Human Molecular Genetics

Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona

Department of Genetics, Microbiology and Statistics
Faculty of Biology
University of Barcelona

Daniel Grinberg
Susana Balcells
Bru Cormand

http://www.ub.edu/genetica/humanaen/grup.htm

Full Professor: Daniel Grinberg Vaisman, Professor Emeritus: Lluïsa Vilageliu Arqués, Associate Professor: Susana Balcells Comas, • Bru Cormand Rifà, Lecturer: Roser Corominas Castiñeiras  Postdoc: Roser Urreizti Frexedas • Raquel Rabionet Janssen • Noelia Fernández Castillo • Bàrbara Torrico Avilés • Judit Cabana Domínguez  Technician: • Mónica Cozar Morillo  PhD student: Neus Roca Ayats • Núria Martínez Gil • Noelia Benetó Gandia • Laura Castilla Vallmanya • Laura Pineda Cirera  • Anu Shivalikanjli • Ester Antón Galindo

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Current
Research

Our group includes four senior scientists, responsible for the main research lines: Daniel Grinberg, Lluïsa Vilageliu, Susana Balcells and Bru Cormand, and several postdocs, with independent research subjects in some cases.

The aims of the group are the discovery of new genes and variants responsible for monogenic and complex diseases, the generation of new cellular and animal models and the development of novel therapeutic approaches.

The diseases studied include lysosomal storage disorders, osteoporosis and other bone diseases, Opitz C and related syndromes causing intellectual disability, and neuropsychiatric diseases. The specific diseases in each line are detailed below.

Lysosomal disorders: Sanfilippo, Niemann-Pick C and Gaucher diseases.

Bone diseases: osteoporosis, atypical femoral fractures and osteonecrosis of the jaw, the two latter are pathologic outcomes associated with bisphosphonate treatment. Monogenic bone diseases such as osteochondromatosis, osteogenesis imperfecta and Camurati-Engelman.

Opitz C and other intellectual disability syndromes: Opitz C, Bohring-Opitz, Schaaf-Yang, FOXP1, DPH1, TRIM28 and several other syndromes.

Neuropsychiatric disorders: autism spectrum disorders (ASD), attention-deficit/ hyperactivity disorder (ADHD), substance use disorders (SUD) and stroke.

The methodology used includes genome-wide association studies (GWAS), whole exome and whole genome sequencing (WES-WGS), RNAseq, luciferase reporter studies, 4C chromosome conformation capture, eQTL analysis, gene-editing by CRISPR/Cas9, generation of induced pluripotent stem (iPS) cells, and iPS-derived neurons and astrocytes.

The group participates in large international consortia to perform large GWAs and metaanalyses, studies genetic variants associated with disorders in the evolution of the human lineages, testing archaic introgression of ancient genomic segments into modern humans, and collaborates with pharmaceutical companies to assay new treatments for the diseases.

Selected
Publications

Roca-Ayats, N.; Balcells, S.; Garcia-Giralt, N.; Falcó-Mascaró, M.; Martínez-Gil, N.; Abril, J.F.; Urreizti, R.; Dopazo, J.; Quesada-Gómez, J.M.; Nogués, X.; Mellibovsky, L.; Prieto-Alhambra, D.; Dunford, J.E.; Javaid, M.K.; Russell, R.G.; Grinberg, D.; Díez-Pérez, A. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 4: 376:1794-1795, 2017. doi: 10.1056/NEJMc1612804.

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. Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem Cell Reports. 5:546-57, 2015. doi: 10.1016/j.stemcr.2015.08.016.

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.F.; Cormand, B.; Vilageliu, L.; Opitz, J.M.; Neri, G.; Grinberg, D.; Balcells, S. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci Rep. 7:44138, 2017. doi: 10.1038/srep44138.

Toma, C.; Torrico, B.; Hervás, A.; Valdés-Mas, R.; Tristán-Noguero, A.; Padillo, V.; Maristany, M.; Salgado, M.; Arenas, C.; Puente, X.S.; Bayés, M.; Cormand B. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry. 2014 Jul;19(7):784-90. doi: 10.1038/mp.2013.106.

