May 25, 2021
Gene fusion discovery in ultrarare tumor highlights potential therapeutic target
By Susan Murphy
A scientific investigation led by a team of researchers from Mayo Clinic’s Center for Individualized Medicine reveals that an ultrarare cancer called epithelioid trophoblastic tumor (ETT), which can develop in the uterus after conception, recurrently exhibits an abnormal fusion of two genes. This fusion creates an unusual protein that triggers aggressive cell growth — the […]
Tags: #Gavin Oliver, Dr. Eric Klee
October 23, 2019
Finding the needle in the haystack: a tool for rare inherited diseases
Individualized medicine has had notable success in identifying DNA mutations that cause cancer. But rare inherited diseases pose an even bigger challenge. Like a needle in a haystack, the cause of a rare inherited disease is often deeply buried, in the DNA that comprises genes or controls their expression. Now however, Mayo Clinic’s Center for […]
Tags: #Gavin Oliver, biioinformatics, center for individualized medicine, fusion transcript detection, fusion transcription, Genetic Testing, genomics, inherited rare diseases, mayo clinic, RNA sequencing