Genetics
has
been
an
important
tool
for
discovering
new
aspects
of
biology
across
life.
In
humans,
there
is
growing
momentum
behind
the
application
this
knowledge
to
drive
innovation
in
clinical
care,
most
notably
through
developments
precision
medicine.
Nowhere
impact
genetics
on
practice
more
striking
than
field
rare
disorders.
For
these
conditions,
individual
disease
susceptibility
influenced
by
DNA
sequence
variation
a
single
or
small
number
genes.
contrast,
common
disorders
are
multifactorial
and
caused
complex
interplay
multiple
genetic,
environmental
stochastic
factors.
The
longstanding
division
human
into
components
obscured
continuum
traits
echoes
century-old
debate
between
Mendelian
biometric
views
genetics.
article,
we
discuss
differences
data
concepts
Opportunities
unify
two
areas
noted
importance
adopting
holistic
perspective
that
integrates
diverse
genetic
factors
discussed.
ACS Chemical Neuroscience,
Год журнала:
2024,
Номер
15(15), С. 2665 - 2694
Опубликована: Июль 12, 2024
Polyglutamine
(polyQ)
diseases
are
a
group
of
inherited
neurodegenerative
disorders
caused
by
expanded
cytosine-adenine-guanine
(CAG)
repeats
encoding
proteins
with
abnormally
polyglutamine
tract.
A
total
nine
polyQ
have
been
identified,
including
Huntington's
disease,
six
spinocerebellar
ataxias,
dentatorubral
pallidoluysian
atrophy
(DRPLA),
and
spinal
bulbar
muscular
(SBMA).
The
this
class
each
considered
rare,
yet
constitute
the
largest
monogenic
disorders.
While
subtype
has
its
own
causative
gene,
certain
pathologic
molecular
attributes
implicated
in
virtually
all
diseases,
protein
aggregation,
proteolytic
cleavage,
neuronal
dysfunction,
transcription
dysregulation,
autophagy
impairment,
mitochondrial
dysfunction.
Although
animal
models
disease
available
helping
to
understand
their
pathogenesis
access
disease-modifying
therapies,
there
is
neither
cure
nor
prevention
for
these
only
symptomatic
treatments
available.
In
paper,
we
analyze
data
from
CAS
Content
Collection
summarize
research
progress
diseases.
We
examine
publication
landscape
area
effort
provide
insights
into
current
knowledge
advances
developments.
review
most
discussed
concepts
assess
strategies
combat
Finally,
inspect
clinical
applications
products
against
development
pipelines.
objective
broad
overview
evolving
regarding
outline
challenges,
evaluate
growth
opportunities
further
efforts
combating
Abstract
The
last
decade
has
seen
advancements
in
sequencing
technologies
and
laboratory
preparation
protocols
for
ancient
DNA
(aDNA)
that
have
rapidly
been
applied
multiple
research
areas
thus
enabling
large-scale
scientific
research.
Future
could
also
refine
our
understanding
of
the
evolution
humans,
non-human
animals,
plants,
invertebrate
specimens,
microorganisms.
The
exploration
of
targeted
therapy
has
proven
to
be
a
highly
promising
avenue
in
the
realm
drug
development
research.
human
body
generates
substantial
amount
free
radicals
during
metabolic
processes,
and
if
not
promptly
eliminated,
these
can
lead
oxidative
stress,
disrupting
homeostasis
potentially
contributing
chronic
diseases
cancers.
Before
contemporary
medicine
with
synthetic
pharmaceuticals
antioxidants,
there
was
long-standing
practice
employing
raw,
natural
ingredients
cure
variety
illnesses.
This
persisted
even
after
active
antioxidant
molecules
were
known.
ability
antioxidants
neutralise
excess
so
prevent
wide
range
term
"natural
antioxidant"
refers
compounds
derived
from
plants
or
other
living
organisms
that
have
control
production
radicals,
scavenge
them,
stop
radical-mediated
chain
reactions,
lipid
peroxidation.
These
strong
potential
inhibit
stress.
