The MED13L Foundation strategic research plan: a roadmap to the future
Therapeutic Advances in Rare Disease,
Год журнала:
2024,
Номер
5
Опубликована: Янв. 1, 2024
A
strategic
research
plan
(SRP)
serves
as
a
compass
for
the
patient
advocacy
organizations
driving
therapeutic
options
their
rare
disorder.
The
MED13L
Foundation
commissioned
SRP
in
2022
through
COMBINEDBrain,
consortium
of
neurodevelopmental
disorders,
working
toward
clinical
trial
readiness.
is
an
objective
evaluation
literature
including
and
basic
science
knowledge
interwoven
with
assessment
preclinical
readiness
tools
necessary
achieving
interventions.
Clinical
conducted
review
documenting
symptoms
variant
information
each
individual
syndrome.
Data
collated
presented
summary,
providing
any
unique
genotype–phenotype,
applicable.
Scientific
reviewed
same
manner,
identifying
areas
opportunity
to
expand
Researchers
clinicians
responsible
growing
understanding
syndrome
are
interviewed
shared
create
open
collaborative
network.
Preclinical
largely
framed
Food
Drug
Administration
guidelines
development
therapeutics
from
bench
bedside.
Finally,
infrastructure
community
engagement
assessed
strengths
opportunities
elevate
bond
formed
drive
patient-centered
forward.
Completed,
this
becomes
living
resource
set
priorities,
share
researchers
clinicians,
provide
direction
reach
organizational
goals,
therapies
affected
by
Язык: Английский
Neural Connections and Molecular Mechanisms Underlying Motor Skill Deficits in Genetic Models of Autism Spectrum Disorders
Progress in Neurobiology,
Год журнала:
2025,
Номер
unknown, С. 102759 - 102759
Опубликована: Апрель 1, 2025
Язык: Английский
HERVs Endophenotype in Autism Spectrum Disorder: Human Endogenous Retroviruses, Specific Immunoreactivity, and Disease Association in Different Family Members
Microorganisms,
Год журнала:
2024,
Номер
13(1), С. 9 - 9
Опубликована: Дек. 24, 2024
Increasing
evidence
indicates
that
human
endogenous
retroviruses
(HERVs)
are
important
to
health
and
an
underexplored
component
of
many
diseases.
Certain
HERV
families
show
unique
expression
patterns
immune
responses
in
autism
spectrum
disorder
(ASD)
patients
compared
healthy
controls,
suggesting
their
potential
as
biomarkers.
Despite
these
interesting
findings,
the
role
HERVs
ASD
needs
be
further
investigated.
In
this
review,
we
discuss
recent
advances
genetic
research
on
ASD,
with
a
particular
emphasis
implications
neurodevelopment
future
genomic
initiatives
aimed
at
discovering
ASD-related
genes
through
Artificial
Intelligence.
Given
pro-inflammatory
autoimmune
characteristics,
existing
literature
suggests
may
contribute
onset
or
worsening
individuals
predisposition.
Therefore,
propose
investigating
fundamental
properties
could
not
only
improve
therapies
but
also
pave
way
for
new
therapeutic
strategies.
Язык: Английский
Double-empathy problem; dup15q syndrome; myelin loss in aging autistic adults
The Transmitter,
Год журнала:
2024,
Номер
unknown
Опубликована: Янв. 1, 2024
Язык: Английский
Artificial intelligence networks combining histopathology and machine learning can extract axon pathology in autism spectrum disorder
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 26, 2024
Abstract
Axon
features
that
underlie
the
structural
and
functional
organization
of
cortical
pathways
have
distinct
patterns
in
brains
neurotypical
controls
(CTR)
compared
to
individuals
with
Autism
Spectrum
Disorder
(ASD).
However,
detailed
axon
study
demands
labor-intensive
surveys
time-consuming
analysis
microscopic
sections
from
post-mortem
human
brain
tissue,
making
it
challenging
systematically
examine
large
regions
brain.
