Related Experiment Video
Updated: Jun 2, 2026
07:02
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
Genetic therapies for RNA mis-splicing diseases
Suzan M Hammond1, Matthew J A Wood
1Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, UK, OX1 3QX.
Trends in Genetics : TIG
|April 19, 2011
Summary
Genetic therapies are correcting RNA mis-splicing, a cause of many inherited diseases. Promising clinical trials show potential for treating a wide range of genetic disorders by modifying RNA splicing.
Area of Science:
- Molecular Biology
- Genetics
- Biotechnology
Background:
- RNA mis-splicing contributes to a significant portion of inherited diseases, affecting various systems.
- The prevalence of identified splicing mutations has increased with advanced genomic sequencing.
- Recent advancements have translated RNA splicing correction from cell cultures to clinical applications.
Purpose of the Study:
- To review current genetic therapy strategies for correcting RNA mis-splicing.
- To discuss novel approaches targeting splice sites for disease treatment.
- To highlight the therapeutic potential of splicing modification for inherited disorders.
Main Methods:
- Review of antisense oligonucleotides for splicing modulation.
- Discussion of bifunctional RNA and trans-splicing techniques.
- Exploration of U1 and U7 small nuclear RNA modification strategies.
Main Results:
- Antisense oligonucleotides show promise in modifying RNA splicing.
- Bifunctional RNA and trans-splicing offer targeted approaches.
- Modification of snRNAs provides new avenues for splice site targeting.
Conclusions:
- Genetic therapy for RNA mis-splicing has advanced to clinical trials.
- Successful trials, like for Duchenne muscular dystrophy, pave the way for broader applications.
- Splicing modification holds significant therapeutic promise for numerous inherited diseases.
Related Concept Videos
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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