The ability of chemical modifications of single nucleotides to alter the electrostatic charge,
hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of …

Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Defective genes account for∼ 80% of the total of more than 7,000 diseases known to date.
Gene therapy brings the promise of a one-time treatment option that will fix the errors in …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

The increasing number of approved nucleic acid therapeutics demonstrates the potential to
treat diseases by targeting their genetic blueprints in vivo. Conventional treatments …

Antisense technology is now beginning to deliver on its promise to treat diseases by
targeting RNA. Nine single-stranded antisense oligonucleotide (ASO) drugs representing …

Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease
characterized by an onset at 6 months of age or younger, an inability to sit without support …

Recent advances suggest that the response of RNA metabolism to stress has an important
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …