Antisense oligonucleotides (ASOs) are incredibly versatile molecules that can be designed
to specifically target and modify RNA transcripts to slow down or halt rare genetic disease …

Adeno-associated virus (AAV) has emerged as a fundamental component in the gene
therapy landscape, widely acknowledged for its effectiveness in therapeutic gene delivery …

Background: Digital measures offer an unparalleled opportunity to create a more holistic
picture of how people who are patients behave in their real-world environments, thereby …

Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of
the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival …

Background Rare diseases pose immense challenges for healthcare systems due to their
low prevalence, associated disabilities, and attendant treatment costs. Advancements in …

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease.
Nusinersen sodium (NS) is the world's first antisense oligonucleotide (ASO) drug for SMA …

In the United States and around the world, newborns are screened on a population basis for
conditions benefiting from pre-symptomatic diagnosis and treatment. The number of …

Splice site recognition is essential for defining the transcriptome. Drugs like risdiplam and
branaplam change how U1 snRNP recognizes particular 5'splice sites (5'SS) and promote …

Risdiplam, the first oral therapy approved for spinal muscular atrophy and made globally
available in 2021, necessitates a highly sensitive and straightforward assay for therapeutic …

Gene therapy is a powerful technology to deliver new genes to a patient for the treatment of
disease, be it to introduce a functional gene, inactivate a toxic gene, or provide a gene …