Chen, Principal Investigator at the Center for Genetic Medicine Research at Children’s National and associate professor of pediatrics and integrative systems biology at George Washington University, will receive the research grant of $179,104 for two years for her project titled “Developing LNA-based therapy for facioscapulohumeral muscular dystrophy.”
FSHD is a complex genetic disorder caused by aberrantly expressed double homeobox protein 4 (DUX4) in patients’ cells that ultimately leads to the weakening of skeletal muscles often beginning in teenage years or early adulthood. Her research will focus on the next phases of developing LNA-based therapy for patients with FSHD through an in vivo study in a preclinical model.
“We have been designing compounds to inject into a preclinical model of FSHD in order to first reduce the DUX4 in the muscle and then identify the compounds that work best,” says Chen. Researchers will inject varying doses of the compound directly into the muscle for localized delivery and under the skin to reach the entire body for systemic delivery.
Currently there is no treatment for FSHD. After 15 years spent researching the disease, Chen hopes to test the efficacy of the compounds in order to identify a treatment.