RESEARCH PROJECTS
1) Genetic basis of episodic disorders: migraine and ataxia
Episodic neurological diseases, such as ataxia and migraine, fit well into the paradygm of common, complex diseases  with rarer mendelian, monogenic forms. They have been classified as "channelopathies" on the basis of their molecular etiology. This term has been coined to designate those diseases caused by defects in ion channels, which include a wide variety of phenotypes, ranging from heart defects to diseases of the central nervous system. The identification of mutations in a subunit of one of these ion channels, CACNA1A, underlying migraine and ataxia in human and mouse, underscores the close relationship among these disorders at the molecular level. Our aim is to study the genetic basis of episodic neurological channelopathies, following positional cloning+sequencing of candidate genes and also exome/genome sequencing approaches in mendelian cases, and association studies (with candidate gene systems or using GWAS/ExomeChip approaches) in multifactorial forms of the disease. Functional studies of mutated ion channels are also being performed in cell lines, as well as trancriptomic analysis in animal models.
Staff
Dr. Bru Cormand
Postdocs
Dr. Claudio Toma
Dr. Noèlia Fernández
Predocs
Cèlia Sintas
Collaborators
Dr. Lluís Armengol (Centre de Regulació Genòmica, CRG, Barcelona)
Dr. Xavier Estivill (Centre de Regulació Genòmica, CRG, Barcelona)
Dr. José Manuel Fernández (Universitat Pompeu Fabra, Barcelona)
Dr. Alfons Macaya (Hospital Universitari Vall d'Hebron, Barcelona)
Dr. Bernat Narberhaus (Hospital Sant Joan de Déu, Manresa)
Dr. Manuel Oterino (Hospital Marqués de Valdecilla, Santander)
Dr. Julio Pascual (Hospital Marqués de Valdecilla, Santander)
Dr. Patricia Pozo (Hospital Universitari Vall d'Hebron, Barcelona)
Dr. Ma Jesús Sobrido (Fundación Galega de Medicina Xenómica, Galicia)
Dr. Miguel Valverde (Universitat Pompeu Fabra, Barcelona)
Dr. Víctor Volpini (Institut de Recerca Oncològica, IRO, Barcelona)
Dr. Jordi Serra (Parc Científic de Barcelona)
Dr. Cristina Quiles (Parc Científic de Barcelona)
Dr. Marta Ribasés (Hospital Universitari Vall d'Hebron)
Dr. Aarno Palotie (Sanger Institute, UK
2) Genetic predisposition to neuropsychiatric disorders: drug addictions and ADHD
Attention-deficit hyperactiviy disorder (ADHD), substance abuse and autism are neuropsychiatric disorders in which genetic factors playa n important role.  Our research focuses on the identification of genes involved in the development of ADH, dependence to cocaine or to other drugs and autism spectrum disorders, through family or population-based case-control association studies (candidate genes, gene systems, GWAS or ExomeChip) and by means of high-throughput sequencing of exomes or genomes. Additionaly, we are performing transcriptomic analysis of animal and celular models of some of these pathologies.
Staff
Dr. Bru Cormand
Postdocs
Dr. Claudio Toma
Dr. Noèlia Fernández
Predocs
Bàrbara Torrico
Collaborators
Dr. Mònica Bayés (Centre de Regulació Genòmica, Barcelona)
Dr. Xavier Estivill (Centre de Regulació Genòmica, Barcelona)
Dr. Miquel Casas (Servei de Psiquiatria, Hospital Vall d'Hebron)
Carlos Roncero (Servei de Psiquiatria, Hospital Vall d'Hebron)
Dr. Toni Ramos (Hospital Universitari Vall d'Hebron)
Dr. Rafael Maldonado (Universitat Pompeu Fabra, Barcelona)
Dr. Barbara Franke (Dept. Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands)
Dr. Steven V. Faraone (Depts. Psychiatry and Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York, USA)
Dr. Philip Asherson (MRC Social Genetic and Developmental Psychiatry, Institute of Psychiatry, Kings College London, UK)
Dr. Mauricio Arcos-Burgos (Dept. Psychiatry and Behavioral Sciences, University of Miami, USA)
Dr. Jan Haavik (Dept. Biomedicine, University of Bergen, Norway)
Dr. Andreas Reif (Dept. Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Germany)
Dr. Eric Mick (Massachusetts General Hospital, Boston, EUA)
Dr. Claiton Bau (Dept. of Genetics, Instituto de Biociencias, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil)
Dr. Christine Freitag (Dept. of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University, Frankfurt, Germany)
Dr. Montse Milà (Hospital Clínic, Barcelona)
Dr. Elena Maestrini (Dept. of Biology, University of Bologna, Italy)
3) Exome sequencing in the “Opitz C-trigonocephaly syndrome” (OCTS)
The Opitz C trigonocephaly syndrome (OCTS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies.  Several facts support an autosomal recessive inheritance: normal chromosomes in most patients, unaffected parents with multiaffected offspring, equal sex ratio of affected individuals, and consanguineous matings. However, dominant forms may also exist. Molecular alterations in the CD96 gene have been identified in a few cases, indicating the presence of genetic heterogeneity. We attempt to look for other Opitz C gene/s by exome sequencing of 10 unrelated patients. Exome sequencing is a new alternative to identify genes in monogenic disorders when there is no clue on the gene function and when large families are not available for linkage analysis. Targeted exome sequencing involves the capture and inspection of all protein-coding subsequences of the genome. Recent publications have demonstrated its utility in the identification of causative mutations for mendelian disorders.
Staff
Dr. Susana Balcells
Dr. Bru Cormand
Dr. Daniel Grinberg
Dr. Lluïsa Vilageliu
Postdocs
Dr. Roser Urreizti
Collaborators
Dr. John M Opitz (University of Utah School of Medicine, Salt Lake City, USA)
Dr. Giovanni Neri (Universitá Cattolica del Sacro Cuore, Roma, Italy)
Carles Godall (Associació Síndrome Opitz C)
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BRU CORMAND