Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System

2021 ◽  
Author(s):  
Arlene M. D'Silva ◽  
Hugo Sampaio ◽  
Didu Sanduni Thamarasa Kariyawasam ◽  
David Mowat ◽  
Jacqui Russell ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Healthcare System ◽  
Muscular Atrophy ◽  
Public Healthcare ◽  
Public Healthcare System

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

2015 ◽  
Vol 39 (3) ◽  
pp. 217-229 ◽  
Author(s):  
Han C. Phan ◽  
Jennifer L. Taylor ◽  
Harry Hannon ◽  
Rodney Howell
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy

scholarly journals CRISPR, μια νέα τεχνολογία γενετικής παρέμβασης: Πρόταση αξιοποίησης σε ένα δημόσιο σύστημα υγείας

Bioethica ◽  
2020 ◽  
Vol 6 (2) ◽  
pp. 30
Author(s):  
Nikolaos Kolisis (Νικόλαος Κολίσης)
Keyword(s):  
Human Genome ◽  
Healthcare System ◽  
Public Healthcare ◽  
Public Healthcare System ◽  
Current Discussion ◽  
Potential Applications

The invention of CRISPR technology and its current and potential applications have been a subject of controversy among scientists, philosophers and legal theorists. After taking under consideration the current discussion concerning the use of CRISPR for editing human genome the article treats the question of a wider offer of CRISPR-based therapies from a Public Healthcare system and proposes method for a fair and financially sustainable way for adopting the new possibilities this new tool has to offer.

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