Development of zebrafish models of GRINpathies, phenotyping and drug screening

The project aims to create and characterize genetic models of GRIN gene loss-of-function associated to GRD, a rare disease defined as a neurodevelopmental encephalopathy.

Start – End dates: 07/01/20 – 06/01/24

Project reference: Doctorados Industriales 2018 (DIN2018-010024)

Total budget: 110,000€

Financed by: State Research Agency under the Ministry of Science, Innovation and Universities, Spain

Financed by MICIU/AEI/10.13039/501100011033.

Partners: Universitat Pompeu Fabra (UPF) & Bellvitge Biomedical Research Institute (IDIBELL), Barcelona

universitat pompeu fabra and idibell


The main objective of this project is to generate and characterize genetic models of loss-of-function of the main GRIN genes related to the GRD, a rare disease defined as a neurodevelopmental encephalopathy. GRD patients can have a wide spectrum of symptoms, including motor defects, visual impairment, ASD, epilepsy and gastrointestinal alterations among others. With the ZeGRIN models, we aim to better understand the pathophysiology of the disease but, importantly, to screen and define multiple potential pharmacological therapies to improve GRD symptoms and, therefore, patient’s quality of life. Overall, the zebrafish as a model offers a powerful platform for studying rare diseases, providing insights into disease mechanisms, identifying potential therapeutic targets, and facilitating the development of novel treatment strategies in a cost-effective and efficient manner.