
comparison of copy number variants with their recently identified
submicroscopic form, aiding technology assessment using aCGH and
other techniques
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