Rabi Tawil, professor of neurology at the University of Rochester Medical Center in Rochester, N.Y., was awarded a one-year MDA research grant totaling $92,222 to develop a biomarker for facioscapulohumeral muscular dystrophy (FSHD).
FSHD is caused by aberrant expression (activity) of a gene called DUX4, which is usually silenced in adult muscle tissue. DUX4 turns on other genes, and activity of these genes is believed to cause disease by multiple mechanisms, including direct toxicity, interference with normal cell function and provoking the immune system.
“Having identified potential therapeutic targets in FSHD,” says Tawil, “it becomes crucial to identify sensitive, disease-related biological markers [biomarkers] that can be easily measured in blood or muscle tissue to assess the effectiveness of future disease-modifying drugs.” FSHD researchers recently came to consensus that development of biomarkers was a top priority for progress in the disease.
Tawil will be investigating whether a small group of these abnormally expressed genes may serve as biomarkers. He will examine muscle biopsies and blood serum from individuals with FSHD and unaffected individuals, and compare the level of proteins made from these genes. Any differences will then be correlated with the overall disease severity and the severity of changes in the muscle.
“At the end of this study we hope to have promising biomarkers for future clinical trials,” he says. “Research is now focused on treatment of FSHD, and consequently having all the tools ready for future clinical trials is essential.”
Funding for this MDA grant began Feb. 1, 2013.