Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Pathogenesis-based therapies in ichthyoses.
[child syndrome]
During
the
past
20
years
,
tremendous
progress
has
been
made
in
our
understanding
of
the
molecular
basis
of
many
genetic
skin
conditions
.
The
translation
of
these
laboratory
findings
into
effective
therapies
for
affected
individuals
has
been
slow
,
however
,
in
large
part
due
to
the
risk
of
carcinogenesis
from
random
viral
genomic
integration
and
the
lack
of
efficacy
of
topically
applied
genetic
material
and
most
proteins
.
As
intervention
at
the
gene
level
still
appears
remote
for
most
genetic
disorders
,
increased
knowledge
about
the
cellular
and
biochemical
pathogenesis
of
disease
allows
specific
targeting
of
pathways
with
existing
and
/
or
novel
drugs
and
molecules
.
In
contrast
to
the
requirement
for
personalization
of
most
gene
-based
approaches
,
pathogenesis-based
therapy
is
pathway
specific
,
and
in
theory
,
it
should
have
broader
applicability
.
In
this
chapter
,
we
provide
an
overview
of
the
pathoetiology
of
the
various
types
of
ichthyoses
and
demonstrate
how
a
pathogenesis-based
approach
can
potentially
lead
to
innovative
treatments
for
these
conditions
.
Notably
,
this
strategy
has
been
successfully
validated
for
the
treatment
of
the
rare
X-
linked
dominant
condition
,
CHILD
syndrome
,
in
which
topical
applications
of
cholesterol
and
lovastatin
together
to
affected
skin
resulted
in
marked
improvement
of
the
skin
phenotype
.
Diseases
Validation
Diseases presenting
"the lack of efficacy of topically applied genetic material and most proteins"
symptom
child syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom