Author

Asodu Sandeep Sarma

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Open access Sep 2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Inherited retinal diseases (IRDs) are genetically heterogeneous and often remain unsolved despite advanced sequencing. This study investigated two siblings from a consanguineous Arab-Christian family presenting with a syndromic IRD. Exome sequencing revealed a homozygous frameshift variant (c.1535_1538del:(p.Lys512Argf...

Asodu Sandeep Sarma, Neta Barnoy, P. Gopalakrishnan et al. · Clinical Genetics · 0 citations

Review Open access Jul 2026

Single anticodon-edited tRNA therapy targeting highly prevalent Arg>Ter premature termination codons causing inherited retinal diseases

An optimized ACE-tRNA (V3) that achieved up to 86% readthrough across 13 clinically relevant variants, restored native PRCD localization in the arRP-causing p.R22* mutant, and demonstrated activity in photoreceptor-like cells is developed.

Asodu Sandeep Sarma, Alaa Saleh, Jonathan Eintracht et al. · bioRxiv · 0 citations