Daniel-Raul Grinberg Vaisman

Daniel-Raul Grinberg Vaisman

Emerit teacher

ORCID: 0000-0001-9859-2590
Researcher ID: F-3641-2010
Knowledge area: Genètica

Member del Editorial Board de Scientific Reports (2016-2020)
Member of the Scientific Programme Committee of the European Society of Human Genetics (2012-2016)
Head of the Department of Genetics, Faculty of Biology, University of Barcelona (2008-2012)

Research group: Human Molecular Genetics

Contact Information
Department of Genetics, Microbiology and Statistics
Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona. Av. Diagonal, 643.
934035716
dgrinberg(a)ub.edu

Teaching

Molecular genetics (Undergraduate) Genetic diseases (Undergraduate) Mendelian and complex genetic diseases (Master) Human genome (Master)

Academic Training

Biología . Universitat de Barcelona . 06/1981 . (Diploma / Degree / Activities)
Grado . Universitat de Barcelona . 10/1982 . (Diploma / Degree / Activities)
Biología . Universitat de Barcelona . 11/1986 . (Ph.D.)

Research interests

Generation of neuronal models for Sanfilippo Syndrome using iPS cells and genomic edition by the CRISPR/Cas9 system
Generation of a mouse model for a deep intronic mutation in the NPC1 gene (responsible for Niemann-Pick C disease) and assays of therapeutic approaches
Study of the genetic bases of osteoporosis
Study of the genetic bases of the atypical femoral fracture
Study of the genetic bases of intellectual disability syndromes: Opitz C, Schaaf-Yang, TRAF7, TRIM28

Projects

Genètica Molecular Humana . 2014 - 2017 . Ref.2014SGR932 . Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR) . PI: Daniel-Raul Grinberg Vaisman
Búsqueda del gen responsable del síndrome de Opitz C . 2015 - 2015 . Ref.308219 . Fundación Española para la Ciencia y la Tecnologia . PI: Daniel-Raul Grinberg Vaisman; Susana Balcells Comas
Generation and characterization of mouse models of Niemann-Pick C (NPC) disease and assay of different therapeutic approaches . 2015 - 2017 . Ref.308204 . The Hide and Seek Foundation . PI: Daniel-Raul Grinberg Vaisman; M.Lluisa Vilageliu Arques
IDENTIFICACION DE VARIANTES, GENERACION DE MODELOS Y ENSAYOS TERAPEUTICOS EN TRES TIPOS DE PATOLOGIAS GENETICAS: ENFERMEDADES LISOSOMALES, OSTEOPOROSIS Y SINDROME DE OPITZ C . 2015 - 2016 . Ref.SAF2014-56562-R . Ministerio de Economia y Competitividad . PI: Daniel-Raul Grinberg Vaisman
Sinergias en el estudio genético y la búsqueda de terapias para el síndrome de Opitz C, la fractura femoral atípica, la osteoporosis y enfermedades lisosomales . 2016 - 2020 . Ref.SAF2016-75948-R . Ministerio de Economia y Competitividad . PI: Susanna Balcells Comas; Daniel-Raul Grinberg Vaisman

