New advances in treating inherited retinal diseases highlighted in Human Gene Therapy

May 8, 2012

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website at http://www.liebertpub.com/hum.

After 20 years of promising research, testing in animal models, and initial clinical trial results of to treat retinal dystrophies, Robin Ali, University College London Institute of Ophthalmology (UK) is "optimistic about the future prospects for retinal gene therapy" mainly because the retina has proven to be a good and accessible target for gene delivery, and scientists have developed efficient and safe viral delivery systems that can successfully introduce therapeutic genes into in the retina. The main challenge now is to increase the number of gene therapies in clinical trials and to optimize these treatments for patients, says Dr. Ali in the Commentary "Gene Therapy for Retinal Dystrophies: Twenty Years in the Making."

Retinitis pigmentosa (RP) is one group of inherited disorders that causes degeneration of the retina due to various gene mutations. Astra Dinculescu, University of Florida, Gainesville, and colleagues from University of Pennsylvania (Philadelphia), National Autonomous University of Mexico, and Glasgow Caledonian University (Scotland) provide that gene-based therapy may be able to replace the in one type of RP in humans. They demonstrate that replacement of the mutant gene in a mouse model of RP prevented subsequent degeneration of the retina in the article "Gene Therapy for Retinitis Pigmentosa Caused by MRFP Mutations: Human Phenotype and Preliminary Proof of Concept."

Haoyu Mao and coauthors from University of Florida, Gainesville, and University of North Texas Health Science Center (Fort Worth) showed long-term success in maintaining normal retinal structure and function following delivery of a human rhodopsin gene to a mouse model of RP. Their findings are reported in the article "Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice."

"Inherited diseases affecting retinal function are likely to be in the first wave of commercial successes," says James M. Wilson, MD, PhD, Editor-in-Chief of , and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

Explore further: Latest advances in gene therapy for ocular disease are highlighted in Human Gene Therapy

Related Stories

Latest advances in gene therapy for ocular disease are highlighted in Human Gene Therapy

May 9, 2011
Disorders of the eye are excellent targets for gene therapy because the ocular environment is readily accessible, relatively easy to monitor, and sequestered from the rest of the body. A series of articles available online ...

Study demonstrates potential of new gene vector to broaden treatment of eye diseases

June 22, 2011
Inspired by earlier successes using gene therapy to correct an inherited type of blindness, investigators from the Perelman School of Medicine at the University of Pennsylvania, are poised to extend their approach to other ...

Recommended for you

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

An architect gene is involved in the assimilation of breast milk

October 17, 2017
A family of "architect" genes called Hox coordinates the formation of organs and limbs during embryonic life. Geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), ...

Study identifies genes responsible for diversity of human skin colors

October 12, 2017
Human populations feature a broad palette of skin tones. But until now, few genes have been shown to contribute to normal variation in skin color, and these had primarily been discovered through studies of European populations.

Genes critical for hearing identified

October 12, 2017
Fifty-two previously unidentified genes that are critical for hearing have been found by testing over 3,000 mouse genes. The newly discovered genes will provide insights into the causes of hearing loss in humans, say scientists ...

Team completes atlas of human DNA differences that influence gene expression

October 11, 2017
Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.