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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Stop-Codon Read Through Technology

What is Stop-Codon Read Through Technology?

Stop-Codon Read Through Technology is an emerging field that could potentially treat genetic diseases caused by stop codons. Stop codons are genetic phrases that indicate the end of the gene, like the period at the end of a sentence. Some genetic diseases are caused by mutations which place the period before the end of the gene resulting in enzymes that do not work properly. Stop Codon Read Through Technology uses small molecules that cross the blood brain barrier into the central nervous system and induce the cell to ignore the stop codon resulting in a properly functioning enzyme.

What is the Current Status of Stop-Codon Read Through Technology?

There are currently clinical trials in a variety of diseases based on this approach, including cystic fibrosis and Duchenne Muscular Dystrophy.

What are the Challenges of Stop-Codon Read Through Technology?

This approach is limited to affected people with this particular type of mutation. Scientists are still learning how to effectively use this technology to both read through disease causing stop codons and ignore stop codons in the proper place.