Pharmacogenetics of thiopurine and NUDT15 mutations presented at ASHG

The same drug can be given to two patients with the same diagnosis, in the same dosage and at the same time, and they can still respond differently.

Understanding what drives these differences in response is a major component of pharmaceutical science.

Pharmacogenetics describes the genetic influences on drug effects among different patients. Thiopurine drugs are a type of chemotherapy widely used to treat acute lymphoblastic leukemia.

Researchers have uncovered a relationship between the gene NUDT15 and how thiopurine drugs function. These findings support the use of NUDT15 to guide thiopurine dose to limit treatment-related toxicity.

“Our hope is that this work will serve as an example of the incredible impact of genomic discoveries and the role that pharmacogenomics can play in quickly translating laboratory findings into precision medicine for patients,” said Jun J. Yang, PhD, of the St. Jude Department of Pharmaceutical Sciences.  

This work was presented Oct. 18 at the American Society for Human Genetics annual meeting.