Joint Unit CIPF-UPV Developmental Biology and Disease Models

The group is part of the UPV-CIPF Joint Unit, established in 2016 to promote scientific collaborations between researchers in both institutions in the fields of pathophysiology and nanomedicine. We use Drosophila melanogaster to study the basic biological mechanisms underlying development and disease.

We are using Drosophila to generate models to study rare diseases, with an especial interest in inherited peripheral neuropathies and in Dravet syndrome and othe rare epileptic encephalopathies.. Our ultimate goals are to understand the disease mechanisms involved and to generate new tools for biomarker and drug discovery. To achieve these goals, we have a network of collaborators that include groups working in Drosophila genetics, physiology and rare diseases; and we are also starting collaborations with clinical groups and patient associations.

We are using genome editing techniques with the aim to develop new disease mechanisms that can be used in the discovery of new biomarkers and treatments for rare diseases. The goal is to replace the Drosophila gene with the equivalent human gene carrying clinical mutations found in patients. This way we can develop strategies in personalized and precision medicine.