06/11/2019 (09:00 - 14:00)

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

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

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III Joranda IRSJD fotoEl Institut de Recerca Sant Joan de Déu organiza la III Jornada de Debates IRSJD titulada "Neuroscience area · The multi OMICS day".

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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