In January 2026, we launched a new project funded by the Instituto de Salud Carlos III (ISCIII) entitled “A Holistic Study of Inherited Retinal Dystrophies Using Omics, Bioinformatics and AI Technologies for Molecular, Clinical and Demographic Characterisation.”
This coordinated project brings together research teams from the University of Vigo, Fundación Jiménez Díaz (Madrid), and La Fe University Hospital (Valencia), with the participation of Dr Ayuso and Dr Millán.
The contribution of the GXB group focuses on understanding the genetic and molecular mechanisms underlying Bardet-Biedl syndrome and Alström syndrome, two rare ciliopathies associated with inherited retinal dystrophies. We will investigate the role of mitochondrial dysfunction and autophagy in disease development and clinical variability, building on our previous findings and established cellular models.
Through this research, we aim to advance our understanding of these conditions and contribute to improved patient characterisation, stratification and future personalised therapeutic strategies.