5 early signs of SMA for parents to look out for – The Irish News
Two life-changing treatments have been given the green light for routine NHS use, offering renewed hope to hundreds…
Jesy Nelson ‘bittersweet’ after Scotland becomes first to screen babies for SMA
Former Little Mix singer Jesy Nelson has said she feels “bittersweet” after Scotland became the first part of…
Scotland becomes first part of UK to screen babies for rare muscle disease – The Irish News
Scotland has become the first part of the UK to screen babies for a rare condition that causes…
Scotland becomes first part of UK to screen babies for rare muscle disease
Scotland has become the first part of the UK to screen babies for a rare condition that causes…
Zebrafish can play a decisive role in clinical interpretation of spinal muscular atrophy
The tiny zebrafish is helping researchers rapidly determine whether a newborn’s genetic mutation is likely to cause spinal…
Singer Jesy Nelson says her twins may never walk after being diagnosed with rare condition – The Journal
Singer Jesy Nelson says her twins may never walk after being diagnosed with rare condition The JournalJesy Nelson says…
Jesy Nelson reveals her twins are unlikely to walk after diagnosis
Former Little Mix singer Jesy Nelson has revealed her twin babies are unlikely to ever be able to…
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases
Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes.…
PacBio Targets Carrier Screening, Aims to Simplify Genetic Testing
PacBio is known in the genomics space for its HiFi sequencing technology—which provides long, highly accurate reads. But…