To
address
these
challenges,
we
developed
an
approach
uses
machine
learning
automatically
classify
ASD
CTR
brains,
while
also
considering
different
white
matter
regions:
superficial
(SWM),
which
contains
a
majority
axons
connect
nearby
areas,
deep
(DWM),
is
comprised
exclusively
by
participate
long-range
pathways.
The
result
was
neural
network
can
successfully
below
anterior
cingulate
cortex
(ACC)
groups
98%
accuracy,
distinguishing
between
DWM
SWM
pathway
composition
high
average
up
80%.
Multidimensional
scaling
sensitivity
maps
further
underscored
reliability
vs
classification,
based
on
consistency
pathology,
highlighting
important
role
location
constrains
dysfunction,
several
shared
anatomical
markers.
Large
datasets
be
used
expand
training,
validation,
testing
this
potential
automate
high-resolution
so
across
health
disease.
One
Sentence
Statement
Histopathology-trained
AI
identify
disruptions
guide
development
diagnostics
targeted
therapeutics.
Язык: Английский
Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective
Reviews in the Neurosciences,
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 19, 2024
Abstract
Autism
spectrum
disorders
(ASDs)
are
neurodevelopmental
conditions
characterized
by
deficits
in
social
relationships
and
communication
restrictive,
repetitive
behaviors
interests.
ASDs
form
a
heterogeneous
group
from
clinical
genetic
perspective.
Currently,
diagnosis
is
based
on
the
observation
of
individual’s
behavior.
The
subjective
nature
behavioral
diagnoses,
context
heterogeneity,
contributes
to
significant
variation
age
at
ASD
diagnosis.
Early
detection
has
been
proved
be
critical
ASDs,
as
early
start
appropriate
therapeutic
interventions
greatly
improve
outcome
for
some
children.
Structural
magnetic
resonance
imaging
(MRI)
widely
used
diagnostic
work-up
conditions,
including
mostly
brain
malformations
detection.
Recently,
focus
shifted
towards
quantitative
MRI
parameters,
aiming
identify
subtle
changes
that
may
establish
biomarkers.
have
strong
component;
deletions
duplications
several
genomic
loci
strongly
associated
with
risk.
Consequently,
multitude
neuroimaging
findings
emerged
recent
years.
association
gross
or
morphometry
volumes
different
defects
potential
bring
new
insights
regarding
normal
development
pathomechanisms
various
affecting
brain.
Still,
implications
these
discoveries
impact
abnormalities
structure
function
unclear.
Here
we
review
literature
correlated
most
prevalent
imbalances
ASD,
discuss
impact.
Язык: Английский
Task-irrelevant features in working memory alter current visual processing
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Окт. 29, 2024
Abstract
Higher-level
cognition
depends
on
visual
working
memory
(VWM),
the
ability
of
our
brain
to
maintain
and
manipulate
internal
representations
images
that
are
no
longer
presented
us.
An
important
question
in
this
field
is
whether
VWM
represented
a
sensory
or
nonsensory
manner.
Progress
has
been
made
understanding
features
be
remembered,
but
representational
nature
memory-irrelevant
unclear.
Here,
we
used
dual-task
paradigm
investigate
how
when
interact
with
concurrent
information.
In
series
experiments,
participants
were
asked
perform
search
task
(Experiment
1)
perceptual
discrimination
(Experiments
2
3)
involving
memory-
irrelevant
feature
while
simultaneously
holding
other
for
later
retrieval.
Experiment
1
showed
biases
allocation
attention
color
matching
color.
More
importantly,
degree
VWM-biased
decreased
monotonically
decreasing
similarity,
behavioral
monotonic
gradient
profile
resembled
tuning
curve
feature-selective
neurons
early
cortex.
revealed
biased
ongoing
perception,
as
indicated
by
shifted
threshold.
3
further
demonstrated
perception
occurs
only
at
short
delays
not
prolonged
delays.
Our
results
suggest
analog
limited
period
time
areas
where
it
was
initially
processed.
extend
recruitment
theory
VWM.
Язык: Английский