Investigator: Robert J Bloch PhD
Category: Research - Clinical
Recent studies from my lab have shown that a protein, called “SLC34A2” (not a name to trip off the tongue!) is readily detected in FSHD muscle but not in healthy muscle or other types of dystrophic muscle. We believe that SLC34A2 may be a potent biomarker for FSHD in both biopsies and in serum, and that it that has several advantages over other candidate proteins. Demonstrating the ability to detect SLC34A2 in serum could lead to a non-invasive way to study disease progression and to assess different treatments for FSHD now in development. Our research is designed to critically test the validity of using SLC34A2, in muscle and in serum, as a biomarker in future studies of FSHD.