Sensorineural Pathology

Rare diseases studied:

•          Retinal dystrophies.
•          Isolated or syndromic ocular malformations.
•          Albinism.
•          Hearing loss.

Objective:

To address rare diseases that affect sensory organs, particularly vision and/or hearing.

The strength of the Research Program (PdI) and one of its main objectives is the development of cellular and animal models of rare diseases, above all with a view to the coming period of leadership of preclinical research in sensorineural rare diseases.

Additionally, the Research Program focuses on translational efforts through the implementation of new diagnostic algorithms and therapeutic guidance and develops genomic diagnostic tools.

Scientific Coordinator: Marfany Nadal, Gemma

Full member groups constituting the Research Program:

1.        Ayuso García, Carmen – U704
2.        Marfany Nadal, Gemma – U718
3.        Moreno Pelayo, Miguel Ángel - U728
4.        Millán Salvador, José María - U755
5.        Montoliu José, Lluís - U756
6.        Varela Nieto, Isabel – U761