Overview

Introduction to Wellstone CRC

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The University of Massachusetts School of Medicine (UMMS) Wellstone Muscular Dystrophy Cooperative Research Center uniquely focuses its research and training programs on Facioscapulohumeral Muscular Dystrophy (FSHD). FSHD is one of the most prevalent myopathies, afflicting both children and adults. The mission of the UMMS Wellstone Center is to conduct research to reveal the underlying genetic and epigenetic mechanisms driving the muscle pathology of FSHD, leading to the development of novel therapeutics for this devastating disease.

Wellstone Center Goals

The UMMS Wellstone Center and its component research projects, collaborations and resource core, and its administrative and training cores are organized to meet current critical needs in the field of FSHD research. Our goals are to:

  • intensify research directed to identify FSHD disease genes and modifiers of disease severity and to understand their functions in the wide clinical variability in individuals with the genetic signature of FSHD;
  • develop and validate animal models of FSHD to enable pre-clinical research and therapeutic development;
  • expand clinical and molecular genetic investigations of FSHD individuals to better understand the underlying pathophysiology of muscle weakness;
  • establish bio-resources and promote data sharing to enable FSHD researchers and industry to engage in statistically-powered FSHD research and therapeutic development;
  • build partnerships with individuals affected by FSHD and their families and patient advocacy groups to support and participate in FSHD research and clinical trials;
  • establish partnerships with industry having tools and experience to pursue development of therapeutics;
  • increase collaborations and information exchange among FSHD researchers to enhance the pace of FSHD research; and
  • train the next generation of clinician scientists and researchers needed for development of therapeutics to treat FSHD.

Wellstone Center Research Accomplishments

Over the past five years, our Wellstone Center has pursued highly collaborative projects on the theme of “Biomarkers of FSHD for Therapeutics,” and established an FSHD Muscle Stem Cell Repository as a national and international resource.

Highlights of our accomplishments include:

  • Establishment of an FSHD Biorepository of muscle stem cells and muscle biopsies from 36 families with affected and unaffected family members.
  • Identification of FSHD families with members who are genetic carriers of FSHD.
  • Transcriptome studies to establish a myostatin inhibition biomarker signature in mouse model studies as a pre-clinical foundation for clinical trials with anti-myostatin drugs.
  • Statistically-powered transcriptome studies of FSHD muscle and stem cells to identify a unique FSHD disease biomarker signature.
  • Establishment of cell models for pre-clinical FSHD therapeutic development.
  • Establishment of novel humanized xenograft mouse models and a zebrafish model for pre-clinical FSHD therapeutic development.

Wellstone Center Leadership and Administration

The Center brings together a strong multidisciplinary team of talented and experienced clinician scientists, researchers and collaborators with expertise in FSHD and muscular dystrophy, partnering with biotech industry leaders with expertise in therapeutic development for muscular dystrophy and with patient advocacy leaders dedicated to the furthering of FSHD research towards therapies. The collaborative spirit and accomplishments of the Center and its investigators are highlighted by our publications over the past 5 years (see below). The Director and Co-Director, Drs. Charles Emerson and Louis Kunkel, lead this team. Both are accomplished researchers in muscle biology and disease and are experienced in the leadership of collaborative, multidisciplinary research teams and training programs.

Organizational Chart of the UMMS Wellstone Center

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