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03.03.2015 12:17

GENyO Rare Disease Research

The Regional Minister for Equality, Health and Social Policy, María José Sánchez, has visited the Genomics and Oncology Research Centre (GENyO), where two new Spanish and European research projects are being undertaken to study the causes and behaviour of two rare diseases for which there is no known cure. GENyO is run by Pfizer, the University of Granada and the Autonomous Government of Andalusia and is located in the Granada Health Science Technological Park (PTS).


The Regional Minister of Health during her visit to GENyO.

The two diseases being studied are Aicardi–Goutières syndrome (AGS), a neurodegenerative disorder affecting newborns, and Bernard–Soulier syndrome (BSS), a disorder characterised by frequent bleeding. The research will be carried out by two groups, headed up by José Luis García Pérez and Pedro Real Luna, respectively.

The AGS study, by García-Pérez's group, is part of a European project, so the Spanish scientists will work together with colleagues from Germany, France and Belgium. A little over one million euros will be invested in the three-year project, run as part of the ERA-NET European research network's neurodegenerative disease programme (NEURON). The researchers will study the behaviour of the genes involved in AGS, a rare degenerative disease caused by inflammation of the brain. It normally develops in infants around four months of age and is irreversible in most cases.

Meanwhile, Real-Luna's research group will develop a cell model for BSS, a disease characterised by giant platelets and frequent bleeding, caused by a genetic mutation affecting the megakaryocytes, the blood-forming cells responsible for effective platelet production.

During her visit to GENyO, María José Sánchez said that Andalusia "is making a firm commitment to providing the community with the mechanisms required for quality scientific practice, in order to improve the quality of life and wellbeing of patients, especially those with rare diseases."