Study reveals expanding gene therapy for rare disease that causes blindness

In an effort to treat the rare genetic condition Usher Syndrome Type 2A (USH2A), a University of Houston researcher is developing a gene therapy technique.

Usher Syndrome Type 2A, which is brought on by mutations in the USH2A gene, can cause retinitis pigmentosa as well as hearing loss from birth and gradual visual loss (RP). The light-sensitive layer of the eye called the retina is impacted by RP, and this causes the retina's cells to break down, which results in blindness. There is currently no cure for USH2A.

"Our goal is to advance our current intravitreal gene therapy platform consisting of DNA nanoparticles/hyaluronic acid nanospheres to deliver large genes in order to develop safe and effective therapies for visual loss in Usher Syndrome Type 2A," said Naash. Gene therapy is the introduction of a normal gene into cells to correct genetic disorders. Intravitreal treatment consists of injections directly into the vitreal chamber of the eye.

"Developing an effective treatment for USH2A has been challenging due to its large coding sequence (15.8 kb) that has precluded its delivery using standard approaches and the presence of multiple isoforms with functions that are not fully understood," said Naash, who will also evaluate the long-term efficacy of the best therapeutic platform for future translation to the clinic.

To rescue vision loss, Naash's non-viral therapy targets the mutation in usherin, the protein product that causes Usher Syndrome Type 2A. Naash has already cloned two usherin isoforms to be tested with her innovative platform to safely advance gene therapy for USH2A.

"Understanding which isoforms of usherin are expressed in the retina and the cochlea and what role they play (in contrast to mutant pathogenic forms) is essential in developing an effective gene therapy construct," said Naash.

( With inputs from ANI )

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