Funding from the Facioscapulohumeral Muscular Dystrophy Society –FSH Society, Inc. – will help researchers determine the role a seldom-studied gene plays in the development and progression of facioscapulohumeral muscular dystrophy (FSHD), a debilitating muscular dystrophy often originating in the face, shoulders and upper arms.
In order to help uncover the genetic mechanisms behind FSHD – recently considered to be the most prevalent muscular dystrophy affecting men, women and children – Scott Harper, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital and assistant professor of Pediatrics at The Ohio State University College of Medicine, has been awarded the first FSH Society Jacobs Family Research Fellowship Grant (FSHS-JJFR-001).
Utilizing this one-year, $40,000 fellowship grant, Dr. Harper and his team will investigate the role of the DUX4 gene in FSHD pathogenesis. Dr. Harper’s previous research has shown that DUX4 over-expression leads to muscular-dystrophy-related symptoms in otherwise normal animals. The work funded by this FSH Society award will investigate normal DUX4 function, which Dr. Harper believes will help provide clues to how the gene may be involved in FSHD development.
“This award demonstrates the instrumental role the FSH Society continues to play in the study of this disease,” said Dr. Harper. “My lab has made significant scientific progress in the last year and I have great hope that this generous Jacobs Family award from the FSH Society will help us further understand the role DUX4 may play in FSHD development. Ultimately, the more we know about the disease, the closer we get to developing effective treatments.”
Dr. Harper’s team includes Lindsay Wallace, a graduate student of the Molecular, Cellular and Developmental Biology Graduate Program at The Ohio State University, and Research Assistant Sara Garwick. Jing Yang, PhD, and Wenyan Mei, PhD, principal investigators in the Center for Cell and Developmental Biology at Nationwide Children’s are also collaborating with Dr. Harper on this project.
About the FSH Society, Inc.
The FSH Society is the world’s largest and most progressive grassroots network of FSHD patients, their families and research activists. The group is solely dedicated to treating and curing FSHD through basic, translational and clinical research.
The FSH Society empowers scientists by ensuring access to patients, resources and funds for FSHD research and development. The society also empowers patients by ensuring them a voice to convey what it is like to live with muscular dystrophy.