Biomarkers of Facioscapulohumeral Muscular Dystrophy (FSHD)

Principal Investigator: Kathryn Wagner

This NIH-funded study is established to identify biomarkers for facioscapulohumeral muscular dystrophy (FSHD). FSHD patients and their unaffected first degree relative will undergo open muscle biopsy performed at the Johns Hopkins Outpatient Surgery Center under local anesthesia. Blood samples will be drawn from each subject to establish DNA and lymphhocyte repositories, as well as for FSHD A/B allele genotyping. A new focus on FSHD families with nonmanifesting carriers of the genetic signature will expand on the usefulness of our repository by providing DNA from blood, muscle biopsy tissue and cells derived from biopsies for investigating modifiers of FSHD pathology.  De-identified muscle and blood samples will be sent to the Senator Paul D. Wellstone FSHD Muscular Dystrophy Cooperative Research Center for storage, processing and distribution to multiple institutions involved in FSHD research. The biomaterials obtained at Kennedy Krieger are studied in multiple labs and are anticipated to significantly improve the molecular understanding of this enigmatic disease. Travel funds are available.