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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
The best-selling author of Leonardo da Vinci and Steve Jobs
returns. In 2012, Nobel Prize winning scientist Jennifer Doudna hit
upon an invention that will transform the future of the human race:
an easy-to-use tool that can edit DNA. Known as CRISPR, it opened a
brave new world of medical miracles and moral questions. It has
already been deployed to cure deadly diseases, fight the
coronavirus pandemic of 2020, and make inheritable changes in the
genes of babies. But what does that mean for humanity? Should we be
hacking our own DNA to make us less susceptible to disease? Should
we democratise the technology that would allow parents to enhance
their kids? After discovering this CRISPR, Doudna is now wrestling
these even bigger issues. THE CODE BREAKERS is an examination of
how life as we know it is about to change - and a brilliant
portrayal of the woman leading the way.
This volume of Methods in Enzymology looks at Gene Transfer
Vectors for Clinical Application. The chapters providean invaluable
resource for academics, researchers and students alike. With an
international board of authors, this volume covers such topics as
General principles of retrovirus vector design, Chronic
granulomatous disease (CGD), Gene therapy for blindness, and
Retrovirus genetic strategy and vector design.
Chapters provide an invaluable resource for academics, researchers
and students alikeInternational board of authorsThis volume covers
such topics as general principles of retrovirus vector design,
chronic granulomatous disease (CGD), gene therapy for blindness,
and retrovirus genetic strategy and vector design"
Progress in molecular and cellular biology has greatly enhanced our
ability to accurately diagnose diseases that are caused by gene
mutations, changes in genome structures, and altered gene
expression; increased emphasis is now placed on translational
research the clinical treatment of these genetically determined
diseases. Seeking Cures outlines the progress and implications of
science's quest to identify therapeutic targets and initiate novel
treatments at the gene, RNA, protein, and physiological levels.
Also considered are aspects of treatment at the cellular level
(e.g., those with hematopoietic stem cells or induced pluripotent
stem cells). Topics covered in this text include: * outline of the
processes typical for identifying disease-modifying therapies *
examples of newer therapeutic approaches in use or under
investigation to treat lysosomal storage diseases, inborn errors of
metabolism, mitochondrial functional defects, and specific
monogenic diseases * therapeutic designs for specific complex
common diseases, including Alzheimer's disease, cancer, and autism
Through these specific examples, Seeking Cures provides a glimpse
at the pursuit-and future-of personalized medicine.
How scientific advances in genetic modification will fundamentally
change the natural world The process of manipulating the genetic
material of one animal to include the DNA of another creates a new
transgenic organism. Several animals, notably goats, mice, sheep,
and cattle are now genetically modified in this way. In Our
Transgenic Future, Lisa Jean Moore wonders what such scientific
advances portend. Will the natural world become so modified that it
ceases to exist? After turning species into hybrids, can we ever
get back to the original, or are they forever lost? Does genetic
manipulation make better lives possible, and if so, for whom? Moore
centers the story on goats that have been engineered by the US
military and civilian scientists using the DNA of spiders. The
goat's milk contains a spider-silk protein fiber; it can be spun
into ultra-strong fabric that can be used to manufacture
lightweight military body armor. Researchers also hope the
transgenically produced spider silk will revolutionize medicine
with biocompatible medical inserts such as prosthetics and
bandages. Based on in-depth research with spiders in Florida and
transgenic goats in Utah, Our Transgenic Future focuses on how
these spidergoats came into existence, the researchers who maintain
them, the funders who have made their lives possible, and how they
fit into the larger science of transgenics and synthetics. This
book is a fascinating story about the possibilities of science and
the likely futures that may come.
Epigenetics is the study of changes in gene expression caused by
mechanisms other than changes in the DNA sequence. Epigenetics is a
rapidly advancing field with an increasing impact on biological and
medical research. The editors of this book have assembled
top-quality scientists from diverse fields of epigenetics to
produce a major new volume. Comprehensive and cutting-edge, the 26
chapters in this book constitute a key reference manual for
everyone involved in epigenetics, DNA methylation, cancer
epigenetics, and related fields. Topics include: early life
environment * DNA methylation and behavior * histone
acetyltransferase biology * transgenerational epigenetic
inheritance * mammalian X inactivation * epigenetic memory in
plants * polycomb-group regulation * centromeres and telomeres *
DNA sequence contribution to nucleosome distribution *
macrosatellite epigenetics * histones * cell-fate specification and
reprogramming * DNA methylation in cancer * variant histone H2A and
cancer development * RNA modification * paramutation in plants *
DNMT3L dependent methylation during gametogenesis * non-coding RNA
* bisulphite-enabled technologies * rapid analysis of DNA
methylation * microarray mapping * DNA methylation profiling *
ChIP-sequencing * genome-wide DNA methylation analysis *
epigenetics in maize. In addition there are useful chapters on
bioinformatics in epigenomics, online resources and tools for
epigeneticists, and educational resources for epigenetics. This
up-to-date reference manual is an essential book for those working
in the field and for scientists in other disciplines. It represents
a major information resource on the fascinating and fast-moving
field of epigenetics.
