strong>1) Genetic predisposition to psychiatric disorders: autism, substance use disor­ders and ADHD

Attention-deficit hyperactiviy disorder (ADHD), substance abuse and autism are neuro­psychiatric disorders in which genetic factors play an important role.

Our research focuses on the iden­tification of genes in­volved in the develop­ment of ADHD, 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, ExomeChip or PsychChip). 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. Noèlia Fernàndez
Dr. Roser Corominas
Dr. Judit Cabana
Dr. Marina Mitjans


Predocs
Laura Pineda
Anu Shivalikanjli
Ester Antón


Collaborators
Dr. Mònica Bayés (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. Marta Ribasés (Unitat de Psiquiatria Genètica, Institut de Recerca Vall d'Hebron, Barcelona)
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)
Dr. Amaia Hervás (Hospital Universitari Mútua de Terrassa)
Dr. Claudio Toma (Neuroscience Research Australia)
Dr. María Jesús Arranz (Hospital Universitari Mútua Terrassa)





2) 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 and epigenetic analyses in animal models.


Staff
Dr. Bru Cormand


Postdocs
Dr. Noèlia Fernàndez
Dr. Roser Corominas


Collaborators
Dr. Alfons Macaya (Hospital Universitari Vall d'Hebron, Barcelona)
Dr. Bernat Narberhaus (Hospital Sant Joan de Déu, Manresa)
Dr. Patricia Pozo (Hospital Universitari Vall d'Hebron, Barcelona)
Dr. Aarno Palotie (Sanger Institute, UK)