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[2020/05/18] A Breakthrough in the Genetic Editing Identified by Professor Chiou's Team Might be a Solution to X-linked Juvenile Retinoschisis

Professor Chiou (middle) and his lab members

 

X-linked Juvenile Retinoschisis (XLRS) is a severe degenerative disease of the retina. Professor Chiou of the National Yang-Ming University's Department and Institute of Pharmacology has successfully delivered genetic editing components that are able to edit mutations causing XLRS; the breakthrough involves using nanodiamonds as a carrier and this technique creates hope that a genetic treatment for this disease will be developed.

 

The incidence of XLRS in populations is between 1 in 5000 and 1 in 1/25,000 and it usually develops in young male children at around the age of ten years. The disease often causes permanent visual loss due to retinal detachment and mutations in a known gene (RS1) are known to be responsible for XLRS. Although various gene-based medical treatments for this disease have been developed, there are patients whose vision does not improve even after two years of such treatment. Therefore, the development of new genetic treatment approaches is an urgent necessity.

 

Professor Chiou and his student Huang KC have successfully established XLRS induced pluripotent stem cells from induced pluripotent stem cells (iPS) and these have been differentiated into 3D XLRS-iPS Organoids. The research group then verified that the CRISPR/Cas9 gene editing technique can be applied to organs like the retina, which opens up the possibility of treatment of XLRS by genetic editing.

 

Using these findings as a base, Professor Chiou and his team worked with Professor Chang of National Chiao Tung University's Institute of Molecular Medicine and Bioengineering and Professor Tseng of National Cheng Kung University's Institute of Microelectronics to develop a non-viral CRISPR genetic editing vector using nanodiamonds. Using this nanovector, they were able to deliver the genetic editing components of the CRISPR/Cas9 system successfully into human iPS stem cells and into the retina of mice. They confirmed that this approach is able to repair the genetic mutations that cause XLRS and in time the system could be potentially developed as a drug-based genetic treatment for XLRS.

 

A: OCT macular scanning of a young patient with a macular hole. B: The successful differentiation of iPS cells in which a clear cleft can be seen. C: The CRISPR/Cas9 technique was applied to XLRS-iPS organoids and the results show that the R1 and R2 section of the retina are improved by genetic editing. D: iPSC along with CRISPR/Cas9 allows repair of the retina and a full recovery of its function

 

Recently, Professor Chiou, his student assistant Chou (Taipei Veterans General Hospital Department of Medical Research), Paul S. Welss (UCLA, USA) and Professor Tseng (Department of Molecular Pharmacology) established a research team and they have been successful at combining nanotechnology with genetic editing; their aim was to begin exploring RS1 knock-in research. The research findings have just been published in “Advanced Science” and have introduced a number of new ideas for the treatment of XLRS.

 

 

 

 

 

 

 

 

 


 

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