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International Journal of Neonatal Screening, Volume 10, Issue 3
September 2024 - 23 articles
Cover Story: Through a stepwise approach—validating a newborn screening (NBS) assay, collaborating with patient organizations, healthcare professionals, and pharmaceutical companies, conducting a comprehensive feasibility study, and engaging public health representatives—we have transformed our strategy for the prevention of spinal muscular atrophy (SMA). The 17-month feasibility study yielded remarkable results, culminating in the integration of NBS for SMA into the national program on September 15, 2023. Since then, 54,393 newborns have been screened, identifying six SMA cases and providing them with critical early intervention. This work underscores the vital role of collaboration among academia, patient advocates, and industry, demonstrating that, together, we can achieve impactful outcomes for families in need and pave the way for a healthier future. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X