Cell Core C is essential to the functioning of the Wellstone MD CRC. The consultants and participants supporting the primary participants of all cores and projects are both experts in their respective scientific and service areas, and renowned FSHD clinicians with significant track records in clinical trials and natural history of FSHD and muscular dystrophy. Three of the consultants are from different Wellstone MD CRCs (University of Washington, University of Rochester, and Children's National Medical Center), which helps reinforce inter-Wellstone synergy. The Wellstone MD CRC collaborators and consultants in Core C are:

• Kevin Flanigan, M.D., Center for Gene Therapy, The Research Institute, Nationwide Children’s Hospital, Columbus, Ohio, USA
• Stephen D. Hauschka, Ph.D., [University of Washington Wellstone MD CRC] Professor of Biochemistry
  University of Washington, Seattle Washington
• Richard T. Moxley, III, M.D., [University of Rochester Wellstone MD CRC and NIH Registry for FSHD/DM Patients and Families] Professor of Neurology and Pediatrics, and Director, University of Rochester Wellstone MD CRC
  University of Rochester, Rochester, New York
• Terence A. Partridge Ph.D., FMedSci, [CNMC DC Wellstone MD CRC] Researcher, Center for Genetic Medicine Research, Children's National Medical Center, Washington DC

The Wellstone MD CRC Projects 1-4 have extensive support from collaborators and participants who are experts in FSHD research, translational research and clinical trials as well as their respective scientific and service areas. The Wellstone MD CRC has received strong support from the entire FSHD and muscular dystrophy research and clinical community worldwide as depicted in letters of support. Additionally, Yi-Wen Chen, D.V.M., Ph.D., [CNMC DC Wellstone MD CRC] will provide PITX1/DUX4 mice and brings additional inter-Wellstone connections. The Wellstone MD CRC will draw from the strengths and expertise of existing prominent FSHD researchers, FSHD repositories, tissue collections and patient registries so as to not duplicate efforts and it will seek to maximize use of existing NIH research infrastructure. The Wellstone MD CRC integrates the top experts in FSHD DUX4/DUX4c (Belayew, Mons, Belgium), FSHD PITX1/DUX4 mouse models and transcription factors (Chen, CNMC), methylation and chromatin looping (Ehrlich, Tulane), FSHD genotyping (Moore, Iowa and Van Der Maarel, Leiden), clinicians with large families and founder effect populations (Flanigan, Utah), myogenesis, the largest NIH registry for FSHD (Moxley/Tawil, Rochester), leading experts in stem cells and mouse models (Partridge, CNMC and Hauschka, Washington) , FRG1 Mice (Tupler, UMass/Modena), extensive work in proteomics and mu-crystallin (Reed/Bloch, Maryland) and a biotechnological clinical trial using a new class of muscle building compound (Seehra/Sherman, Acceleron). The Wellstone MD CRC application has direct active collaborations with five (5) of six (6) existing Wellstone MD CRCs.

The collaborating investigators chosen for the Wellstone MD CRC are the most senior, well recognized and experienced investigators in FSHD. Alexandra Belayew, Ph.D., Professor Laboratory Biologie Moléculaire, Université de Mons-Hainaut, Mons, Belgium is the leading expert in DUX4 gene expression and is a past NIH R21 grantee for FSHD and has multiple publications in top tier journals. Yi-Wen Chen, D.V.M., Ph.D., [CNMC DC Wellstone MD CRC] Assistant Professor CNMC and George Washington University, Children's National Medical Center, Washington, DC is the leading expert in DUX4/PITX1 array profiling and atrogin pathway studies in FSHD, she will provide the PITX1/DUX4 mice. Dr. Chen is currently funded by a R01 on FSHD. Melanie Ehrlich, Ph.D., Professor, Department of Biochemistry and Human Genetics, Tulane Medical School, New Orleans, Louisiana is the leading expert on methylation, HSS, and chromatin structure and looping models in FSHD and is currently funded by the NIH with an R01 for FSHD. Rossella Tupler, M.D., Ph.D., Research Assistant Professor, Program in Molecular Medicine and Howard Hughes Medical Institute Program in Gene Function and Expression University of Massachusetts Medical School, Worcester, Massachusetts will provide FRG1 mice, and has published leading research in FSHD gene mis-regulation and FSHD mouse models. Dr. Tupler as a clinician has substantial access to 700 patient families in Italy and is currently funded by the NIH with an R01 for FSHD. Silvere van der Maarel, Ph.D., Professor of Epigenetics, Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands and his group are a leading authority for genomics and epigenetic studies and have published extensively on FSHD. Dr. van der Maarel is currently funded by the NIH for a R21 on FSHD and a R21 on OPMD.

An important part of the work of the Wellstone MD CRC is to engage collaborations and co-funding of projects from industry, institute, university and patient organizations. The Wellstone MD CRC currently works with both Acceleron Pharma [Clinical Trial — Myostatin Inhibitors] and Genzyme / Myosix [Myoblast / Muscle Stem Cell Production] to commercialize therapies for muscular dystrophy. The Coriell Repository [Cell and DNA Repository], Harvard University Genetic Modification Facility (HUGMF) [Mouse Housing/Transgenic Facility], NICHD Brain and Tissue Bank for Developmental Disorders [Tissue Repository] are biomaterials repositories that the Wellstone will use to deposit materials either directly or after study and processing. The Wellstone has also contacted the Jackson Laboratory about depositing mice from the Wellstone MD CRC mouse projects. The FSH Society [FSHD Volunteer Health Agency/FSHD Patient Organization] is unique and helps to bring patients to the Wellstone MD CRC through education and advocacy. Daniel Perez serves as Director of the Office of Patient Communication and Liaison (OPCL), which is also part of the Wellstone MD CRC participating, collaborating and consulting Investigators.