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Spring 2018
Choroideremia is an X-linked monogenic inherited retinal disease. It affects males starting in their teenage years with night blindness followed by progressive vision loss starting in the peripherals and ending with total vision loss late in life. It is estimated that 1 in 50,000 individuals...
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Ocular gene transfer communications: Developing ethical frameworks for phase I choroideremia clinical trials
DownloadSpring 2013
I investigate how to ethically communicate about a phase I gene transfer trial for choroideremia, a blinding retinopathy, in light of this novel biotechnology’s portrayal as a potential ‘cure’. I analyzed gene transfer communications in three contexts: (1) interviews with clinicians (n=15),...
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Fall 2017
Protein prenylation is the post-translational addition of isoprenoid lipid moieties to proteins, which regulates their subcellular localization and function. Farnesyl or geranylgeranyl isoprenoids are covalently linked to cysteines residues in a C-terminal prenylation recognition sequence in...
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Fall 2014
Choroideremia (CHM) is an inherited X-linked retinal dystrophy that causes hemizygous males to develop nyctalopia and a progressive loss of their peripheral visual field until only central vision remains. At the end stages of the degeneration, central acuity is also affected. The onset and rate...