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Diapositivo 1
19ª REUNIÃO ANUAL da SOCIEDADE PORTUGUESA de GENÉTICA HUMANA PORTO 5 - 7 NOVEMBRO 2015 ORDEM DOS MÉDICOS TEMAS Genetic variant databases: their present and future roles in Human Genetics Advances in diagnosis and treatment of Duchenne muscular dystrophy Personal genomics, horoscopes and forensic genetics Pre-clinical studies for the development of pharmacological treatment in hereditary amyloidosis aCGH in PND: data, decisions and dilemmas NIPT workflow implementation and technology considerations Face2Gene: facial dysmorphology automated analysis in clinical genetics From genes to genomes in Medical Genetics: new possibilities and new challenges News in diagnosis and treatment of Lysosomal Storage Disorders (LSD) Cancer Immunotherapy and Tumor Escape The changing landscape in BRCA1/2 testing for ovarian cancer predisposition and treatment: is tumor testing first the new standard practice? De novo mutations in Intellectual Disability Bioethical evaluation of the new reproductive techniques for mitochondrial disorders prevention Adress of the ESHG President ORADORES António Amorim (Porto, IPATIMUP) Célia Ventura (Lisboa, INSA) Feliciano Ramos-Fuentes - President, ESHG (Zaragoza, ES, H. Clínico Universitario) Francesco Fiorentino (Roma, IT, GenomaLaboratory) Haaken Norell (Lisboa, IMM) Heloísa G. Santos (Lisboa, President of SPGH Ethics Committee) Isabel Santana (Coimbra, CHUC) Jorge Oliveira (Porto, CGMJM/CHP) Joris Veltman (Nijmegen, NL, RadboudUMC) Kevin Flanigan (Columbus, USA, Nationwide Children’s Hospital) Maria João Saraiva (Porto, IBMC) Nicole Fleischer (NYC, USA, FDNA) Nicoline Hoogerbrugge (Nijmegen, NL, RadboudUMC) Paula Garcia (Coimbra, CHUC) Paula Rendeiro (Porto, CGC Genetics) INFORMAÇÃO www.spgh.net [email protected] DEADLINES: Abstract Submission: October 12 Reduced Price Registration: October 26
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