III Jornada de Debates IRSJD 2019. Neuroscience area · The multi OMICS day
El Institut de Recerca Sant Joan de Déu organiza la III Jornada de Debates IRSJD titulada "Neuroscience area · The multi OMICS day".
Se requiere inscripción previa.
9:00h - 9:15h. Welcome: Francesc Palau. IRSJD, Director
OMIC TOOLS
9:15h - 9:50h. The Genetic Architecture of Mitochondrial Disease: Exploration of 2000 cases
Invited speaker: Holger Prokisch, German Research Center for Environmental Health · Institute of Human Genetics
9:50h - 10:05h. NGS Experience in IRJSD · Judith Armstrong
10:05h - 10:20h. NGS and the Opitz C syndrome paradox · Susanna Balcells
10:20h - 10:35h. Targeted Metabolomic Analysis for New Gene Discovery (Colectrina) · Àngels Garcia-Cazorla
10:35h - 10:50h. Proteomic Analysis of the Matrisome: implications for Neuromuscular Diseases · Cecilia Jiménez-Mallebrera
10:50h - 11:05h. Psychological interventions in minority diseases · Laura González/Laia Molla
11:05h - 11:30h. Open discussion.
11:30h - 12:00h. Coffee break
EXPERIMENTAL TOOLS
12:00h - 12:15h. Translational Diagnostic Programme in children with undiagnosed and rare diseases: A model of clinical and functional genomic · Jordi Pijuan
12:15h - 12:30h. Targeted versus untargeted metabolomics · Rafael Artuch
12:30h - 12:45h. The electroencephalogram (EEG) as an endophenotype for neuropsychiatric and neurological disorder · Carles Escera
12:45h - 13:00h. Extraction of image biomarkers from experimental physiological data · Raul Benítez
13:00h - 13:15h. The use of Human Phenotype Ontology in the Share4Rare project · Alex Perera
13:15h - 13:45h. Closing discussion · Rafael Artuch/Cecilia Jiménez-Mallebrera