Publicação
Era bioquímica/genómica: critérios de inclusão e questões técnicas
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.editor | Gaspar | |
| dc.date.accessioned | 2026-02-04T13:11:06Z | |
| dc.date.available | 2026-02-04T13:11:06Z | |
| dc.date.issued | 2025-10-10 | |
| dc.description | Comunicação a convite | |
| dc.description.abstract | Newborn screening has evolved significantly in the biochemical and pilot studies of genomic, enabling the early detection of a broad range of congenital disorders. The shift from traditional biochemical assays to high-throughput tandem mass spectrometry and next-generation sequencing has broadened the spectrum of identifiable conditions, including metabolic, endocrine, hematological, and immunological diseases, as well as rare genetic syndromes. These technological advances enable presymptomatic diagnosis and prompt initiation of life-saving therapies, significantly improving long-term outcomes. However, the integration of genomic technologies introduces a host of technical challenges, including the standardization and validation assays, the interpretation and classification of genetic variants of unknown significance, and the management of incidental or secondary findings unrelated to the original screening purpose. Additional challenges involve the integration of large-scale data into healthcare systems, the need for robust data privacy protections, and the development of clear communication strategies for families. Addressing these technical, ethical, and logistical challenges is crucial to realizing the full potential of newborn screening in the modern era while ensuring responsible program expansion and equitable access. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10803 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | Bioquímica | |
| dc.subject | Genómica | |
| dc.subject | Genómica Funcional e Estrutural | |
| dc.subject | Doenças Genéticas | |
| dc.subject | Newborn Screening | |
| dc.subject | Genomic | |
| dc.title | Era bioquímica/genómica: critérios de inclusão e questões técnicas | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-10-10 | |
| oaire.citation.conferencePlace | Porto, Portugal | |
| oaire.citation.title | 6ª Reunião Científica MPS 360º: MPS e Doenças Afins - Desafios 2025, 10 outubro 2025 | |
| oaire.version | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |
| person.familyName | da Silva Gaspar | |
| person.givenName | Paulo Jorge Miranda | |
| person.identifier | 1370352 | |
| person.identifier.ciencia-id | 7213-8E3E-DC0D | |
| person.identifier.orcid | 0000-0002-4255-0946 | |
| person.identifier.rid | K-4425-2013 | |
| person.identifier.scopus-author-id | 57201454370 | |
| relation.isAuthorOfPublication | 00161b65-b2af-4d9d-8a3d-06e184813012 | |
| relation.isAuthorOfPublication.latestForDiscovery | 00161b65-b2af-4d9d-8a3d-06e184813012 |