TS-002231 — About 1 in 50,000 people in the United States are affected by Friedreich’s Ataxia, an inherited disorder caused by a gene which damages the nervous system causing difficulties walking, slow speech, fatigue and sensation changes. Researchers at Nationwide Children’s Hospital developed an innovative way to modulate promoter activity to alter Frataxin gene expression using U7 small nuclear RNA. The U7 snRNA has mammalian origin, can have sustained and stable expression as it acts as a promoter and is safe for human patients. Additionally, the method suggests using U& snRNA with a tail to attract endogenous activator proteins which bind to DNA. The method can be combined with other gene replacement strategies to add additional U7-activators and using promoter regulation to activate promoters to upregulate a gene expression of a certain gene like Friedreich’s Ataxia.

TS-002222 — Myotonic dystrophy can occur at any age when there are mutations to the DMPK gene which causes patients to experience muscle weakness throughout the body. Researchers at Nationwide Children’s Hospital developed new technology to modulate the promoter activity to alter the DMPK gene expression by using U7 snRNA with a tail encoded with specific binding sequences. The tail will attract endogenous activator/repressor proteins which naturally exist in mammalian cells and bind to DNA sequences or secondary tissue. The binding of the protein to a promoter will allow for promoter regulation to activate or repress promoters; therefore, upregulating or downregulating gene expression of a certain gene like the DMPK gene.