Advanced Therapies for Rare Liver Diseases

Gloria González-Aseguinolaza's laboratory, integrated in the Cancer Center Clínica Universidad de Navarra, focuses on the development of gene therapy vectors for rare metabolic diseases and aims to improve the efficacy and safety of gene therapy.

Rare metabolic diseases, which are often caused by genetic mutations, gene therapy holds great promise as a potential treatment option. However, there are several challenges that need to be addressed to optimize the effectiveness and safety of gene therapy. The goal of the lab is to improve the efficacy and safety of gene therapy through a deep understanding of the molecular mechanisms involved.

Dr. Gonzalez-Aseguinolaza's lab specializes in developing gene therapy vectors specifically tailored for these diseases. They design and engineer vectors, such as adeno-associated viruses (AAV), to efficiently deliver therapeutic genes to the target cells affected by the metabolic diseases. Simultaneously, the lab investigates the molecular mechanisms underlying the pathological changes associated with the disease and the cellular level. In parallel, the laboratory investigated the response to the gene therapy delivery vehicles that can be involved in the adverse events associated to vector injection and that jeopardized their therapeutic efficacy. By understanding these intricate processes, they identify key factors influencing therapy efficacy and safety. This knowledge guides the development of strategies to optimize therapeutic outcomes.

Furthermore, the lab explores innovative strategies by combining gene editing and gene therapy techniques. For instance, they investigate using gene editing to knock down or to integrate genes precisely into specific genomic sites, enhancing the stability and long-term therapeutic efficacy. This approach overcomes limitations associated with transient gene expression and potential loss of therapeutic effects over time.

Overall, the lab of Gloria Gonzalez-Aseguinolaza plays a crucial role in advancing the field of gene therapy for rare metabolic diseases. Their work encompasses the development of optimized gene therapy vectors, understanding molecular mechanisms, and utilizing gene editing approaches. Through these combined efforts, they strive to provide more effective and precise treatments for individuals suffering from these challenging conditions. AmonG the disease are, Wilson’s disease, inherited mitochondrial disorders or primary hiperoxalurias.