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Berman-Gund Laboratory

As seen in: BioRxiv
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Articles

Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene

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By Jason Comander, Berman-Gund Laboratory, Leila Azizzadeh Pormehr, Kannan Vrindavan Manian
| BioRxiv
Abstract Purpose: RPE65 is a key enzyme in the visual cycle that regenerates 11-cis retinal. Mutations in RPE65 cause a retinal dystrophy that is treatable with an FDA-approved gene therapy. Variants of unknown significance (VUS) on genetic testing can prevent patients from obtaining a firm genetic diagnosis and accessing gene therapy.
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Association of Vitamin A Supplementation With Disease Course in Children With Retinitis Pigmentosa

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By West Hartford, Eliot L. Berson, Berman-Gund Laboratory
| JAMA (The Journal of the American Medical Association) Verified
Question  What were the outcomes in children with common forms of retinitis pigmentosa following supplementation with vitamin A palmitate? Findings  In this case-control study of children with retinitis pigmentosa, including 55 taking an age-adjusted dose of vitamin A (5000-15 000 IU/d) and 25 not taking vitamin A, vitamin A supplementation was associated with almost 50% slowing of the mean exponential rate of decline of full-field cone electroretinogram amplitude.
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