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 systemGeneration of a mouse model for a deep intronic mutation in the NPC1 gene (responsible for Niemann-Pick C disease) and assays of therapeutic approachesStudy of the genetic bases of osteoporosisStudy of the genetic bases of the atypical femoral fractureStudy 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 VaismanBúsqueda 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 ComasGeneration 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 ArquesIDENTIFICACION 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 VaismanSinergias 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: 0028-0836Canals, 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: 2213-6711Gómez-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: 2045-2322Urreizti, 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: 2045-2322Roca-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: 0028-4793Urreizti, 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: 2045-2322Martínez-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: 2045-2322Roca-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: 0884-0431Urreizti, 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: 1018-4813Benetó, 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