Scientific Program. Thursday, November 16
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1 Page 1 of 5 Hotel ALDEIA DOS CAPUCHOS, GOLF & SPA, Largo Aldeia dos Capuchos, Caparica, 9:30 Registration Opening Thursday, November 16 10:00 Cytogenetics and Molecular Genetics Club Hildeberto Correia Patrícia Theisen Catarina Silva [Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), Lisboa, ] Medical Genetics and Clinical Dysmorphology Club Patrícia Dias Catarina Machado André Travessa Mariana Sá [Serviço de Genética Médica, Centro Hospitalar Lisboa Norte (CHLN), Hospital de Santa Maria (HSM), Lisboa, ] 14:00 Opening and Welcome Direção da SPGH Conselho Diretivo do INSA 14:15 Personalized Medicine for Cystic Fibrosis Margarida Amaral, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Chair: João Lavinha 15:00 DYNAMICS OF GENOME ARCHITECTURE Chairs: Joana Barbosa de Melo; Sérgio Bernardo Sousa 15:00 Interpretation of Structural Variations in a Regulatory Context Stefan Mundlos, Max Planck Institute for Molecular Genetics, Berlin, Germany 15:30 Spectrum of Structural Genomic Abnormalities in Subjects Carrying Putative Disease-Associated Chromosome Rearrangements and their Pathogenic Implications Dezso David, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, 16:00 Chromatin Reorganization Events in Endothelial Cells Associated with Pulmonary Arterial Hypertension
2 Page 2 of 5 Armando Reyes Palomares, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany 16:30 Coffee Break / Poster Viewing 17:00 Selected Oral Communications I (6) (8+2 min communication) Chairs: Susana Fernandes; Sofia Dória 18:00 Genetic Counselling and Personalized Medicine in Rare Disorders Corporate Panel Discussion (Shire) Moderator: Maria do Céu Machado, Presidente do Infarmed, Lisboa, Fabry disease: phenotypic heterogeneity and therapeutic implications Patrício Aguiar, Centro de Referência em Doenças Metabólicas, CHLH-HSM, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Fabry's disease: issues in genetic counseling Oana Moldovan, Serviço de Genética Médica, CHLN-HSM, Lisboa, Genetic Counselling: the psychological dimensions in the individual and family. A reflection from the clinic. Alexandra Leonardo, Serviço de Genética Médica, CHLN-HSM, Lisboa, 18:45 SPGH Assembly
3 Page 3 of 5 Hotel ALDEIA DOS CAPUCHOS, GOLF & SPA, Largo Aldeia dos Capuchos, Caparica, Friday, November 17 8:45 Selected Oral Communications II (6) Chairs: Carla Oliveira; João Fernando Silva 9:45 Nusinersen (Spinraza TM ): The First FDA/EMA-Approved Treatment for SMA Adrian Krainer, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA Chair: Luísa Romão 10:30 Coffee Break / Poster Viewing 11:00 11:00 CANCER GENETICS Chairs: Paulo Matos; Peter Jordan Networks of Alternative Splicing Regulation in Cancer Juan Valcarcel, Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain 11:30 RNA Binding Proteins in Cancer Progression Fatima Gebauer, Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain 12:00 Selected Clinical Cases I (6) Chairs: Lina Ramos; Isabel Cordeiro 13:00 Lunch 14:15 14:15 TOWARDS PERSONALIZED MEDICINE IN ONCOLOGY Chairs: Manuel Teixeira; Juliette Dupont Classification of Mutations in the Exonuclease Domain of POLE Claire Palles, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK 14:45 Targeting Cancers using Individual Systems Medicine Krister Wennerberg, Institute for Molecular Medicine Finland, Nordic EMBL Partnership for Molecular Medicine, University of Helsinki, Helsinki, Finland
4 Page 4 of 5 15:15 15:15 MECHANISM-GUIDED THERAPIES FOR GENETIC DISORDERS Chairs: Ana Sousa; Glória Isidro Translational Medicine in Familial Hypercholesterolemia from Phenotype to Genotype to Treatment Mafalda Bourbon, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, 15:45 Development of RNA Based Approaches to Exploit Alternative Therapies for Lysosomal Storage Diseases Sandra Alves, Instituto Nacional de Saúde Doutor Ricardo Jorge, Porto, 16:15 Coffee Break / Poster Viewing 16:45 Genetic Counselling and Personalized Medicine in Cancer Corporate Panel Discussion (Astrazeneca) Moderator: Ana Berta Sousa, Serviço de Genética Médica, CHLN-HSM, Lisboa, (to be completed) 17:30 Panel Discussion Personalized Medicine Moderator: Astrid Vicente, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, (to be completed) 18:15 Corporate Symposium (Soquímica) 19:00 City Tour 21:00 Conference Dinner
5 Page 5 of 5 Hotel ALDEIA DOS CAPUCHOS, GOLF & SPA, Largo Aldeia dos Capuchos, Caparica, Saturday, November 18 9:00 Selected Clinical Cases II (6) Chairs: Rosário Pinto Leite; Ana Medeira 10:00 Bioethics Debate Medicina Personalizada na Era Genómica Personalized Medicine in the Era of Genomics Moderador: Heloísa Santos, Presidente Comissão Bioética SPGH, Lisboa, Considerações Éticas e Científicas da Medicina Personalizada Scientific and Ethical Issues in Personalized Medicine Célia Ventura, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, A medicina Personalizada Face à Legislação Portuguesa Portuguese Legal Issues in Personalized Medicine André Pereira, Faculdade de Direito da Universidade de Coimbra, Coimbra, 11:00 Coffee Break / Poster Viewing 11:30 Genome Editing with Programmable Nucleases Dana Carroll, University of Utah School of Medicine, Salt Lake City, UT, USA Chair: Rosário Santos 12:15 Basic and Clinical Research Awards Ceremony 12:25 SPGH Award Conference 12:55 Closing Session Conselho Diretivo do INSA Direção da SPGH
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