Posted by Friends of FSH Research on Aug 1, 2019
Supported by the Friends of FSH Research, we were able to complete the proposed studies, in which we developed and validated an improved experimental method to analyze protein profiles of blood samples from individuals with early onset FSHD. We identified 28 proteins that were different in the blood samples of individuals affected by FSHD in comparison to unaffected individuals. In addition to proteins we also identified miRNAs that are different in the blood samples. We validated the differences using independent assays. The next important step is to further study these biomarker candidates in samples that are collected from different studies to show that these differences are consistent in individuals with FSHD. During this period of time, we formed collaborations with both industrial and academic groups to further study the biomarker candidates. In addition to validating data from different sets of samples, we will use samples collected longitudinally to determine whether the levels of these biomarker candidates in blood can be used to evaluate disease states. The ultimate goal is to identify biomarkers that can be used to evaluate the efficacy of treatments in clinic. We thank the support from the Friends of FSH Research Foundation, which allow us to conduct the study.