News & Events

Included discussion of upcoming FSHD clinical trials and biomarker studies by Dr. Lawrence Hayward

Including talks by the Utah and Nationwide Children’s Hospital groups, as well as several posters on our Center’s projects.

Interactive presentation by invited speaker Dr. Lawrence Hayward discussing upcoming FSHD clinical trials

Including “Lab to Life: FSHD” session, with Scott Harper and others. 

Including a Keynote talk by Russell Butterworth, “The history of FSHD in a large Utah kindred: The fruits of 80+ years of engagement”, as well as other talks by the Nationwide Children’s Hospital and UMass Chan groups, as well as several posters on our Center’s projects.  Special congratulations to Alec DeSimone, winner of Best Poster Award for “A Live-Cell Drug Screening Platform for FSHD Therapeutics” (A. DeSimone, A. Lek, M. Lek). [link] 

Including talks by the Boston Children’s Hospital, Nationwide Children’s Hospital, and UMass Chan groups, as well as several posters on our Center’s projects

Including “Lab to Life: What's New in LGMD, FSHD & DM” session with Katelyn Daman and others.

Interactive presentation by invited speaker Dr. Lawrence Hayward.

Agenda included prestations by the UMass Wellstone researchers and clinicians, as well as the FSHD Society, Fulcrum Therapeutics, and Dr. Rabi Tawil 

Including talks by the UMass Chan and Nationwide Children’s Hospital groups, as well as several posters on our Center’s projects. Special congratulations to G. Amini-Chermahini, winner of Best Poster award  for “An in-situ hybridization-based method for detecting DUX4 RNA expression in vitro” (G. Amini-Chermahini, A. Rashnonejad, S.Q. Harper). 

Congratulations to Lindsey Wallace and the Scott Harper lab at Nationwide Children’s Hospital for the publication of their paper: “Pre-clinical Safety and Off-Target Studies to Support Translation of AAC-Mediated RNAi Therapy for FSHD” to advance FSHD research towards therapy.

Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Mol Ther Methods Clin Dev. 2017 Dec 24;8:121-130. doi: 10.1016/j.omtm.2017.12.005. eCollection 2018 Mar 16. PMID: 29387734.

An R21 grant has been awarded to the labs of Drs. Charles Emerson and Michael Brehm at the UMMS to combine their expertise in FSHD muscle disease and immunology to develop a blood/ muscle xenograft mouse model of FSHD to investigate the role of innate immunity in FSHD muscle pathology and develop immunotherapies to block disease progression.

Dr. Lawrence Hayward, clinical scientist at the UMMS Wellstone Center, presented a paper entitled "Transcriptome heterogeneity in low-passage myogenic cells from individuals with facioscapulohumeral muscular dystrophy" at the Single Cell Analysis" meeting held in Cold Spring Harbor, NY, September 8-11, 2017.  This paper was a collaborative effort involving Drs. Jennifer Chen, Rene Maehr, and Charles Emerson at the UMMS.

The Wellstone Centers Networking Conference “Translating Science into Medical Therapies for Muscular Dystrophy” and was held at the UT Southwestern Muscular Dystrophy Research Center, Pickens Medical Education & Conference Center in Dallas, TX on September 28-29, 2017. The meeting was attended by advocacy groups, patients, and families and  directors and scientists from each of the six Wellstone Muscular Dystrophy Cooperative Research Centers, including the UMMS Wellstone. Center scientists shared research findings with the goal of advancing muscular dystrophy research to the clinic through building collaborations and sharing resources.

The authors of this timely review on the current progress in FSHD disease and therapeutic development are Drs. Alec DeSimone, Anna Pukula, and Angela Lek, postdoctoral fellows in the UMMS Wellstone Program. PMID: 28915324

Congratulations to the Wellstone two poster winners!  Dr. Angela Lek, postdoc from Dr. Lou Kunkel's lab, entitled "Using genome-wide CRISPR libraries to identify modifiers of FSHD",and Dr. Joceyln Eidahl, post doc from Dr. Scott Harper's lab, entitled "Protein chemistry of myotoxic DUX4" were both poster winners at the 2017 MDA Scientific Conference held in Washington D.C. on March 20-22, 2017

The MDA has awarded Dr. Charles Emerson's lab a grant entitled  iPSC-induced skeletal muscle progenitors to study human myogenesis and FSHD".  The project goals are to identify molecular modifiers of FSHD clinical severity through investigations of DUX4 function in induced pluripotent stem cells (iPSC) from infantile and adult onset subjects.