Journal Publications

Zheng, H.F.; Forgetta, V.; Hsu, Y.H.; Estrada, K.; Rosello-Diez, A.; Leo, P.J.; Dahia, C.L.; Park-Min, K.H.; Tobias, J.H.; Kooperberg, C.; Kleinman, A.; Styrkarsdottir, U.; Liu, C.T.; Uggla, C.; Evans, D.S.; Nielson, C.M.; Walter, K.; Pettersson-Kymmer. U.; McCarthy, S.; Eriksson. J.; Kwan, T.; Jhamai, M.; Trajanoska, K.; Memari. Y.; Min, J.; Huang, J.; Danecek, P.; Wilmot, B.; Li, R.; Chou, W.C.; Mokry, L.E.; Moayyeri, A.; Claussnitzer, M.; Cheng, C.H.; Cheung, W.; Medina-Gómez, C.; Ge, B.; Chen, S.H.; Choi, K.; Oei, L.; Fraser, J.; Kraaij, R.; Hibbs, M.A.; Gregson, C.L.; Paquette, D.; Hofman, A.; Wibom, C.; Tranah, G.J.; Marshall, M.; Gardiner, B.B.; Cremin, K.; Auer, P.; Hsu, L.; Ring, S.; Tung, J.Y.; Thorleifsson, G.; Enneman, A.W.; van Schoor, N.M.; de Groot, L.C.; van der Velde, N.; Melin, B.; Kemp, J.P.; Christiansen, C.; Sayers, A.; Zhou, Y.; Calderari, S.; van Rooij, J.; Carlson, C.; Peters, U.; Berlivet, S.; Dostie, J.; Uitterlinden, A.G.; Williams, S.R.; Farber, C.; Grinberg, D.; LaCroix, A.Z.; Haessler, J.; Chasman, D.I.; Giulianini, F.; Rose, L.M.; Ridker, P.M.; Eisman, J.A.; Nguyen, T.V.; Center, J.R.; Nogues, X.; Garcia-Giralt, N.; Launer, L.L.; Gudnason, V.; Mellström, D.; Vandenput, L.; Amin, N.; van Duijn, C.M.; Karlsson, M.K.; Ljunggren, Ö.; Svensson. O.; Hallmans, G.; Rousseau, F.; Giroux, S.; Bussière, J.; Arp, P.P.; Koromani, F.; Prince, R.L.; Lewis, J.R.; Langdahl, B.L.; Pernille Hermann, A.; Jensen, J.B.; Kaptoge, S.; Khaw, K.T.; Reeve, J.; Formosa, M.M.; Xuereb-Anastasi, A.; Åkesson, K.; McGuigan, F.E.; Garg, G.; Olmos, J.M.; Zarrabeitia, M.T.; Riancho, J.A.; Ralston, S.H.; Alonso, N.; Jiang, X.; Goltzman, D.; Pastinen, T.; Grundberg, E.; Gauguier, D.; Orwoll, E.S.; Karasik, D.; Davey-Smith, G.; AOGC Consortium; Smith, A.V.; Siggeirsdottir, K.; Harris, T.B.; Carola Zillikens, M.; van Meurs, J.B.; Thorsteinsdottir, U.; Maurano, M.T.; Timpson, N.J.; Soranzo, N.; Durbin, R.; Wilson, S.G.; Ntzani, E.E.; Brown, M.A.; Stefansson, K.; Hinds, D.A.; Spector, T.; Adrienne Cupples, L.; Ohlsson, C.; Greenwood, C.M.; UK10K Consortium; Jackson, R.D.; Rowe, D.W.; Loomis, C.A.; Evans, D.M.; Ackert-Bicknell, C.L.; Joyner, A.L.; Duncan, E.L.; Kiel, D.P.; Rivadeneira, F.; Richards, J.B. (2015). Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526(7571), pp. 112 - 117 . Institutional Repository . ISSN: 0028-0836
Canals, I.; Soriano, J.; Orlandi, J.G.; Torrent, R.; Richaud-Patin, Y.; Jiménez-Delgado, S.; Merlin, S.; Follenzi, A.; Consiglio, A.; Vilageliu. L.; Grinberg, D.; Raya, A. (2015). Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks. Stem Cell Reports, 5(4), pp. 546 - 557 . Institutional Repository . ISSN: 2213-6711
Gómez-Grau, Marta; Albaigès, Júlia; Casas, Josefina; Auladell, Carme; Dierssen, Mara; Vilageliu, Lluïsa; Grinberg, Daniel (2017). New murine Niemann-Pick type C models bearing a pseudoexongenerating mutation recapitulate the main neurobehavioural and molecular features of the disease. Scientific Reports, 7(41931) . Institutional Repository . ISSN: 2045-2322
Urreizti, R.; Cueto-Gonzalez, A.M.; Franco-Valls, H.; Mort-Farre, S.; Roca-Ayats, N.; Ponomarenko, J.; Cozzuto, L.; Company, C.; Bosio, M.; Ossowski, S.; Montfort, M.; Hecht, J.; Tizzano, E.; Cormand, B.; Vilageliu, L.; Opitz, J.M.; Neri, G.; Grinberg, D.; Balcells, S. (2017). A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes. Scientific Reports, 7(44138) . Institutional Repository . ISSN: 2045-2322
Roca-Ayats, Neus; Balcells, Susana; Garcia-Giralt, Natalia; Falco-Mascaro, Maite; Martinez-Gil, Nuria; Abril, Josep F.; Urreizti, Roser; Dopazo, Joaquin; Quesada-Gomez, Jose M.; Nogues, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg, Daniel; Diez-Perez, Adolfo (2017). GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. New England Journal of Medicine, 376(18), pp. 1794 - 1795 . Institutional Repository . ISSN: 0028-4793
Urreizti, R.; Damanti, S.; Esteve, C.; Franco-Valls, H.; Castilla, L.; Tonda, R.; Cormand, B.; Vilageliu, L.; Opitz, J.M.; Neri, G.; Grinberg, D.; Balcells, S. (2018). A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome. Scientific Reports, 8, pp. 694-1 - 694-6 . Institutional Repository . ISSN: 2045-2322
Martínez-Gil, N.; Roca-Ayats, N.; Monistrol-Mula, A.; Garcia-Giralt, N.; Díez-Pérez, A.; Nogúes, X.; Mellibovsky, L.; Grinberg, D.; Balcells, S. (2018). Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density. Scientific Reports, 8(10951) . Institutional Repository . ISSN: 2045-2322
Roca-Ayats, N.; Ng, P.; Garcia-Giralt, N.; Falco-Mascaro, M.; Cozar, M.; Abril, J.F.; Quesada-Gomez, J.M.; Prieto-Alhambra, D:; Nogues, X.; Dunford, J.E.; Russell, R.G.; Baron, R.; Grinberg, D.; Balcells, S.; Diez-Perez, A. (2018). Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types. Journal of Bone and Mineral Research, 33(12), pp. 2091 - 2098 . https://doi.org/10.1002/jbmr.3580 . ISSN: 0884-0431
Urreizti, R.; Mayer, K.; Evrony, G.; Said, E.; Castilla-Vallmanya, L.; Cody, N.; Plasencia, G.; Gelb, B.; Grinberg, D.; Brinkmann, U.; Webb, B.; Balcells, S. (2020). DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics, 28(1), pp. 64 - 75 . Institutional Repository . ISSN: 1018-4813
Benetó, N.; Cozar, M.; Castilla-Vallmanya, L.; Zetterdahl, O.G.; Sacultanu, M.; Segur-Bailach, E.; García-Morant, M.; RIbes, A.; Ahlenius, H.; Grinberg, D.; Vilageliu, L.; Canals, I. (2020). Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development. Journal of Clinical Medicine, 9(644) . Institutional Repository . ISSN: 2077-0383