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Tay-Sachs, Canavan, GM1, and Sandhoff diseases
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Stop-Codon Readthrough Technology is a 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 proteins (including 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. One challenge of this technology is learning how to effectively use this technology to both read through disease causing stop codons and ignore stop codons in the proper place.