

One shot of gene therapy and children with congenital blindness can now see - Anon84
http://esciencenews.com/articles/2009/10/25/1.shot.gene.therapy.and.children.with.congenital.blindness.can.now.see

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ramanujan
Somewhat misleading headline. The kids didn't get their sight entirely
restored by a long shot. Still, big breakthrough and worthy of an NEJM paper.

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Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases
with onset during childhood. One form of the disease, LCA2, is caused by
mutations in the retinal pigment epithelium-specific 65-kDa protein gene
(RPE65). We investigated the safety of subretinal delivery of a recombinant
adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA)
(ClinicalTrials.gov number, NCT00516477 [ClinicalTrials.gov]). Three patients
with LCA2 had an acceptable local and systemic adverse-event profile after
delivery of AAV2.hRPE65v2. Each patient had a modest improvement in measures
of retinal function on subjective tests of visual acuity. In one patient, an
asymptomatic macular hole developed, and although the occurrence was
considered to be an adverse event, the patient had some return of retinal
function. Although the follow-up was very short and _normal vision was not
achieved_ , this study provides the basis for further gene therapy studies in
patients with LCA.

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carbocation
The abstract you posted is the same one that I linked to below. This is an
NEJM paper from 2008.

The article being discussed in the story at hand is from this week's Lancet.
In this week's story, some of the children are no longer legally blind, can
play, and can participate in the classroom without visual aids. Some report
seeing their parents' faces for the first time. This is a very impressive
result, and will be transformative in the lives of these children.

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pmichaud
I really thought this was going to be one of those linkbait stories about some
underqualified guy who wrote a paper that isn't peer reviewed about amoebas,
so the author forms a tenuous connection between the paper and some future
possibility of a treatment.

But I'm impressed, this seems like a major step, and I'm sure it's going to
impact the patients' lives dramatically. I really hope the changes to their
condition last.

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swombat
It's annoying that they don't mention whether it's theoretically possible for
this treatment to apply to other diseases and/or impairments.

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carbocation
Here is an article visible if you are at a university:
<http://www.ncbi.nlm.nih.gov/pubmed/18441370>

In brief, this is a disease caused by an effective deficiency of a protein. It
is theoretically possible to apply similar methods to other diseases of
genetic deficiency. Other approaches are promising for diseases of
overabundance or adverse gain of function mutations.

