About FSHD Canada Foundation
Identify Biomarkers for FSHD Using Omics Approaches

Identify Biomarkers for FSHD Using Omics Approaches


• Amount awarded: US$97,734
• FSHD Canada Foundation Contribution: US$25,000
• Date awarded: June 6, 2018 (for one year)

Lay Abstract

Investigator: Yi-Wen Chen, Ph.D. (Children’s Research Institute in Silver Spring, Maryland)

Biomarkers are biological changes that can be used as indicators of physiological and disease states. Biomarkers can be valuable when the primary cause of the disease is difficult to be examined due to technical or ethical considerations. The goal of this study is to identify protein biomarkers in blood samples from patients with early onset FSHD, which can be used to evaluate treatment efficacy in clinical trials. In this study, we propose to identify biomarkers using mass spectrometry, which will identify proteins that change abundance in patients’ blood samples. We will then search for those that are good indicators for disease severity and progression. Our preliminary studies have demonstrated feasibility and advantage of using this approach. In the proposed study, we will use the method to screen all samples we have in hand. In addition, we will develop a novel method, parallel reaction monitoring (PRM), to quantify the candidate proteins in the blood samples. The method has been shown to be highly sensitive and specific. Most importantly, it is highly accurate, which makes it suitable to be used for evaluating protein biomarkers in a clinical study. The success of the study will identify biomarkers (blood molecular changes) via a less invasive procedure (blood v.s. muscle biopsy) and develop an accurate method to measure the changes of these biomarkers for evaluating therapeutic efficacy in future clinical trials.

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