Striated Muscle Physiology & Pathology

SKELETAL MUSCLE MYOPATHIES: Our first study of the human skeletal muscle began with an insulin resistance project. Along with a postdoc in my laboratory and a sabbatical visitor, I developed the first complete functional network model of the human skeletal muscle. Using transcriptomic measurements from hundreds of human patients (including our own clinical studies) and detailed legacy knowledge of the skeletal muscle, we were able to obtain the “canonical” normal skeletal muscle map. We examined data from DMD and ALS patients and identified aberrant mechanisms in these patients. We then used our modularity methods (described above) to identify cross-talk mechanisms in DMD patients. In collaboration with Richard Lieber, a muscle physiologist and physician, we developed network models of cerebral palsy and some of these investigations are continuing. Also, in collaboration with Lieber, we have teased out longitudinal response in skeletal muscle to Botox treatments. An exciting paper that describes the short and long term response to botox treatment followed.

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