III Jornada de Debats IRSJD 2019. Neuroscience area · The multi OMICS day

Auditori J. Plaza de l'Hospital Sant Joan de Déu Barcelona. Passeig Sant Joan de Déu 2, 08950 Esplugues de Llobregat

III Joranda IRSJD fotoL'Institut de Recerca Sant Joan de Déu organitza la III Jornada de Debats IRSJD titulada: "Neuroscience area · The multi OMICS day".

Descarrega el programa

9:00h - 9:15h. Welcome: Francesc Palau. IRSJD, Director


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


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

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