Not exact matches
«We introduce a
gene that encodes a light - sensitive protein,
and we target the expression of that
gene to a subset of
retinal cells.»
A new
gene therapy treatment has restored some sight in a handful of blind patients suffering from Leber's congenital amaurosis, a syndrome in which, because of a broken or missing
gene called RPE65,
retinal photoreceptor
cells malfunction
and eventually die.
The researchers used tools of epigenomic analysis to trace the specific epigenetic switches controlling each of thousands of
genes in both mouse
and human
retinal cells as the
cells progressed through development.
Dyer
and his colleagues also mapped the three - dimensional organization of the
retinal epigenome to discover how
retinal cells package their
genes in concentric regions of the
cell nucleus.
In our studies, we're trying to decipher the functional significance of why the
retinal cell packs some
genes away
and makes others more accessible.
Spark CEO Jeff Marrazzo says their more potent vector
and differences in how the treatment is made, such as the company's use of a surfactant to make sure the vector doesn't stick to the vial when the surgeon injects it, may result in a higher dose of the RPE65
gene getting into
retinal cells and long - lasting effects.
They have learned how to turn on
and off essential
genes and how to transform embryonic stem
cells into
retinal cells, which can be transplanted into mice to restore vision.
In research published this week in the Journal of Neuroscience, University at Buffalo scientists
and colleagues focused on a particular protein, called a transcription factor, that regulates
gene activity necessary for the development of one type of
retinal neuron, the horizontal
cells.
In recent years, scientists have grown new
retinal cells from stem
cells and shown progress in developing an effective
gene therapy.
Cultured mouse, monkey,
and human pluripotent
cells can be driven down a
retinal lineage as determined by the expression of marker
genes, including the EFTFs [2]--[4].
Farkas et al. [29]
and Ivanov et al. [30] reported on
gene expression profiling in purified populations of rat
retinal ganglion
cells.
Importantly, 25 of the 115 transcripts, shared by EFTF - expressing pluripotent
cells and the EF, encode for 15
genes that are both expressed in
retinal stem / progenitor
cells and required for normal eye formation in frogs, fish, mice, or humans (Figure 1C; Table S1).
However, when forced to express the eye field transcription factor (EFTF)
genes, the
cells differentiate into all seven
retinal cell classes
and eventually organize themselves into a functioning eye that can detect light
and guide tadpoles in a vision - based behavior.
Dominic Eberle (Ader, TUD)-- «
Cell transplantation
and gene therapy approaches for the treatment of
retinal degenerative disorders» (2012)
Many of the most promising approaches fall into four categories: the
retinal prosthetic,
gene therapy, stem
cell treatments,
and a technique that uses optogenetics, a way to engineer nerves to fire in response to bursts of light.
Some researchers seek
gene therapies that might act more broadly on
retinal cells, perhaps by using
genes that produce proteins supporting the growth
and health of nerve
cells, which could be delivered before significant vision loss occurs.
The treatment could help people who have a fault in a
gene called RPE65, which causes problems in the
retinal pigment epithelium (RPE), a thin layer of
cells that support
and nourish photoreceptors.
Dr. Otteson studied how
retinal ganglion
cells turn on
and off the
genes that regulate the normal patterns of connections during optic nerve development.
Our objective is to determine whether this mutation is involved in AMD by (1) understanding the functional consequences of this genomic variation on expression of COL8A1
and / or its neighbor
genes,
and (2) investigating photoreceptors
and RPE
cell survival,
retinal and choroidal angiogenesis, structure integrity of the choroid / Bruch's membrane,
and the quality of the vision, in organisms with the COL8A1 mutation.
Retinal ganglion
cells downregulate
gene expression
and lose their axons within the optic nerve head in a mouse glaucoma model Soto, I., Oglesby, E., Buckingham, B.P., Son, J.L., Roberson, E.D., Steele, M.R., Inman, D.M., Vetter, M.L., Horner, P.J. & Marsh - Armstrong, N. (2008) Journal of Neuroscience, 28:548 - 61.