Al-Quds University researcher Dr. Osama Essawi participated in the 15th International Conference on Osteogenesis Imperfecta (ICOI 2025), held in Hong Kong, where he delivered an oral presentation highlighting groundbreaking research on a novel 5’UTR variant in the SEC24D gene, which uncovers a previously unrecognized translational dysfunction mechanism in Osteogenesis Imperfecta (OI).

The study identified a pathogenic non-coding variant (c.-167C>T) in a Palestinian family affected by severe OI and craniofacial abnormalities. Functional analyses in patient-derived fibroblasts revealed reduced SEC24D protein expression with unchanged mRNA levels, confirming a post-transcriptional defect. The research team further demonstrated that antisense oligonucleotide (ASO) therapy can restore normal translation, offering a promising RNA-based therapeutic strategy for genetic disorders caused by non-coding mutations.

Beyond this work, Dr. Essawi and a team of medical students at Al-Quds University are actively developing the first national database of genetic disorders in Palestine. This initiative aims to enhance genetic diagnostics, enable research collaboration, and improve the understanding of rare hereditary diseases within the Palestinian population.

Dr. Essawi is recognized as one of the region’s leading young experts in the genetics and diagnosis of Osteogenesis Imperfecta and connective tissue disorders, contributing to regional and international research efforts focused on precision medicine and molecular diagnostics.