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Research Description
My research focuses on the biochemical and cell biological mechanisms underlying the inherited retinal disorder retinitis pigmentosa. This disorder is associated with death of the retinal rod photoreceptors, which are responsible for dim light sensistivity, and delayed death of cone photoreceptors, which are responsible for colour and bright light sensitivity. The research projects underway in my lab are focused on the mechanisms by which mutations in the rhodopsin gene cause photoreceptor death.
Currently, members of my lab are investigating the early mechanisms by which mutations in the rhodopsin gene cause cell death, with a focus on mutations that cause misfolding of the rhodopsin protein. We have recently established that some rhodopsin mutations can be “rescued” by a mechanism involving binding of 11-cis retinal chromophore.
In addition, we are investigating the late mechanisms by which death of rod photoreceptors eventually causes a secondary death of cone photoreceptors, as well as other long-term consequences of rod cell death on the retina, including retinal remodeling and the possibility of promoting retinal regeneration.
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biorxiv(2024)
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Journal of Translational Genetics and Genomics (2022): 111-125
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