science

Details of the model, which is called RTDetective, are provided in a new paper published in Nature Genetics titled, “Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules.” Its developers believe that the tool could be helpful in the design, development, and efficacy of clinical trials of drugs referred to as nonsense suppression therapies.

Understanding these drugs requires some background on truncated protein translation due to premature termination codons. This phenomenon has been linked to approximately 10–20% of inherited diseases including some types of cystic fibrosis and Duchenne muscular dystrophy. It is also a major mechanism by which tumor suppressor genes are inactivated in cancer.