Biomarker discovery and validation
The National Institutes of Health’s Biomarkers Definitions Working Group defines a biomarker as “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.” Biomarkers have become an important read-out measure to study the therapeutic effect of drugs in clinical trials, in particular to show effect at an earlier stage than clinical outcome measures. By definition objective, quantifiable characteristics of biological processes, biomarkers must reliably show change in response to the process or intervention being measured, and in many cases this has been lacking in neuromuscular disease.
The discovery, definition and validation of reliable and sensitive blood, cell and tissue-related biomarkers is therefore an important goal of our lab’s research, since it is a foundation for diagnosis, monitoring of disease progression, and evaluation of potential therapy for our diseases of interest. Our group has worked on biomarkers for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1) and GNE myopathy at both the biochemical and molecular genetic level. We have defined markers that show consistent and significant correlation with disease severity, and are working to take this research forward in larger cohorts.