Core C: Cell Core

Principal Investigator: Charles P. Emerson

The Cell Core C is the heart of the FSHD-Wellstone research activities. This Core is responsible for the development and maintenance of biomaterials and reagents for Center investigators and the FSHD research community at-large. Every project of the Wellstone MD CRC draws from these Core resources. A FSHD tissue bank of blood and muscle (Aim 1) has been established from FSHD subjects and their unaffected first-degree family members, specifically recruited, screened and enrolled to provide high quality and highly relevant biological specimens for genotyping and molecular, gene expression and cellular studies to define FSHD pathology and identify FSHD disease biomarkers. The Cell and Molecular Lab (Aim 2) of the Core, located at UMMS, performs multiple functions, including the establishment of cultures of muscle cells from muscle biopsies and generation of immortalized clonal lines of myogenic cells. Additionally, evaluation of gene expression, biochemical, cell biological, proteomic and molecular data obtained from the relevant cell cultures and immortalized cell lines is being made available to the FSHD scientific community through the establishment of a national resource FSHD muscle cell repository. A public FSHD myoblast cell repository (Aim 3) has established of FSHD and control cells for distribution to the international FSHD research community. Finally the Bioinformatics Support Group (Aim 4) supports all projects as well as individual aspects of the Cell Core, to enable the conduct of experiments with sufficient statistical power to identify disease biomarkers of FSHD for use in clinical trials.


Charles P. Emerson, Jr., Ph.D.
Director Wellstone Program
Professor Cell and Developmental Biology and Neurology
University of Massachusetts Medical School
55 Lake Avenue North
Room S5-147
Worcester, MA 01655 USA
Office: (774) 455-1571
Lab: (774) 455-1570
Fax: (774) 455-1575

Kathryn Wagner, M.D., Ph.D.
Center for Genetic Muscle Disorders
The Kennedy Krieger Institute
Associate Professor
Department Neurology and Neuroscience
The Johns Hopkins School of Medicine
707 North Broadway, Room 400A
Baltimore, MD 21205 USA
(443) 923-9525
(443) 923-9545 fax