Functional Genomics and Precision Medicine for Neurological Disorders

What makes a brain sick? What are the molecular consequences of disease-causing mutations? What is the aftermath on neuronal circuits and brain activity? How could these findings bring novel insights to identify further therapeutic strategies? Working in close collaboration with clinicians and geneticists, my research interests seek answers to these questions and focus on making sense of genetic mutations associated with neurological diseases. Our research program takes advantage of zebrafish as a powerful model to perform functional genomics and has two main interests:

1. UNRAVELLING NOVEL PATHOGENIC MECHANISMS OF NEUROLOGICAL DISORDERS:
   Employing the latest targeted mutagenesis approaches (CRISPR/CAS9) in order to model clinically-relevant genetic conditions in vivo, we seek at unravelling novel, yet undiscovered, aspects of pathologies such as epilepsy, neurometabolic disorders and undiagnosed neurological diseases.
2. DEVELOPING PRECISION MEDICINE IN EPILEPSY:
   Taking advantage of our zebrafish avatars, we investigate what influences treatment-responsiveness in regards to the different genetic backgrounds causing epilepsy and we propose to perform precision medicine to tailor the anti-epileptic. We are also interested in identifying new molecules with antiepileptic properties Our studies are instrumental to understand the underlying causes of the disease, and to identify novel pathways that can be further targeted for therapeutic discovery and development. Using zebrafish, our lab offers an innovative translational output that can directly impact the quality of life of patients.