Duchenne Muscular Dystrophy Workgroup
The rare disease workgroup focuses on patients with Duchenne Muscular Dystrophy (DMD). DMD is a genetic disorder caused by an absence of dystrophin, a protein that helps muscle cells stay intact, and affects young males. Symptoms of DMD include muscle degeneration and weakness and usually appear in early childhood. The DMD workgroup is co-led by Barry Byrne, M.D., Ph.D. and Krista Vandenborne, PT, Ph.D., of the University of Florida.
The workgroup is currently focused on designing and validating a computable phenotype for DMD, because current codes are not accurate. Other project aims include characterizing bone health issues and treatments and determining whether bone density measures and blood markers of bone health can predict fracture risk. In addition, the OneFlorida DMD group is working with the DuchenneConnect Patient-Powered Research Network to develop and promote the adoption of an early newborn screening method for DMD. Currently, the average age of diagnosis is 4.5 years, putting children at a disadvantage regarding early interventions.
- Develeopment of a Computable Phenotype for Duchenne Muscular Dystrophy
PI: Rebecca Willcocks, Ph.D.
- January 19, 2016 – Bone Health Study Overview, at the Duchenne Healthcare Utilization Collaboration Meeting, at the Lake Nona Research & Academic Center, in Orlando, Florida.