Programa 3 - FROM GENOTYPE TO PHENOTYPE

FROM GENOTYPE TO PHENOTYPE (Tronco Comum)
Semana 20 a 24/3/2017
13:30- 19:00
Coordinators: Isabel Marques Carreira
Joana B Melo
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20 de Março (2ªF)
Plenary session 1: From Genotype to Phenotype-review of concepts and technologies.
13:30 – Opening
13:45 - From Genotype to Phenotype - “Old” vs advanced new technologies – the OMICs world:
what and when should they be used?
Isabel M Carreira.
15:00- New technologies in genomic diagnosis and research.
Joana B Melo.
15:45 Current guidelines on these advanced technologies for diagnosis.
Isabel M Carreira.
16:15 – Coffee Break
Plenary session 2: From Genotype to Phenotype –The genetics of intellectual disability.
16:30 New insight in the genetics and genomics of intellectual disability.
Joana B Melo.
17:30 The change of the current paradigm: the role of genomics in decision making.
Isabel M Carreira.
18:30 – quick trivial pursuit from “Genotype-Phenotype”.
18:45 – Short Quiz.
21 de Março (3ªF)
Plenary session 3: From Genotype to Phenotype of monogenic disorders.
13.30 Molecular pathology – nomenclature, classification and effects of genetic variants
Sérgio Sousa.
14.30 Mechanism of disease. Pathways and families of monogenic disorders. Skeletal dysplasias as
an example.
Sérgio Sousa
15:30 Article presentation and discussion by students with Guest Speakers and Coordinators.
16:15 – Coffee Break
Plenary session 4: From Genotype to Phenotype Mechanisms of Imprinting
16:30 Imprinting disorders associated with molecular changes.
Jorge Saraiva
17:30 Article presentation and discussion by students with Guest Speakers and Coordinators.
18:45 – Short Quiz.
FROM GENOTYPE TO PHENOTYPE (Tronco Comum)
Semana 20 a 24/3/2017
13:30- 19:00
Coordinators: Isabel Marques Carreira and Joana B Melo
______________________________________________________________________________________________
22 de Março (4ªF)
Plenary session 5: From Genotype to Phenotype of late onset disorders: Example Machado Joseph
Disease.
14:00 Ancestral origins of the MJD mutational events: a worldwide haplotype study.
Jorge Sequeiros
15:00 Molecular Diagnosis of the ataxias
Isabel Alonso
16:00 - Article presentation and discussion by students with Guest Speakers and Coordinators.
16:30 – Coffee Break
17:00 Genetic Counselling of late onset diseases
Jorge Sequeiros
17:30 Translational Research in Machado Joseph.
Luis Almeida
18:15- Article presentation and discussion by students with Guest Speakers and Coordinators.
23 de Março (5ªF)
Hands On in the Cytogenetics and Genomics Laboratory – FMUC.
13:30 - Practical day with resolution of clinical cases using genomic tools.
Joana B Melo, Susana Ferreira, Miguel Pires.
17:00– 18:30 - Presentation and discussion of results.
Joana B Melo, Susana Ferreira, Miguel Pires, Isabel M Carreira.
24 de Março (6ªF)
Plenary session6: From Genotype to Phenotype – Challenges and Dilemmas
13:30 – “Big Data”: opportunities and dilemmas
Carolino Monteiro
14:30 – Screening versus Diagnosis. Analyse of benefits of the Portuguese newborn genetic
screening.
Heloisa Santos
15:30 – Coffee Break
16:00 Ethical, legal and social aspects of expanded carrier screening
Danya Vears
16:30 Ethical, legal and social aspects of research on human biological material.
Danya Vears
17:00- Article presentation and discussion by students with Guest Speakers and Coordinator.
FROM GENOTYPE TO PHENOTYPE (Tronco Comum)
Semana 20 a 24/3/2017
13:30- 19:00
Coordinators: Isabel Marques Carreira
Joana B Melo
FACULTY
Carolino Monteiro- Faculdade de Farmácia, Universidade de Lisboa
Danya Vears- Centre for Biomedical Ethics and Law, KU Leuven
Heloísa Santos – Serviço Genética Médica, Hospital Universitário S. Maria, Faculdade de Medicina da
Universidade de Lisboa
Isabel Alonso- Centro de Genética Preditiva e Preventiva, IBMC, Universidade do Porto
Isabel M Carreira – Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de
Coimbra.
Joana B Melo - Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de
Coimbra.
Jorge Saraiva –Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra.
Jorge Sequeiros - Centro de Genética Preditiva e Preventiva, IBMC, Universidade do Porto
Luís Miguel Pires- Laboratório de Citogenética e Genómica, Faculdade de Medicina da Universidade de
Coimbra.
Luís Almeida - Faculdade de Farmácia da Universidade de Coimbra.
Sérgio Sousa - Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra.
Susana Isabel Ferreira - Laboratório de Citogenética e Genómica, Faculdade de Medicina da
Universidade de Coimbra.