Phytochemicals
(antioxidants)
plants,
such
as
polyphenols,
carotenoids,
vitamins,
others,
are
central
discussion
antioxidants.
Not
only
may
chemicals
increase
endogenous
defenses,
affect
communication
cascades,
gene
expression,
but
they
also
shown
radical
scavenging
properties.
study
comprehensively
summarizes
primary
classes
found
different
plant
animal
source
contribute
prevention
treatment
diseases.
Additionally,
it
outlines
research
progress
future
prospects.
discoveries
establish
theoretical
groundwork
for
pharmacological
present
inventive
ideas
addressing
challenges
medical
treatment.
Journal of Genetic Engineering and Biotechnology,
Год журнала:
2024,
Номер
22(1), С. 100340 - 100340
Опубликована: Янв. 23, 2024
Zygotic
Genome
Activation
(ZGA)
is
a
crucial
developmental
milestone
in
early
embryogenesis,
marking
the
transition
from
maternal
to
embryonic
control
of
development.
This
process,
which
varies
timing
across
species,
involves
activation
genome,
paving
way
for
subsequent
cell
differentiation
and
organismal
Recent
advances
genomics
reproductive
medicine
have
highlighted
potential
ZGA
realm
genetic
screening,
providing
window
into
integrity
developing
embryo
at
its
earliest
stages.
The
intersection
screening
primarily
emerges
context
preimplantation
diagnosis
(PGD)
(PGS).
These
techniques,
often
employed
during
assisted
technologies,
aim
detect
abnormalities
or
chromosomal
imbalances
before
implantation.
Given
that
represents
onset
gene
expression,
understanding
intricacies
can
significantly
enhance
accuracy
predictive
power
these
processes.
With
advent
next-generation
sequencing
other
high-throughput
genomic
detailed
mapping
transcriptomic
changes
has
become
feasible.
Such
advancements
deepened
our
insights
dynamics
development
disorders.
As
knowledge
this
expands,
it
promises
revolutionize
capabilities
detecting,
understanding,
potentially
rectifying
anomalies
stages
human
life,
thereby
optimizing
outcomes.
Mammalian Genome,
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 26, 2024
There
is
a
thriving,
worldwide,
biomedical
research
community
working
to
understand
the
molecular
bases
of
diseases
all
types,
continuously
driving
improved
diagnostics
and
therapies.
Developments
in
genetics
experimental
medicine
are
yielding
novel
genetic
therapies
that
were
hardly
dreamt
40
years
ago.
But
along
with
these
scientific
achievements,
there
exist
challenges
ensuring
21st
century
medical
interventions
accessible
who
need
them.
This
perspective
will
discuss
how
preclinical
research,
focus
on
rare
diseases,
can
better
contribute
healthcare
ecosystems
oriented
towards
greater
health
equity.
contribution
may
require
changes
prevailing
culture
support
from
relevant
institutions
wider
community.
Neurodegenerative
diseases
present
complex
genetic
architectures,
reflecting
a
continuum
from
monogenic
to
oligogenic
and
polygenic
models.
Recent
advances
in
multi-omics
data,
coupled
with
systems
genetics,
have
significantly
refined
our
understanding
of
how
these
data
impact
neurodegenerative
disease
mechanisms.
To
contextualize
discoveries,
we
provide
comprehensive
critical
overview
architecture
concepts,
Mendelian
inheritance
the
latest
insights
omnigenic
We
explore
roles
common
rare
variants,
gene-gene
gene-environment
interactions,
epigenetic
influences
shaping
phenotypes.
Additionally,
emphasize
importance
layers
including
genomic,
transcriptomic,
proteomic,
epigenetic,
metabolomic
elucidating
molecular
mechanisms
underlying
neurodegeneration.
Special
attention
is
given
missing
heritability
contribution
particularly
context
pleiotropy
network
pleiotropy.
examine
application
single-cell
omics
technologies,
transcriptome-wide
association
studies,
epigenome-wide
studies
as
key
approaches
for
dissecting
at
tissue-
cell-type
levels.
Our
review
introduces
OmicPeak
Disease
Trajectory
Model,
conceptual
framework
progression,
which
integrates
across
biological
time
points.
