Fernando C. Alsina

Scientists have successfully led the first in utero treatment of spinal muscular atrophy (SMA) with risdiplam. This groundbreaking trial shows promise for prenatal intervention in SMA. Learn more: ow.ly/ywFE50V39Hs

Rare genetic disorder treated in womb for the first time The child, who is now almost three years old, shows no signs of the often fatal motor neuron disease.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb.

https://go.nature.com/41a7Zzj

@stjuderesearch.bsky.social

2025 St. Jude Pediatric Translational Neuroscience Symposium The St. Jude Pediatric Translational Neuroscience Initiative (PTNI) is uniquely positioned to translate new understanding of disease and therapeutic technologies into impactful clinical outcomes for c...

2025 St. Jude Pediatric Translational Neuroscience Symposium!

Join us! Virtual attendance option available following the registration link below. Great topics, discussion and speakers. More information 👇🏼

www.stjude.org/education-tr...

Simultaneous profiling of native-state proteomes and transcriptomes of neural cell types using proximity labeling Deep molecular phenotyping of cells at transcriptomic and proteomic levels is an essential first step to understanding cellular contributions to development, aging, injury, and disease. Since proteome...

New preprint! A really fun project spearheaded by amazing graduate student @christinaramelow.bsky.social and a collaboration with Srikant Rangaraju's group.
www.biorxiv.org/content/10.1...

Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations Author summary DDX3X mutations are associated with neurodevelopmental disorders, including DDX3X syndrome and autism spectrum disorder. DDX3X is an RNA binding protein whose loss of function impairs b...

Happy to share some good news today, and our latest study on DDX3X! Led by super talented @federicamosti.bsky.social we use live imaging, transcriptomics and interaction studies to define how clinically diverse missense mutations in DDX3X influence neural development. dx.plos.org/10.1371/jour...