FIGON DMD

Manoe Janssen

Assistant Professor, Utrecht University

Dr. Manoe Janssen is assistant professor in the field of molecular biology and genetic disease research at the Department of Pharmaceutical Sciences at Utrecht University. She earned her Ph.D. from Radboudumc Department of Gastroenterology and Hepatology, where she dissected the molecular mechanisms of polycystic liver disease. Her current research has a strong focus on genetic kidney diseases and lysosomal storage diseases, alongside the application of CRISPR/Cas9 gene editing for disease modelling. She has used advanced in vitro models to study disease mechanisms and identify drug targets and screen for drugs that can revert a disease phenotype. For this she also works with organ-on-chip technologies and iPSC-derived kidney organoids. In addition, Manoe Janssen is known for her active involvement in scientific communities and as a Board Member of the Dutch Society of Pharmacology.

Presentation: From Drug Repurposing to Gene Repair: Advancing Cystinosis Therapy

Cystinosis, a rare genetic kidney disorder, presents significant therapeutic challenges. Our journey commences with the development of isogenic kidney models, the identification of drug targets, and the testing of existing drug compounds for potential repurposing. Through this process, we have identified bicalutamide, a known compound, as a promising candidate for alleviating cystinosis symptoms. However, recognizing the need for a more comprehensive solution, we have transitioned to a gene repair approach. Utilizing CRISPR HITI, a precision gene editing technique, we have successfully targeted and corrected the genetic mutations underlying cystinosis in vitro. In this presentation, we delve into the challenges and opportunities presented by precision medicine for cystinosis and its potential for shaping the development of a new therapy in the future.