Mola-Caminal, M.; Carrera, C.; Soriano-Tárraga, C.; Giralt-Steinhauer, E.; Díaz-Navarro, R. M.; Tur, S.; Jiménez, C.; Medina-Dols, A.; Cullell, N.; Torres-Aguila, N.P.; Muiño,  E.; Rodríguez-Campello,  A.; Ois, A.; Cuadrado-Godia,  E.; Vivanco-Hidalgo, R.M.; Hernandez-Guillamon, M.; Solé, M.; Delgado, P.; Bustamante, A.;  García-Berrocoso, T.; Mendióroz, M.; Castellanos, M.; Serena, J.; Martí-Fàbregas, J.; Segura, T.; Serrano-Heras, G.; Obach, V.; Ribó, M.; Molina, C.A.; Alvarez-Sabín, J.; Palomeras, E.; Freijo, M.; Font, M.A.; Rosand, J.; Rost, N.S.; Gallego-Fabrega, C.; Lee, J.-M.; Heitsch,  L.; Ibanez, L.; Cruchaga,  C.; Phuah, C.-L.; Lemmens,  R.; Thijs, V.; Lindgren, A.; Maguire, J.; Rannikmae, K.; Sudlow, C.L.; Jern, C.; Stanne,T.M.; Lorentzen, E.; Muñoz-Narbona, L.; Dávalos, A.; López-Cancio, E.; Worrall, B.B.; Woo, D.; Kittner, S.J.; Mitchell, B.D.; Montaner, J.; Roquer, J.; Krupinski, J.; Estivill, X.; Rabionet, R.; Vives-Bauzá, C.; Fernández-Cadenas, I.; Jiménez-Conde, J. PATJ low frequency variants are associated with worse ischemic stroke functional outcome: a genome-wide meta-analysis. Circ Res (in press)

Selected
Publications

Author

Identification

Roca-Ayats, N.; Balcells, S.; Garcia-Giralt, N.; Falcó-Mascaró, M.; Martínez-Gil, N.; Abril, J.F.; Urreizti, R.; Dopazo, J.; Quesada-Gómez, J.M.; Nogués, X.; Mellibovsky, L.; Prieto-Alhambra, D.; Dunford, J.E.; Javaid, M.K.; Russell, R.G.; Grinberg, D.; Díez-Pérez, A. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 4: 376:1794-1795, 2017. doi: 10.1056/NEJMc1612804.

 

Author

Identification

Mola-Caminal, M.; Carrera, C.; Soriano-Tárraga, C.; Giralt-Steinhauer, E.; Díaz-Navarro, R. M.; Tur, S.; Jiménez, C.; Medina-Dols, A.; Cullell, N.; Torres-Aguila, N.P.; Muiño,  E.; Rodríguez-Campello,  A.; Ois, A.; Cuadrado-Godia,  E.; Vivanco-Hidalgo, R.M.; Hernandez-Guillamon, M.; Solé, M.; Delgado, P.; Bustamante, A.;  García-Berrocoso, T.; Mendióroz, M.; Castellanos, M.; Serena, J.; Martí-Fàbregas, J.; Segura, T.; Serrano-Heras, G.; Obach, V.; Ribó, M.; Molina, C.A.; Alvarez-Sabín, J.; Palomeras, E.; Freijo, M.; Font, M.A.; Rosand, J.; Rost, N.S.; Gallego-Fabrega, C.; Lee, J.-M.; Heitsch,  L.; Ibanez, L.; Cruchaga,  C.; Phuah, C.-L.; Lemmens,  R.; Thijs, V.; Lindgren, A.; Maguire, J.; Rannikmae, K.; Sudlow, C.L.; Jern, C.; Stanne,T.M.; Lorentzen, E.; Muñoz-Narbona, L.; Dávalos, A.; López-Cancio, E.; Worrall, B.B.; Woo, D.; Kittner, S.J.; Mitchell, B.D.; Montaner, J.; Roquer, J.; Krupinski, J.; Estivill, X.; Rabionet, R.; Vives-Bauzá, C.; Fernández-Cadenas, I.; Jiménez-Conde, J. PATJ low frequency variants are associated with worse ischemic stroke functional outcome: a genome-wide meta-analysis. Circ Res (in press)

Author

Identification

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. Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem Cell Reports. 5:546-57, 2015. doi: 10.1016/j.stemcr.2015.08.016.

Author

Identification

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.F.; Cormand, B.; Vilageliu, L.; Opitz, J.M.; Neri, G.; Grinberg, D.; Balcells, S. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci Rep. 7:44138, 2017. doi: 10.1038/srep44138.

Author

Identification

Toma, C.; Torrico, B.; Hervás, A.; Valdés-Mas, R.; Tristán-Noguero, A.; Padillo, V.; Maristany, M.; Salgado, M.; Arenas, C.; Puente, X.S.; Bayés, M.; Cormand B. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry. 2014 Jul;19(7):784-90. doi: 10.1038/mp.2013.106.