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Research groups

Human molecular genetics II

2017 provisional grinberg

Coordinator: Daniel Grinberg

The research of this group includes the study of complex genetic diseases. Studies are currently being made of association with various pathologies using gene markers and candidate loci in order to identify genetic risk factors and to determine the molecular basis of their contribution to pathology.

We investigate: Lysosomal Diseases,  Costello Syndrome, Retinitis pigmentosa, Homocystinurias, Multiple Osteochondromatosis, Osteoporosis, Migraines, Autism, Attention Deficit Hyperactivity Disorder, Opitz C Syndrome


Team

  • Researcher: Susana Balcells Comas, Bru Cormand Rifà, Lluïsa Vilageliu
  • Postdoc–associate researcher: Noelia Fernández Castillo, Bárbara Torrico Avilés, Roser Urreizti Frexedas,
  • PhD Student: Neus Roca Ayats, Noelia Benetó Gandia, Núria Martínez Gil, Judit Cabana Domínguez, Laura Pineda Cirera, Anu Shivalikanjli
  • Technicians: Mónica Cozar Morillo

Selected projects

  • Genetics and epigenetics of psychiatric disorders: Autism Spectrum Disorders, Attention-Deficit/Hyperactivity Disorder and Substance Use Disorders. Ministerio de Economia y Competitividad. PI: Bru Cormand Rifà. Jan 2016 – Dec 2018
  • 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. Ministerio de Economia y Competitividad. PI: Susana Balcells Comas. Jan 2016 – Dec 2019
  • Comorbid Conditions of Attention-Deficit Hyperactivity Disorder (CoCA). Unió Europea (H2020). PI: Bru Cormand Rifà. Jan 2016 – Dec 2020
  • Identificación de variantes, generación de modelos y ensayos terapéuticos en tres tipos de patologías genéticas: enfermedades lisosomales, osteoporosis y síndrome de Optiz C. Ministerio de Economia y Competitividad. PI: Daniel-Raul Grinberg Vaisman. Jan 2015 – Dec 2016

Selected publications in 2016

  • Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, et al. Exome chip analyses in adult attention deficit hyperactivity disorder. Transl Psychiatry 2016; 6(10):e923. FI: 5,538(Q1)
  • Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A, Cormand B. Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs. J Pain 2016. doi: 10.1016/j.jpain.2016.11.007 [Epub ahead of print]. FI: 4,463 (Q1)
  • Cabana-Domínguez J, Roncero C, Grau-López L, Rodríguez-Cintas L, Barral C, Abad AC, et al. A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence. Sci Rep 2016;6:31033. FI: 5,228 (Q1)
  • Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A 2016. 170A: 24-31. FI: 2,082(Q3)