Human Molecular Genetics

Department of Genetics, Microbiology and Statistics

Faculty of Biology, UB

Daniel Grinberg
ORCID ID: 0000-0001-9859-2590
Tel +34 934035716

Susana Balcells
ORCID ID: 0000-0003-1211-1907
Tel +34 934035418

Bru Cormand
ORCID ID: 0000-0001-5318-4382
Tel +34 934021013

https://arwenbcn.wixsite.com/website

Full Professor: • Daniel Grinberg Vaisman
Professor Emeritus: • Lluïsa Vilageliu Arqués
Associate Professor: • Susana Balcells Comas • Bru Cormand Rifà
Lecturer: • Roser Corominas Castiñeiras • Marina Mitjans Niubó
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

Susana-Balcells
Daniel-Grinberg
Bru Cormand-02

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. The New England Journal of Medicine. 4: 376:1794-1795, 2017. doi.org/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.org/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. Scientific Reports. 7:44138, 2017. doi.org/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. Molecular Psychiatry. 19(7):784-90,2014. doi.org/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. Circulation Research. 124(1), 114-120, 2019. doi.org/10.1161/CIRCRESAHA.118.313533

Selected
Publications

[su_spoiler title="" open="no" style="default" icon="plus" anchor="" class="selected-publications-toggle"]

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.

 

[/su_spoiler] [su_spoiler title="" open="no" style="default" icon="plus" anchor="" class="selected-publications-toggle"]

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)

[/su_spoiler] [su_spoiler title="" open="no" style="default" icon="plus" anchor="" class="selected-publications-toggle"]

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.

[/su_spoiler] [su_spoiler title="" open="no" style="default" icon="plus" anchor="" class="selected-publications-toggle"]

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.

[/su_spoiler] [su_spoiler title="" open="no" style="default" icon="plus" anchor="" class="selected-publications-toggle"]

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.

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