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Research
Summary

Retinal
Degeneration
Retinitis pigmentosa (RP) affects about 1 in 3,500 people worldwide.
Age-related macular degeneration (AMD) affects as many as 1 in 4 people
by the age of 75 and is the leading cause of blindness in people over
age 50 in the United States. Both RP and AMD have a hereditary basis,
and currently, there is no cure for either of these types of hereditary
retinal degeneration. My clinical specialty is diagnosing and caring
for patients with these diseases, using modalities from
fluorescein angiography, to optical coherence tomography (OCT), to
electroretinography (ERG). |
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In
both RP and AMD, loss of vision is a result of photoreceptor cell
degeneration and death. Treatments that can prevent photoreceptor
degeneration in experimental models of retinal degenerations may
have utility in preventing degeneration in both RP and AMD. I am
interested in investigating novel treatments to preserve retinal
function in patients with RP. My research collaborator, Matthew
M. LaVail demonstrated that subretinal and intravitreal injection
of various growth factors protect the retina from degenerating in
several models of inherited retinal degenerations. More recently,
Dr. LaVail's laboratory has used recombinant adeno-associated virus
(AAV) vectors for sustained application of growth factors and ribozymes
in models of retinal degenerations. Ribozymes are catalytic RNA
molecules that can recognize and cleave other RNA molecules of specific
sequences. In the case of a dominantly inherited disease, ribozymes
could be designed specifically to reduce the abnormal gene product.Dr.
LaVail's laboratory has demonstrated that sub-retinal injection
of AAV-ribozyme vectors with rod opsin promoters in transgenic models
of retinal degeneration can delay photoreceptor loss and elevate
ERG amplitudes. My research is designed to further investigate the
retinal functional response to ribozyme therapy in different experimental
models of dominantly inherited retinal degenerations.
Patients with rod specific defects undergo degeneration not only
of rods, but also of cone photoreceptors. Because cones are responsible
for fine visual acuity and color perception, their degeneration
is particularly disabling for patients. I am
interested in studying the relationship between cone photoreceptor
survival and rod-specific gene defects in hereditary retinal degenerations,
with the goal of preserving visual function mediated by both rods
and cones.
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