Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

  • Connection and Community

    Connection and Community

    Together-WE are All Rare, All Family, Always Connected. Our Community remains strong because of you and your support.

  • 1

Latest News

  • 1
  • 2

 

NTSAD leads the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1, and Sandhoff diseases
by driving research, forging collaboration, and fostering community.

Supporting families is the center of everything we do.

Join us, learn more, and support our cause.

 

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.

 

Login