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Abstracts, Talks, and Poster Presentations by the Wellstone Group

2022

“Innate Immunity Model of FSHD Muscle Pathology Activates Complement Genes”. K. Daman, J. Yan, O.D. King, M. Brehm, C.P. Emerson Jr. Abstract selected for poster presentation, FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Generation of a craniofacial muscle model of FSHD from iPSCs”. D.  Guo, O. King, L. Hayward, C.P. Emerson Jr.” Abstract selected for poster presentation, FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Improving FSHD RNAi gene therapy using myotropic MyoAAVs” L. Wallace, T. Riley, M. Guggenbiller, G. Amini Chermahini, S. Harper. Abstract selected for poster presentation, FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Identification and targeting of hypoxia signaling for translational potential in facioscapulohumeral muscular dystrophy”.  J. Cohen, V.  Ho, A. Desimone, M. Lek, A. Lek. Abstract selected for poster presentation, FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Nanopore Sequencing Reveals Size-Dependent Methylation Gradients in D4Z4 Repeat Arrays”. R. Butterfield, D.M Dunn, B.O. Duvall, S.Moldt, B. Otterud, K. Wong, R.B. Weiss. Presentation at FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Investigation of Human Bone Marrow Mesenchymal Stem Cell-Derived Extracellular Vesicles as Therapeutic Agents for Facioscapulohumeral Muscular Dystrophy (FSHD)”. L. Wallace, S. Harper, N. Saad. Presentation at FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“AAV-CRISPR-Cas13 Gene Therapy for FSHD: DUX4 Gene Silencing Efficacy and Immune Responses to Cas13b Protein”.  A. Rashnonejad, G. Amini-Chermahini, N. Taylor, A. Fowler, E. Kraus, O. King, S. Harper. Presentation at FSHD Society International Research Congress, Orlando, FL. June 16-17, 2022.

“Lipid-conjugated DUX4-targeting siRNA therapeutic to treat FSHD”. K. Daman, J. Yan, J. Alterman, O.D. King, A. Khvorova, C.P. Emerson Jr. Abstract selected for poster presentation, RNA Therapeutics: From Concept to Clinic. UMass Chan Medical School, Worcester, MA. June 2022.

“iPSC-induced Human Myoblasts”. C.P. Emerson, Jr. Developmental Disease Models and Mechanisms Symposium. 2022.

“Immune-Muscle Xenograft Model for FSHD Therapeutic Development”.  K. Daman, C.P. Emerson, Jr. SolveFSHD. 2022.

“FSHD Therapeutics”. K. Daman, C.P. Emerson, Jr. Sanofi. 2022.

“RNA Therapeutics to treat FSHD”. K. Daman, C.P. Emerson, Jr. Eli Lilly. 2022.

“DUX4 inhibition by AAV.CRISPR-Cas13b in FSHD mouse models”. A. Rashnonejad, G. Amini-Chermahini, N. Taylor, SQ. Harper. 23rd Meeting of the American Society of Gene and Cell Therapy. May 12-15, 2022. Virtual.

“Development of an AAV-based gene therapy for CMT1B”. A. Rashnonejad. CMTA Star Advisory Board Meeting,  Miami, FL. May 12-13, 2022 

“Muscle formation, maintenance, regeneration, and pathology”. M. Lambert. EMBO workshop, April 2022.

“Gene Therapy for CMT1B”. A. Rashnonejad. Technology Showcase, Nationwide Children’s Hospital Office of Technology commercialization. Columbus, Ohio. March 2, 2022.

“Gene editing therapeutic development for limb girdle muscular dystrophy type R7”. K. Daman. CRISPR Supergroup seminar series. UMass Chan Medical School, Worcester. MA. February 4, 2022.

“iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling”. D. Guo. Neurology Nexus talk. UMass Chan Medical School, Worcester. MA. January 4, 2022. 

2021

“Novel siRNA muscle targeting platform: A potential treatment for FSHD”. A. Abdallah, K. Daman, C.P. Emerson, Jr. MDA Investment Summit. 2021.

