Prof. Jane Sowden
Eye Development and Repair Group
Group Leader: Prof. Jane Sowden
Research
in the eye development and repair group aims to identify the genetic
pathways underlying normal eye development and to understand how
mutations in key genes cause eye malformation and disease. Our research
is focussed on understanding the developmental regulation of ocular stem
and progenitor cells that offer the potential for repair and
regeneration of diseased eye tissue.
In the UK, 1 in
every 1,000 children are visually impaired or blind. More than a quarter
of all cases are caused by congenital eye defects. These include the
condition microphthalmia, in which the embryonic eye fails to grow,
conditions involving malformations of the anterior segment of the eye
and glaucoma, and conditions involving abnormal development and
degeneration of photoreceptor cells. Congenital eye defects are often
found in association with other non ocular malformations and children
with these syndromes are frequently seen by clinical colleagues at Great
Ormond Street Hospital for Children NHS Trust.
Mutations in
genes encoding transcription factors are the most common known cause of
congenital eye defects. To improve understanding of the aetiology of
these conditions, a range of experimental approaches (molecular biology,
embryology, cell biology, genetics) are being used to explore the
function and interactions between key transcription factors during eye
development. The prevalence of different types of genetic change in
affected individuals is being analysed to improve diagnosis and identify
asssociated risk factors.
A central research theme is study
of the molecular mechanisms regulating proliferation of retinal
stem/progenitor cells and the generation of retinal neurons from these
progenitor cells.
Research includes investigation of
embryonic retinal progenitor cells and retinal stem/progenitor cells
derived from the adult eye. We have recently shown that transplanted
photoreceptor precursors can improve visual function in animal models of
retinal disease. We are pursuing development of retinal stem therapy
for the treatment of retinal disease in collaboration with Professor
Robin Ali at
Adult-derived
retinal stem cells are potentially useful as a source of new neurons
for treatment of retinal disease. Identification of genetic pathways
and environmental conditions that are sufficient to promote production
of new retinal neurons from retinal stem cells is an important current
goal.
For Prof. Jane Sowden's publications
Ongoing projects
- Retinal stem cells and their potential for treatment of retinal disease
- A study of microphthalmia and the role of the Chx10 gene in retinal progenitor cells
- Altered gene dosage as a mechanism for congenital eye defects and glaucoma
- Molecular genetic analysis of glaucoma and abnormal development of the anterior segment of the eye
- Analysis of the role of T-box genes in patterning and development of the retina and nervous system
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| Proliferation of retinal progenitor cells in the optic cup is reduced by lack of the Chx10 transcription factor. Phosphohistone H3 immuno-labelling of mitotic retinal progenitor cells (green) at the ventricular surface in the embryonic eye. +/+ is a normal eye and -/- is a microphthalmic eye lacking Chx10. |
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| Retinal stem cells isolated from the ciliary epithelium of the adult ciliary body proliferate and form neurospheres in culture. Immuno-labeled with the progenitor cell marker, nestin (green). |
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| Molecular patterning across the dorso-ventral axis of the embryonic eye. Tbx5 gene expression (blue) is restricted to retinal progenitor cells in the dorsal peripheral region of the developing optic cup. |
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| Transplanted photoreceptor precursor cells integrate and develop into mature photoreceptor cells (green) that form functional connections with the host retina (blue) and improve visual function [see MacLaren, Pearson et al Nature 2006; 44:203-7]. |
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Transplanted cone photoreceptor (yellow) within the outer nuclear layer (magenta) of a recipient retina [see Lakowski, Baron et al (2010) Hum. Mol. Genet. doi:10.1093/hmg/ddq378.] |
Page last modified on 13 jun 13 11:17
