The p53 gene is the most commonly mutated gene in human cancers. Francisco J. Sánchez-Rivera plans to comb through human tumor data to systematically identify recurring—but understudied—p53 mutations, and figure out how they wreak havoc in the body. Many of these mutations are known to inactivate the p53 protein and eliminate its role as a tumor suppressor. But Sánchez-Rivera is particularly interested in mutations that create proteins with new abilities. His studies may kindle new therapeutic strategies relevant to a broad range of cancers.
Precision genome editing tools – including prime editing – enable scientists to model genetic variants in their native environment. Now, researchers have developed a framework for engineering and measuring the effects of thousands of genetic mutations simultaneously while accurately quantifying the efficiency of prime editing. They’ve even found that some mutations once considered to be inconsequential or nonpathogenic may contribute to cancers.