Chapter title |
Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies
|
---|---|
Chapter number | 69 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2016
|
DOI | 10.1007/978-3-319-17121-0_69 |
Pubmed ID | |
Book ISBNs |
978-3-31-917120-3, 978-3-31-917121-0
|
Authors |
Xavier Gerard, Alejandro Garanto, Jean-Michel Rozet, Rob W. J. Collin, Gerard, Xavier, Garanto, Alejandro, Rozet, Jean-Michel, Collin, Rob W. J. |
Abstract |
Inherited retinal dystrophies (IRDs) are an extremely heterogeneous group of genetic diseases for which currently no effective treatment strategies exist. Over the last decade, significant progress has been made utilizing gene augmentation therapy for a few genetic subtypes of IRD, although several technical challenges so far prevent a broad clinical application of this approach for other forms of IRD. Many of the mutations leading to these retinal diseases affect pre-mRNA splicing of the mutated genes . Antisense oligonucleotide (AON)-mediated splice modulation appears to be a powerful approach to correct the consequences of such mutations at the pre-mRNA level , as demonstrated by promising results in clinical trials for several inherited disorders like Duchenne muscular dystrophy, hypercholesterolemia and various types of cancer. In this mini-review, we summarize ongoing pre-clinical research on AON-based therapy for a few genetic subtypes of IRD , speculate on other potential therapeutic targets, and discuss the opportunities and challenges that lie ahead to translate splice modulation therapy for retinal disorders to the clinic. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 25% |
Student > Master | 10 | 21% |
Student > Ph. D. Student | 7 | 15% |
Student > Bachelor | 3 | 6% |
Professor | 2 | 4% |
Other | 5 | 10% |
Unknown | 9 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 11 | 23% |
Agricultural and Biological Sciences | 9 | 19% |
Pharmacology, Toxicology and Pharmaceutical Science | 6 | 13% |
Medicine and Dentistry | 4 | 8% |
Chemistry | 2 | 4% |
Other | 6 | 13% |
Unknown | 10 | 21% |