Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Volume: 381, Issue: 17, Pages: 1644 - 1652
Published: Oct 24, 2019
Abstract
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching...
Paper Details
Title
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Published Date
Oct 24, 2019
Volume
381
Issue
17
Pages
1644 - 1652
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History