Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/7356
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dc.contributor.authorBrkušanin, Milošen_US
dc.contributor.authorGarai, Nemanjaen_US
dc.contributor.authorKaranović, Jelenaen_US
dc.contributor.authorŠljivančanin Jakovljević, Tamaraen_US
dc.contributor.authorDimitrijević, Aleksandraen_US
dc.contributor.authorJovanović, Kristinaen_US
dc.contributor.authorMitrović, Tanja Lazićen_US
dc.contributor.authorMiković, Željkoen_US
dc.contributor.authorBrajušković, Goranen_US
dc.contributor.authorNikolić, Dimitrije Mihailoen_US
dc.contributor.authorSavić-Pavićević, Dušankaen_US
dc.date.accessioned2024-11-01T09:11:05Z-
dc.date.available2024-11-01T09:11:05Z-
dc.date.issued2024-08-15-
dc.identifier.issn2409-515X-
dc.identifier.urihttps://biore.bio.bg.ac.rs/handle/123456789/7356-
dc.description.abstractInnovative treatments for spinal muscular atrophy (SMA) yield the utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening (NBS). We aimed to establish statewide NBS for SMA in Serbia. Our stepwise implementation process involved technical validation of a screening assay, collaboration with patient organizations and medical professionals, a feasibility study, and negotiation with public health representatives. Over 12,000 newborns were tested during the 17-month feasibility study, revealing two unrelated SMA infants and one older sibling. All three children received therapeutic interventions during the presymptomatic phase and have shown no signs of SMA. No false-negative results were found among the negative test results. As frontrunners in this field in Serbia, we established screening and diagnostic algorithms and follow-up protocols and raised awareness among stakeholders about the importance of early disease detection, leading to the incorporation of NBS for SMA into the national program on 15 September 2023. Since then, 54,393 newborns have been tested, identifying six SMA cases and enabling timely treatment. Our study demonstrates that effective collaborations between academia, non-profit organizations, and industry are crucial in bringing innovative healthcare initiatives to fruition, and highlights the potential of NBS to revolutionize healthcare outcomes for presymptomatic SMA infants and their families.en_US
dc.language.isoenen_US
dc.publisherMDPIen_US
dc.relation.ispartofInternational journal of neonatal screeningen_US
dc.subjectSMN1en_US
dc.subjectfeasibility studyen_US
dc.subjectgenetic testingen_US
dc.subjectmotor neuron diseaseen_US
dc.subjectneonatal screeningen_US
dc.subjectnewborn screeningen_US
dc.subjectpopulation screeningen_US
dc.subjectpublic healthen_US
dc.subjectreal-time PCRen_US
dc.subjectspinal muscular atrophyen_US
dc.titleOur Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbiaen_US
dc.typeJournal Articleen_US
dc.identifier.doi10.3390/ijns10030057-
dc.identifier.pmid39189229-
dc.identifier.scopus2-s2.0-85205070790-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85205070790-
dc.description.rankM21en_US
dc.description.impact4.0en_US
dc.description.startpage57en_US
dc.relation.issn2409-515Xen_US
dc.description.volume10en_US
dc.description.issue3en_US
item.languageiso639-1en-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.orcid0000-0002-4316-9231-
crisitem.author.orcid0000-0002-6291-5527-
crisitem.author.orcid0000-0002-3935-6755-
crisitem.author.orcid0000-0002-2079-4077-
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