☆ 4.1 Letter

A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland

SCOTTISH MEDICAL JOURNAL (2022)

Ethical questions concerning newborn genetic screening

Montserrat Esquerda et al.

Summary: Newborn screening is a public health strategy to identify diseases early, with the decision of which diseases to screen for based on factors such as disease significance, natural history, available testing methods, effectiveness of early treatment, and the capability of the health system. This screening currently relies on biochemical markers, but advances in technology have opened up the possibility of genetic screening, presenting both technical and ethical challenges.

CLINICAL GENETICS (2021)

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Article Multidisciplinary Sciences

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Francois Boemer et al.

Summary: Three new therapies for SMA have been approved by FDA and EMA since 2016, with emphasis on early administration before symptoms. A pilot program in Belgium successfully transitioned into an official neonatal screening program, providing valuable lessons for newborn screening.

SCIENTIFIC REPORTS (2021)

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Editorial Material Clinical Neurology

Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy

Thomas H. Gillingwater

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)

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Review Cell Biology

Spinal muscular atrophy: From approved therapies to future therapeutic targets for medicine

Helena Chaytow et al.

Summary: Spinal muscular atrophy is a devastating childhood disease that requires a combination of therapies beyond gene therapy. Exploring alternative approaches to increase SMN protein levels may provide additional opportunities for effective treatment across the lifespan of patients with SMA.

CELL REPORTS MEDICINE (2021)

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Article Genetics & Heredity

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Denise M. Kay et al.

GENETICS IN MEDICINE (2020)

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Article Clinical Neurology

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo et al.

NEUROMUSCULAR DISORDERS (2019)

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A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland

相关参考文献

Ethical questions concerning newborn genetic screening

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy

Spinal muscular atrophy: From approved therapies to future therapeutic targets for medicine

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

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