There
are
no
therapies
approved
for
the
core
traits
of
autism,
nor
most
genetic
syndromes
linked
to
condition.But
there
many
under
investigation,
and
those
that
do
come
fruition
will
likely
target
one
three
levels
human
biology,
according
an
expert
review
published
in
February
Translational
Psychiatry:
DNA,
mRNA
or
proteins.Such
treatments
could
take
form
gene
therapies,
antisense
oligonucleotides
(ASOs)
smallmolecule
drugs,
respectively,
lead
investigator
Lilia
Iakoucheva,
professor
psychiatry
at
University
California,
San
Diego,
Derek
Hong,
who
worked
on
paper
as
a
graduate
student
Iakoucheva's
lab.Spectrum
caught
up
with
Iakoucheva
Hong
discuss
their
ideas.
This
interview
has
been
edited
length
clarity.Spectrum:
In
paper,
you
say
it's
time
shift
away
from
identifying
more
autism-linked
mutations
doing
something
about
treating
them.Could
talk
little
bit
that?Lilia
Iakoucheva:
What
I
mean
is
we
should
probably
advance
both
fronts.Autism
rare
variants
associated
it,
which
means
have
lots
low-hanging
fruit,
right?I
did
not
stop
identification,
but
think
also
therapies.Whole-genome
sequencing
help
identify
interplay
between
de
novo
common
inherited
alleles.There
evidence
now
play
very
important
role
genetics
especially
cannot
find
high-confidence
variant.Derek
Hong:
To
add
that,
feel
like
recent
whole-exome
results
drove
Human Mutation,
Год журнала:
2024,
Номер
2024, С. 1 - 17
Опубликована: Май 29, 2024
Neurodevelopmental
disorders
(NDDs)
of
genetic
origin
are
a
group
early-onset
neurological
diseases
with
highly
heterogeneous
etiology
and
symptomatic
spectrum
that
includes
intellectual
disability,
autism
disorder,
learning
language
disorders.
One
rare
NDDs
is
associated
dysregulation
the
KMT2
protein
family.
Members
this
family
share
common
methyl
transferase
function
involved
in
haploinsufficiency
For
each
genes,
at
least
one
distinct
disorder
has
been
reported,
yet
clinical
manifestations
often
overlap
for
multiple
these
individually
very
Clinical
care
currently
focused
on
management
symptoms
no
targeted
treatments
available,
illustrating
high
unmet
medical
need
urgency
developing
disease-modifying
therapeutic
strategies.
Antisense
oligonucleotides
(ASOs)
option
to
treat
some
ASOs
RNA-based
can
be
employed
modulate
gene
expression
through
various
mechanisms.
In
work,
we
discuss
phenotypic
features
across
KMT2-associated
which
ASO
approaches
most
suited
treatment
disorder.
We
hereby
address
variant-specific
strategies
as
well
options
applicable
larger
groups
patients.
International Journal of Molecular Sciences,
Год журнала:
2024,
Номер
25(22), С. 11959 - 11959
Опубликована: Ноя. 7, 2024
Alzheimer's
disease
(AD)
is
a
complex
neurodegenerative
disorder
influenced
by
various
genetic
factors.
In
addition
to
the
well-established
amyloid
precursor
protein
(
There
are
no
therapies
approved
for
the
core
traits
of
autism,
nor
most
genetic
syndromes
linked
to
condition.But
there
many
under
investigation,
and
those
that
do
come
fruition
will
likely
target
one
three
levels
human
biology,
according
an
expert
review
published
in
February
Translational
Psychiatry:
DNA,
mRNA
or
proteins.Such
treatments
could
take
form
gene
therapies,
antisense
oligonucleotides
(ASOs)
smallmolecule
drugs,
respectively,
lead
investigator
Lilia
Iakoucheva,
professor
psychiatry
at
University
California,
San
Diego,
Derek
Hong,
who
worked
on
paper
as
a
graduate
student
Iakoucheva's
lab.Spectrum
caught
up
with
Iakoucheva
Hong
discuss
their
ideas.
This
interview
has
been
edited
length
clarity.Spectrum:
In
paper,
you
say
it's
time
shift
away
from
identifying
more
autism-linked
mutations
doing
something
about
treating
them.Could
talk
little
bit
that?Lilia
Iakoucheva:
What
I
mean
is
we
should
probably
advance
both
fronts.Autism
rare
variants
associated
it,
which
means
have
lots
low-hanging
fruit,
right?I
did
not
stop
identification,
but
think
also
therapies.Whole-genome
sequencing
help
identify
interplay
between
de
novo
common
inherited
alleles.There
evidence
now
play
very
important
role
genetics
especially
cannot
find
high-confidence
variant.Derek
Hong:
To
add
that,
feel
like
recent
whole-exome
results
drove
