Daniel Raúl Grinberg Vaisman
Jefe de Grupo Senior
Lysosomal diseases, bone diseases, intellectual disability
The researcher Daniel Grinberg graduated in Biology in 1981 from the University of Barcelona and obtained his PhD in Genetics from the University of Barcelona in 1986.
Between 1987 and 1990, he undertook a postdoctoral stay at the Imperial Cancer Reserch Fund in London where he studied the transcriptional regulation mechanisms of the int-2 gene responsible for the mouse breast tumor.
Since 1990 he has been a professor at the University of Barcelona as a professor until 2008 and as a cathedratic professor from 2008 until today. He was Director of the Department of Genetics at the University of Barcelona from 2008 to 2012 and member of the Scientific Program Committee of the European Society of Human Genetics from 2012 to 2016.
He is currently leading the research group on Human Molecular Genetics, a group recognized as a quality group by the Generalitat de Catalunya (2017 SGR 738), and a group from the CIBERER, the IBUB and the IRSJD, where he studies the genetic and molecular bases of monogenic diseases and complexes, the generation of models and new therapeutic strategies.
- Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. JOURNAL OF MEDICAL GENETICS . 60(4): 406-415.
- López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J A crowdsourcing database for the copy-number variation of the Spanish population. HUMAN GENOMICS . 17(1): 20-20.
- Martinez-Gil N, Patino-Salazar JD, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era Revista de Osteoporosis y Metabolismo Mineral . 15(1): 29-39.
- Project name:
- Incorporació de R. Rabionet al projecte d'anàlisi d'exomes en síndrome d'Opitz i Fractura atípica. Beneficiari: Raquel Rabionet
- Daniel Raúl Grinberg Vaisman
- Funding entities:
- Departament de Salut - Generalitat de Catalunya
- Starting - finishing date:
- 2017 - 2019
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.