Genetics and Sensorineural Pathophysiology

2024 Activity indicators

8 competitive national public projects: ISCIII, MINECO/MICINN,CIBERER
3 private led projects
1 HR competitive contract
11 publications
IF: 41.10
Q1 publications: 6 (55%)
D1 publicacions: 2 (18%)
1 thesis
National institution scientific project evaluators: 5 researchers
Members of editorial committees: 2 PI
Several panels developed at IRYCIS for genetic diagnosis in use at HURYC
Gene therapy in hypoacusis study in progress (Decibel Therapeutics)
3 actions with an impact on society: conferences, courses and press releases
3 visitors hosted and 2.1 months stay:
- CIBER

Pharmacogenetics node of SERMAS to cover the hospitals of Alcorcón, El Escorial and Móstoles.
Vice-presidency of the Spanish Association of Human Genetics (Dr. Miguel Ángel Moreno).
Participation in the functional group on behalf of SERMAS in the UNICAS NETWORK for the care of children and adolescents with complex minority diseases.
Participation in the standardization group of the SiGenES project, which will allow greater interoperability of genomic data between centers and autonomous communities, positioning it as a key node in the development of precision medicine in the National Health System.
Concession as Co-PI of the CRINGENES project for neonatal genomic screening, which will expand and complement the current biochemical screening to include those diseases for which there are currently no biochemical detection markers, but for which there are already therapeutic options.