Dr. Bönnemann's clinical and laboratory interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at Children's Hospital of Philadelphia and currently at the National Institutes of Health, his efforts have been devoted to diagnosing and treating children with complex neuromuscular and neurogenetic conditions. His team uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish phenotypic spectra and the natural history of known genetic conditions. Their focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly progressive reducing-body myopathy, for which his research team recently identified the causative gene.
In its basic research, Dr. Bönnemann's laboratory team explores the role of interactions between muscle and its extracellular matrix in development, maintenance and regeneration of voluntary muscle. Using animal models and human cells in vitro, the group also looks at how these interactions are perturbed in muscular dystrophy and other muscle disorders. Their overriding goal - in both the laboratory and the clinic - is to define opportunities for therapeutic interventions for patients who are affected by congenital muscle disorders.
Last Reviewed: August 27, 2013