Publications by authors named "J Comander"

Purpose: is a key enzyme in the visual cycle that regenerates 11-cis retinal. Mutations in 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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Base editing shows promise for the correction of human mutations at a higher efficiency than other repair methods and is especially attractive for mutations in large genes that are not amenable to gene augmentation therapy. Here, we demonstrate a comprehensive workflow for in vitro screening of potential therapeutic base editing targets for the USH2A gene and empirically validate the efficiency of adenine and cytosine base editor/guide combinations for correcting 35 USH2A mutations. Editing efficiency and bystander edits are compared between different target templates (plasmids vs.

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Purpose: To assess the safety and efficacy of AAV5-hRKp.RPGR in participants with retinitis pigmentosa GTPase regulator (RPGR)-associated X-linked retinitis pigmentosa (XLRP).

Design: Open-label, phase 1/2 dose escalation/expansion study (ClinicalTrials.

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Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a potential therapeutic modality for a disease-causing variant such as inherited retinal disease (IRD). Here, we apply structure-based network analysis (SBNA), which has been successfully utilized to identify variant-constrained amino acid residues in viral proteins, to identify residues that may cause IRD if subject to missense mutation.

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Article Synopsis
  • The study focuses on EDIT-101, a CRISPR-based gene-editing treatment aimed at inherited retinal degeneration originating from a specific harmful genetic variant.
  • Conducted on individuals aged 3 and older, the phase 1-2 trial administered different dosages of EDIT-101 via subretinal injection to assess safety and efficacy, with a primary focus on adverse events and secondary outcomes related to visual acuity and quality of life.
  • Results indicated that no serious side effects were linked to the treatment, with notable vision improvements observed in 64% of participants, suggesting potential benefits of the gene-editing approach for those with this form of retinal degeneration.
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