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Targeted genome editing in human repopulating haematopoietic stem cells.
[severe combined immunodeficiency]
Targeted
genome
editing
by
artificial
nucleases
has
brought
the
goal
of
site-
specific
transgene
integration
and
gene
correction
within
the
reach
of
gene
therapy
.
However
,
its
application
to
long
-term
repopulating
haematopoietic
stem
cells
(
HSCs
)
has
remained
elusive
.
Here
we
show
that
poor
permissiveness
to
gene
transfer
and
limited
proficiency
of
the
homology-directed
DNA
repair
pathway
constrain
gene
targeting
in
human
HSCs
.
By
tailoring
delivery
platforms
and
culture
conditions
we
overcame
these
barriers
and
provide
stringent
evidence
of
targeted
integration
in
human
HSCs
by
long
-term
multilineage
repopulation
of
transplanted
mice
.
We
demonstrate
the
therapeutic
potential
of
our
strategy
by
targeting
a
corrective
complementary
DNA
into
the
IL
2
RG
gene
of
HSCs
from
healthy
donors
and
a
subject
with
X-
linked
severe
combined
immunodeficiency
(
SCID
-X
1
)
.
Gene
-edited
HSCs
sustained
normal
haematopoiesis
and
gave
rise
to
functional
lymphoid
cells
that
possess
a
selective
growth
advantage
over
those
carrying
disruptive
IL
2
RG
mutations
.
These
results
open
up
new
avenues
for
treating
SCID
-X
1
and
other
diseases
.
Diseases
Validation
Diseases presenting
"gene correction within the reach of gene therapy"
symptom
severe combined immunodeficiency
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