Evolutionary science teaches that humans arose as a population,
sharing common ancestors with other animals. Most readers of the
book of Genesis in the past understood all humans descended from
Adam and Eve, a couple specially created by God. These two
teachings seem contradictory, but is that necessarily so? In the
fractured conversation of human origins, can new insight guide us
to solid ground in both science and theology? In The Genealogical
Adam and Eve, S. Joshua Swamidass tests a scientific hypothesis:
What if the traditional account is somehow true, with the origins
of Adam and Eve taking place alongside evolution? Building on
well-established but overlooked science, Swamidass explains how
it's possible for Adam and Eve to be rightly identified as the
ancestors of everyone. His analysis opens up new possibilities for
understanding Adam and Eve, consistent both with current scientific
consensus and with traditional readings of Scripture. These new
possibilities open a conversation about what it means to be human.
In this book, Swamidass untangles several misunderstandings about
the words human and ancestry, in both science and theology explains
how genetic and genealogical ancestry are different, and how
universal genealogical ancestry creates a new opportunity for
rapprochement explores implications of genealogical ancestry for
the theology of the image of God, the fall, and people "outside the
garden" Some think Adam and Eve are a myth. Some think evolution is
a myth. Either way, the best available science opens up space to
engage larger questions together. In this bold exploration,
Swamidass charts a new way forward for peace between mainstream
science and the Christian faith.
Although the phenomenon of lateral gene transfer has been known
since the 1940's, it was the genomics era that has really revealed
the extent and many facets of this evolutionary/genetic phenomenon.
Even in the early 2000s with but a handful of genomes available it
became clear that the nature of microorganisms is full of genetic
exchange between lineages that are sometimes far apart. The years
following this saw an explosion of genomic data, which shook the
"tree of life" and also raised doubts about the most appropriate
species concepts for prokaryotes. This book attempts to represent
the many-fold contributions of LGT to the evolution of micro and,
to an extent, macro-organisms by focusing on the areas where the
Editor felt it had the largest impact: metabolic innovations and
adaptations and speciation.
Genetic Diseases of the Kidney identifies and analyzes genetic
abnormalities causing renal diseases in human subjects. Although in
a sense the genome contains all the instructions required for the
formation of a phenotype, the information is encoded in an
extremely complicated fashion. In primary genetic diseases, the
genetic instruction specifies a phenotype clearly linked with a
discreet lesion confined to the kidney. However, the genetic
disturbance may be imbedded in a complicated physiologic ensemble,
so that the nexus between the genetic disturbance and the phenotype
may be obscured; in consequence, the causal sequence is extremely
difficult to unravel. In many instances the renal disease is one
component of a complicated systemic hereditary disease, either
monogenic or polygenic. Indeed, renal disease may arise as the sum
of minor inputs from many different, seemingly unrelated genes, so
that the genetic contributions may be difficult to identify.
Confounding the problem further are environmental influences,
originating either in the chromosomal environment from modifier
genes, or in the extra-chromosomal environmental from intrauterine
or postnatal influences. These considerations have determined both
the organization of the text as well as the detailed description of
the genetic disorders and the physiologic derangements that emerge.
* Lays the essential foundation of mammalian genetics principles
for medical professionals with little to no background in
genetics
* Analyzes specific renal diseases - both monogenic disorders
confined to the kidney as well as systemic diseases with renal
involvement - and explains their genetic causes.
*World-renowned editors andauthors offer expert frameworks for
understanding the links between genes and complex clinical
disorders (i.e., lupus, diabetes, HIV, and hypertension)
From the gene that causes people to age prematurely to the "bitter
gene" that may spawn broccoli haters, this book explores a few of
the more exotic locales on the human genome, highlighting some of
the tragic and bizarre ways our bodies go wrong when genes fall
prey to mutation and the curious ways in which genes have evolved
for our survival. Lisa Seachrist Chiu offers here a smorgasbord of
stories about rare and not so rare genetic quirks-the gene that
makes some people smell like a fish, the Black Urine Gene, the
Werewolf Gene, the Calico Cat Gene. We read about the Dracula Gene,
a mutation in zebra fish that causes blood cells to explode on
contact with light, and suites of genes that also influence
behavior and physical characteristics. The Tangier Island Gene,
first discovered after physicians discovered a boy with orange
tonsils (scientists now realize that the child's odd condition
comes from an inability to process cholesterol). And Wilson's
Disease, a gene defect that fails to clear copper from the body,
which can trigger schizophrenia and other neurological symptoms,
and can be fatal if left untreated. On the plus side, we read about
the Myostatin gene, a mutation which allows muscles to become much
larger than usual and enhances strength-indeed, the mutations have
produced beefier cows and at least one stronger human. And there is
also the much-envied Cheeseburger Gene, which allows a lucky few to
eat virtually anything they want and remain razor thin. While
fascinating us with stories of genetic peculiarities, Chiu also
manages to explain much cutting-edge research in modern genetics,
resulting in a book that is both informative and entertaining. It
is a must read for everyone who loves popular science or is curious
about the human body.
Translational Systems Medicine and Oral Disease bridges the gap
between discovery science and clinical oral medicine, providing
opportunities for both the scientific and clinical communities to
understand how to apply recent findings in cell biology, genomic
profiling, and systems medicine to favorably impact the diagnosis,
treatment and management of oral diseases. Fully illustrated
chapters from leading international contributors explore clinical
applications of genomics, proteomics, metabolomics, microbiomics
and epigenetics, as well as analytic methods and functional omics
in oral medicine. Disease specific chapters detail systems
approaches to periodontal disease, salivary gland diseases, oral
cancer, bone disease, and autoimmune disease, among others. In
addition, the book emphasizes biological synergisms across
disciplines and their translational impact for clinicians,
researchers and students in the fields of dentistry, dermatology,
gastroenterology, otolaryngology, oncology and primary care.
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