The Rare Disease Research and Therapeutics Development Group published in the journal "Molecular Genetics & Genomic Medicine" a paper entitled "Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model".

In this study, researchers explored how a small molecule called phenylbutyrate (4-PBA) could reduce cell stress and prevent cell death in a rare condition called glycogen storage disease Ib (GSD Ib). The research was carried out on a cell model containing a mutation of the transporter for the glucose-6-phosphate molecule, which was developed by the method of genome editing using CRISPR/Cas9 technology. It was found that in this model 4-PBA successfully lowers stress markers and improves cell survival, which indicates its therapeutic potential for treating the symptoms of GSD Ib. This new cell model could also be used to rapidly test the effect of other small molecules in order to find new therapeutic approaches to alleviate the symptoms of this disease.

This research is part of the dissertation of Marina Parezanović, who is doing her PhD in IMGGE under the mentorship of Dr. Anita Skakić.