01/16/2026
In genetics, two wrongs can sometimes make a right.
PNRI scientists have overturned a long-held belief that inheriting two damaging variants in the same gene must always make disease worse. In a new study published today in the Proceedings of the National Academy of Sciences, researchers show that pairs of variants—each harmful on its own—can often work together to restore normal protein function.
By experimentally testing thousands of variant combinations and developing an AI-based predictive model, the team found this kind of genetic “rescue” in more than 60% of cases studied, particularly in genes linked to rare disease.
This discovery could lead to more accurate diagnoses and more personalized care for people with rare genetic disorders.
Read more at: https://bit.ly/4qKEGhK