This
highlights
adopting
genetics
approach
unravel
diseases.
Finally,
this
emerging
holistic
exploration
intricate
landscape
aim
foundation
establishing
more
architectures
diseases,
enhancing
diagnostic
precision,
predicting
pathogenic
mechanisms,
refining
therapeutic
strategies
conditions.
Genetics
has
been
an
important
tool
for
discovering
new
aspects
of
biology
across
life.
In
humans,
there
is
growing
momentum
behind
the
application
this
knowledge
to
drive
innovation
in
clinical
care,
most
notably
through
developments
precision
medicine.
Nowhere
impact
genetics
on
practice
more
striking
than
field
rare
disorders.
For
these
conditions,
individual
disease
susceptibility
influenced
by
DNA
sequence
variation
a
single
or
small
number
genes.
contrast,
common
disorders
are
multifactorial
and
caused
complex
interplay
multiple
genetic,
environmental
stochastic
factors.
The
longstanding
division
human
into
components
obscured
continuum
traits
echoes
century-old
debate
between
Mendelian
biometric
views
genetics.
article,
we
discuss
differences
data
concepts
Opportunities
unify
two
areas
noted
importance
adopting
holistic
perspective
that
integrates
diverse
genetic
factors
discussed.
Genetics
has
been
an
important
tool
for
discovering
new
aspects
of
biology
across
life.
In
humans,
there
is
growing
momentum
behind
the
application
this
knowledge
to
drive
innovation
in
clinical
care,
most
notably
through
developments
precision
medicine.
Nowhere
impact
genetics
on
practice
more
striking
than
field
rare
disorders.
For
these
conditions,
individual
disease
susceptibility
influenced
by
DNA
sequence
variation
a
single
or
small
number
genes.
contrast,
common
disorders
are
multifactorial
and
caused
complex
interplay
multiple
genetic,
environmental
stochastic
factors.
The
longstanding
division
human
into
components
obscured
continuum
traits
echoes
century-old
debate
between
Mendelian
biometric
views
genetics.
article,
we
discuss
differences
data
concepts
Opportunities
unify
two
areas
noted
importance
adopting
holistic
perspective
that
integrates
diverse
genetic
factors
discussed.
Genetics
has
been
an
important
tool
for
discovering
new
aspects
of
biology
across
life.
In
humans,
there
is
growing
momentum
behind
the
application
this
knowledge
to
drive
innovation
in
clinical
care,
most
notably
through
developments
precision
medicine.
Nowhere
impact
genetics
on
practice
more
striking
than
field
rare
disorders.
For
these
conditions,
individual
disease
susceptibility
influenced
by
DNA
sequence
variation
a
single
or
small
number
genes.
contrast,
common
disorders
are
multifactorial
and
caused
complex
interplay
multiple
genetic,
environmental
stochastic
factors.
The
longstanding
division
human
into
components
obscured
continuum
traits
echoes
century-old
debate
between
Mendelian
biometric
views
genetics.
article,
we
discuss
differences
data
concepts
Opportunities
unify
two
areas
noted
importance
adopting
holistic
perspective
that
integrates
diverse
genetic
factors
discussed.
Genetics
has
been
an
important
tool
for
discovering
new
aspects
of
biology
across
life.
In
humans,
there
is
growing
momentum
behind
the
application
this
knowledge
to
drive
innovation
in
clinical
care,
most
notably
through
developments
precision
medicine.
Nowhere
impact
genetics
on
practice
more
striking
than
field
rare
disorders.
For
these
conditions,
individual
disease
susceptibility
influenced
by
DNA
sequence
variation
a
single
or
small
number
genes.
contrast,
common
disorders
are
multifactorial
and
caused
complex
interplay
multiple
genetic,
environmental
stochastic
factors.
The
longstanding
division
human
into
components
obscured
continuum
traits
echoes
century-old
debate
between
Mendelian
biometric
views
genetics.
article,
we
discuss
differences
data
concepts
Opportunities
unify
two
areas
noted
importance
adopting
holistic
perspective
that
integrates
diverse
genetic
factors
discussed.
