New gene-editing method could treat rare diseases
Researchers at the Broad Institute, Harvard University, and the University of Minnesota have come up with a new gene-editing method, called PERT, that could one day treat a bunch of rare genetic disorders.
PERT uses prime editing to tweak certain genes so the body can make full-length, working proteins—even when there's a glitch in the DNA.
Nonsense mutations and how they cause diseases
Some rare diseases happen because of "nonsense mutations"—basically, random stop signs in your DNA that cut protein-making short.
This leads to broken or missing proteins behind diseases like cystic fibrosis and Tay-Sachs.
PERT uses prime editing to convert a dispensable endogenous tRNA gene into an optimized suppressor tRNA that reads through those stop signals so cells can finish making the proteins they need.
One treatment could help lots of different conditions
In lab tests, PERT worked on human cells with up to 80% efficiency and didn't mess with other parts of the genome.
It even restored protein activity in models for several tough-to-treat diseases.
Plus, since nonsense mutations account for about a quarter of disease-causing changes and the team screened thousands of tRNA variants to identify a small number of optimized suppressor tRNAs, one treatment could help lots of different conditions—which could help make therapies faster and less expensive for more patients.