Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis
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- 1+MG Coordination GroupPublication . Kok, Ruben; Vicente, AstridThe “1+ Million Genomes” (1+MG) initiative is a cooperation mechanism involving by now 24 countries and was launched on Digital Day 2018. Countries meet on a regular basis in order to make sure that the aim of the 1+MG Declaration - to have at least 1 million sequenced genomes accessible in the EU by 2022 - is achieved. Genomics has the potential to revolutionise healthcare in many ways. It could lead to the development of more targeted personalised medicines, therapies and interventions. It could also enable better diagnostics, boost prevention and make more efficient use of scarce resources. From cancer, to rare diseases, neuro diseases and prevention, genomics can greatly improve health conditions of EU citizens. Equally important, genomics has the potential to improve the effectiveness, accessibility, sustainability and resilience of health systems in the European Union
- 1+Million Genomes Initiative /Beyond 1 Million Genomes CSA UpdatePublication . Vicente, AstridThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- 10 Dicas para incluir vegetais na alimentação da sua criançaPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para a diversificação alimentar do bebéPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para combater o inimigo Nº 1 da atividade física: o ecrãPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para fazer do seu filho um apreciador da alimentação saudávelPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 12 Dicas para o sucesso do aleitamento maternoPublication . Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel
- 1M Genomas Europeus: ganhos e desafiosPublication . Moura Vicente, AstridMedicina personalisada: A medicina personalizada é amplamente entendida como um modelo médico que utiliza a caracterização dos fenótipos e genótipos das pessoas (por exemplo, a caracterização molecular, a imagiologia médica, dados relativos ao estilo de vida) para ajustar a estratégia terapêutica a cada pessoa no momento certo, e/ou para determinar a predisposição a doenças e/ou para prestar cuidados preventivos atempados e devidamente direcionados. Conclusões do Conselho da União Europeia sobre a medicina personalizada para os doentes (2015/C 421/03)
- 2ª Reunião do Projeto europeu JA CHRODIS - 2015Publication . Costa, Luciana
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaPublication . Gilling, M.; Lauritsen, M.B.; Møller, M.; Henriksen, K.F.; Vicente, A.M.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P.S.; Mors, O.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R.M.; Lundsteen, C.; Ropers, H.H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.