“Application of CRISPR Screening for Therapeutic Discovery in Facioscapulohumeral Muscular Dystrophy (FSHD)”. J. Cohen. Genetics Department Seminar Series, Yale, New Haven, CT. 2021.

“FSHD 101”.  J. Cohen. FSHD Society GenZ of FSHD Chapter Meeting. 2021.

“Targeted Treatments for Facioscapulohumeral Muscular Dystrophy”.  R. Knox. Child Neurology Department Grand Rounds, Washington University School of Medicine, St. Louis, MO. 2021

“Targeted Treatments for Facioscapulohumeral Muscular Dystrophy”. R. Knox. Child Neurology Department Grand Rounds, Texas Children’s Hospital. 2021. Virtual.

“Analysis of Pain in the ReSolve Cohort”. R. Knox. FSHD Clinical Trial Research Network Investigator Meeting, Richmond, VA. 2021.

“Pediatric Facioscapulohumeral Muscular Dystrophy”. R. Knox. Child Neurology Neuroclinical Conference, Nationwide Children’s Hospital.  Columbus, OH. 2021.

“Post-translational modifications of DUX4.” R. Knox. Muscle Study Group Annual Conference. 2021. Virtual.

“AAV9-microRUNA mediated gene silencing improves the phenotype of a CMT1A mouse model”. M. Stavrou, A. Kagiava, S. Choudury, J. Richter, C. Tryfonos, C. Christodoulou, SQ Harper, K.A Kleopa. Peripheral Nerve Society. 2021. Virtual.

“FSHD”. C.P. Emerson, Jr., S.A. Wolfe, A. Khvorova, Biomarin. 2021.

“Lipid-conjugated DUX4-targeting siRNA to treat FSHD”. K. Daman. Neurology Nexus seminar series. UMass Chan Medical School, Worcester, MA. November 2021.

“Targeting DUX4 Post-translational Modifications in vitro Protects Against DUX4-mediated Toxicity”. R. Knox. FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“Human miRNA mir-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy”. N. Saad. FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“Identification and Targeting of Hypoxia signaling for Translational Potential in Facioscapulohumeral muscular dystrophy”. J. Cohen. FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“Translating DUX4-targeted RNAi-based gene therapy for FSHD”. L. Wallace. FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“Lipid-conjugated DUX4-targeting siRNA therapeutic to treat FSHD”. K. Daman, J. Yan, J.C.J. Chen, K.R. Wagner, J. Alterman, O.D. King, A. Khvorova, C.P. Emerson. Jr. Abstract selected for platform presentation, FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“The history of FSHD in a large Utah Kindred: The fruits of >80 years of engagement”.  R. Butterfield. Invited speaker. FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“A Live-Cell Drug Screening Platform for FSHD Therapeutics”. A. DeSimone, A. Lek, M. Lek. Poster: FSHD Society International Research Congress. June 24-25, 2021. Virtual.

“Duchenne Muscular Dystrophy: from bedside to emerging therapeutics; Gene editing therapeutics for DMD”. C.P. Emerson, Jr. Neuroscience of Disease Forum, UMass Chan Medical School, Worcester, MA. January 29, 2021.

2020

“Gene Repair Approaches for LGMD2i and LGMD2g: Understanding CRISPR”. S.A. Wolfe, C.P. Emerson, Jr. CMD Patient Meeting. 2020.

“Emerson lab in vitro and in vivo assays for FSHD drug development”. K. Daman, A. DeSimone, C.P. Emerson, Jr. Mitobridge. 2020

“Single-cell transcriptomes in facioscapulohumeral muscular dystrophy”. L.J. Hayward, D. Guo, O.D. King, K.R. Wagner, A.G. Bang, C.P. Emerson Jr. 25th Congress of the World Muscle Society. September 30 - October 1, 2020. Virtual. Abstract in: Neuromuscular Disorders 30(1): S113-S114 (2020).

