PITTSBURGH, Sept. 16 (UPI) -- U.S. medical researchers say they have discovered a genetic mutation that identifies transplant recipients who might experience organ rejection.
Children's Hospital of Pittsburgh scientists led by Dr. Rakesh Sindhi studied DNA samples from 80 children who received liver transplants and their parents.
"To identify mutations that mark a disease, from the millions of known mutations in the human genome, one needs to study hundreds, even thousands of patients with that disease," Sindhi said. "As a result, large-scale scanning of known mutations has not been applied to rarer diseases, such as those that affect children.
"However, by combining multiple layers of genetic information, with information from the cell types and processes affected by these genes, we can now study less common diseases using smaller numbers of subjects," he added. "Such mutations are likely to become the basis of a genomic fingerprint, which will allow us to predict who will experience rejection beforehand, and to personalize anti-rejection medication.
"The novel combination of techniques used in this study is a major methodological advance toward developing personalized diagnostics for transplant recipients, which will improve outcomes and quality of life."
Results of the study are published in the journal Gastroenterology.
