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dc.contributor.authorHeredia-Torrejón, María
dc.contributor.authorMontañez, Raúl
dc.contributor.authorGonzález-Menese, Antonio
dc.contributor.authorCarcavilla, Atilano
dc.contributor.authorLechuga-Sancho, Alfonso María
dc.contributor.authorMedina, Miguel Ángel
dc.date.accessioned2024-11-26T10:43:13Z
dc.date.available2024-11-26T10:43:13Z
dc.date.issued2024-09-06
dc.identifier.citationHeredia-Torrejón, M., Montañez, R., González-Meneses, A. et al. VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation. Orphanet J Rare Dis 19, 327 (2024). https://doi.org/10.1186/s13023-024-03307-6es_ES
dc.identifier.urihttps://hdl.handle.net/10630/35309
dc.description.abstractThe diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis, leaving more than 50% of genetic variants categorized as variants of uncertain significance.Genomic expression intricately hinges on localized interactions among its products. Conventional variant prioritization, biased towards known disease genes and the structure-function paradigm, overlooks the potential impact of variants shaping the composition, location, size, and properties of biomolecular condensates, genuine membraneless organelles swiftly sensing and responding to environmental changes, and modulating expressivity.To address this complexity, we propose to focus on the nexus of genetic variants within biomolecular condensates determinants. Scrutinizing variant effects in these membraneless organelles could refine prioritization, enhance diagnostics, and unveil the molecular underpinnings of rare diseases. Integrating comprehensive genome sequencing, transcriptomics, and computational models can unravel variant pathogenicity and disease mechanisms, enabling precision medicine. This paper presents the rationale driving our proposal and describes a protocol to implement this approach. By fusing state-of-the-art knowledge and methodologies into the clinical practice, we aim to redefine rare diseases diagnosis, leveraging the power of scientific advancement for more informed medical decisions.es_ES
dc.description.sponsorshipFunding for open access publishing: Universidad de Cádiz/CBUA. This research was funded by the Andalusian Ministry of Health and Families through the initiative (RPS 24664), code PI-0069-2022; from group BIO267 and CTS927 (Andalusian Government), and by grants PID2022-138181OB-I00 (MICINN and FEDER). The “CIBER de Enfermedades Raras” is an initiative from the ISCIII (Spain). Funding for open access publishing: Universidad de Cádiz/CBUAes_ES
dc.language.isoenges_ES
dc.publisherBioMed Centrales_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.subjectEnfermedades rarases_ES
dc.subject.otherBiomolecular condensationes_ES
dc.subject.otherGenetic variant prioritizationes_ES
dc.subject.otherIntrinsically disordered protein regionses_ES
dc.subject.otherLLPSes_ES
dc.subject.otherMolecular diagnosises_ES
dc.subject.otherMolecular effects of genetic variationses_ES
dc.subject.otherRare diseaseses_ES
dc.titleVUS next in rare diseases? Deciphering genetic determinants of biomolecular condensationes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.identifier.doi10.1186/s13023-024-03307-6
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones_ES


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