I started my PhD project in the field of Genetics after finishing my studies in Biology at the University of Barcelona. After my PhD, I studied the contribution of Ubiquitin and Sumo signaling to the determination of photoreceptor cell fate. In October 2012, I moved to the Netherlands as a postdoc in the Blindness Genetic Therapy group at the Department of Human Genetics of the Radboudumc. During this time I contributed to the development of novel therapeutic interventions for inherited retinal disorders based on antisense technology for CEP290 and ABCA4 retinal conditions. In 2017, I entered the tenure-track program which led to an Assistant Professor tenured position in 2021.Since2023, I am an Associate Professor and my research focuses on the development of molecular therapies, mainly on antisense technology, for these diseases. I share group with Prof. Collin and our group is embedded within the Departments of Pediatrics and Human Genetics and it is closely connected to the Translational Metabolic Laboratory and the Department of Ophthalmology of the Radboudumc, facilitating a close contact between clinicians, researchers and patients. During the last years, our group has extensively worked on personalized medicine by developing mutation-specific RNA-based strategies to treat disease. Besides designing new therapeutic strategies, another important aspect of our research is to find reliable and suitable models to identify molecular mechanisms of disease and test potential new drugs. For that reason, we are actively working on the development of patient-derived cellular models and potential read-outs to not only elucidate the pathophysiological mechanisms and identify therapeutic targets, but also test the efficacy, safety, (bio)distribution and longevity of therapeutic molecules.The group is well connected to several European consortia, such as CHARLIE (CHAnging Rare disorders of LysInE metabolism), ERTC (European Retinal Therapeutics Consortium) and the recently terminated DARTER (Delivery of Antisense RNA ThERapeutics) European Action as well as the national hDMT organ-on-chip network or Dutch Center for RNA Therapeutics.
- Research Group Leader at the Radboudumc
- Co-founder and Board member of the Dutch Antisense Therapeutics Society that organizes the annual Dutch Antisense Therapeutics Symposium (www.dutchantisense.org)
- Member of the Oligonucleotide Therapeutics Society
- Member of the Netherlands Society for Gene and Cell Therapy (NVGCT)
- Member of the European Society for Gene and Cell Therapy (ESGCT)
- Member of the Association for Research in Vision and Ophthalmology (ARVO)
- Vice-chair of the hDMT Eye-on-Chip working group