Recognition.

This study aims to strengthen the national biotechnology industry and advance gene therapy in Colombia by using precise genome editing techniques to correct genetic defects in patients with rare diseases.

The research evaluates the potential of CRISPR, a tool that can locate and repair specific sections of DNA, for treating these conditions. The work is a testament to Colombia's capacity for high-quality scientific innovation.

The result of five years of collaborative work, this project provides new hope and solutions for populations suffering from difficult-to-treat diseases, demonstrating that impactful scientific advances can be made locally.

This project addresses severe, rare genetic disorders like Tay-Sachs disease and Mucopolysaccharidosis IVA (MPS IVA), which currently have no effective treatments. These diseases are caused by single gene mutations, making gene therapy a promising avenue for a cure.

The research developed and tested a novel, safer gene-editing strategy using CRISPR/nCas9. This system was delivered into patient cells and mouse models using innovative, non-viral vectors made from iron-oxide nanoparticles (IONPs), overcoming key safety and cost challenges associated with traditional viral vectors.

The therapy proved highly successful. In vitro, it corrected the genetic defect in patient cells, restoring enzyme function and reducing cellular stress. In vivo, treating newborn mice with MPS IVA led to significant therapeutic effects, increasing enzyme activity in key tissues (including bone) and reducing disease markers without observable toxicity.

The work received an Honorable Mention for its 'pertinence and clinical relevance,' as it provides new knowledge and demonstrates for the first time the potential of CRISPR/nCas9 as a therapeutic approach for these devastating diseases, laying the foundation for future advances in gene therapy.