New high-throughput technologies of post genome era: benefits and ethical issues

Autores

  • Anita Q. Gomes Departamento das Ciências Naturais e Exatas, Escola Superior de Tecnologia da Saúde de Lisboa, Instituto Politécnico de Lisboa. Lisboa, Portugal. Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa. Lisboa, Portugal.
  • Helena Soares Departamento das Ciências Naturais e Exatas, Escola Superior de Tecnologia da Saúde de Lisboa, Instituto Politécnico de Lisboa. Lisboa, Portugal. Centro de Química e Bioquímica, Faculdade de Ciências, Universidade de Lisboa. Lisboa, Portugal.

DOI:

https://doi.org/10.25758/set.1661

Palavras-chave:

Genoma humano, Sequenciação em larga escala, Edição do genoma, Ética

Resumo

As áreas da biologia celular e molecular e da genética humana sofreram recentemente uma grande revolução que trouxe novo conhecimento e novas tecnologias. Os estudos de sequenciação em larga escala e de caracterização funcional permitem a monitorização simultânea de milhares de sequências e moléculas, gerando uma grande quantidade de dados e fornecendo detalhes moleculares em tempo real e de modo instantâneo de um indivíduo. Nesta revisão faz-se uma referência breve a algumas destas novas técnicas, incluindo os métodos de sequenciação de next-generation e os métodos de edição de genes baseados no sistema CRISPR/Cas9. São apresentadas as potenciais aplicações e implicações destas novas tecnologias nas áreas de investigação  e diagnóstico molecular. São também discutidas as questões éticas levantadas pela implementação destas metodologias num futuro próximo.

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Publicado

04-08-2022

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New high-throughput technologies of post genome era: benefits and ethical issues. (2022). Saúde & Tecnologia, 17, 05-10. https://doi.org/10.25758/set.1661