Newborn Screening for SMA—State of the Art
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (31 May 2024) | Viewed by 10854
Special Issue Editors
Interests: emerging technologies in newborn screening (real-time PCR, next generation sequencing, droplet digital PCR); severe combined immunodeficiency; spinal muscular atrophy; cystic fibrosis
Special Issues, Collections and Topics in MDPI journals
Interests: metabolomics in newborn screening; cystic fibrosis; spinal muscular atrophy; high resolution mass spectrometry; next generation sequencing; advanced statistical procedures in data analysis; policies and governance of newborn screening programmes
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
In 2018, spinal muscular atrophy (SMA) was included in the Recommended Uniform Screening Panel in the USA. Since then, in Europe, the USA and Australia, countries and states have begun to evaluate, operate or plan newborn screening programs for SMA.
On December 12th and 13th, 2023, we will host a virtual meeting of leaders in the field from around the world to discuss progress in programs, laboratory techniques and ELSI aspects of SMA screening. While we already have possible submissions for this Special Issue from the speakers of the virtual meeting, we warmly invite you to submit your contribution to this important issue. Thus, we hope to have an even more complete coverage of neonatal screening for SMA.
Dr. Mei Baker
Dr. Enzo Ranieri
Dr. Peter C. J. I. Schielen
Guest Editors
Manuscript Submission Information
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Keywords
- SMA bith prevalence
- screening program
- laboratory methods
- case definition
- SMN1 and SMN2 copy numbers
- quality assurance
- ELSI aspects
- treatment
- short-term follow-up
- long-term follow-up
- efficacy of treatment
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