“What’s new in FSHD research? Modeling the innate immune response to FSHD muscle using an immune/muscle xenograft mouse”. K. Daman, J. Yan, J.C.J. Chen, J. Windelborn, K.R. Wagner, O.D. King, M. Brehm, C.P. Emerson. Jr. MDA Clinical and Scientific Conference. September 18, 2020. Virtual.

“DUX4-targeted RNAi-based gene therapy for FSHD” L. Wallace, G. Amini-Chermahini, A. Fowler, S. Choudury, K. Kazimir, T. Riley, SQ Harper. FSHD Society International Research Congress. June 25-26, 2020. Virtual.

“Role of NR boxes 1 and 2 on the co-repressor activity of DUX4 on the human progesterone nuclear receptor”. J. Quintero, N.Y. Saad, S. Pagnoni, A. Rosa. FSHD Society International Research Congress.  June 25-26, 2020. Virtual.

“Single-cell transcriptomes in facioscapulohumeral muscular dystrophy”. L.J. Hayward, D. Guo, O.D. King, K.R. Wagner, A.G. Bang, C.P. Emerson Jr. FSHD Society International Research Congress. June 25-26, 2020. Virtual.

“Using a CRISPR Loss-of-Function Screen to Identify Therapeutic Compounds for Facioscapulohumeral Muscular Dystrophy”. J. Cohen. FSHD Society International Research Congress. June 25-26, 2020. Virtual.

“Hyaluronic Acid Signaling Regulates DUX4 Protein and Activity in a Cellular Model of Facioscapulohumeral Muscular Dystrophy”. A.M. DeSimone, A. Lek, K. Woodman, S. Huang, S. Pajusalu, K. Wagner, C.P. Emerson Jr., M. Lek. FSHD Society International Research Congress. June 25-26, 2020. Virtual.

“A combined ex vivo and xenograft pipeline for FSHD drug development”. K. Daman, J. Yan, J.C.J. Chen, O.D. King, K.R. Wagner, C.P. Emerson. Jr. Abstract selected for platform presentation, FSHD Society International Research Congress, June 25-26, 2020. Virtual.

“FSHD Circulating Biomarker Virtual Workshop: gene expression analysis”. O.D. King. FSHD Society Circulating Biomarker Workshop. June 3, 2020. Virtual.

“Investigation of the natural miRNA miR-675 as a prospective RNAi-based gene therapy product for Facioscapulohumeral muscular dystrophy (FSHD)”. N.Y. Saad, G. Amini-Chermahini, S.Q. Harper. 23rd Meeting of the American Society of Gene and Cell Therapy. May 12-15, 2020. Virtual.

Engineering More Efficient Therapeutic miRNAs for FSHD Gene Therapy”. N.Y. Saad, N.K. Pyne, J. Copeland, S.Q. Harper 23rd Meeting of the American Society of Gene and Cell Therapy. May 12-15, 2020. Virtual.

“Preclinical Advances in the Emerson lab”.  K. Daman. UMMS Wellstone Center/FSHD New England patient meeting, Worcester, MA. January 12, 2020.

2019

“Wellstone biorepository and assays for FSHD therapeutic development". K. Daman, C.P. Emerson, Jr. Flagship VL59. 2019.

“Development of a blood/muscle xenograft innate immunity model of FSHD muscle pathology”. K. Daman. Biennial Wellstone Centers Meeting, Rochester, NY. November 20-22, 2019.

“Identification of the hyaluronic acid pathway as a novel therapeutic target for facioscapulohumeral muscular dystrophy”. A.M. DeSimone, J. Leszyk, K. Wagner, C.P. Emerson Jr. Biennial Wellstone Centers Meeting, Rochester, NY. November 20-22, 2019.

“An Innate Immunity Model of FSHD Muscle Pathology”. K. Daman, J. Yan, S. Jangalwe, J.C.J. Chen, J. Windelborn, O.D. King, K.R. Wagner, M. Brehm, C.P. Emerson. Jr. Abstract selected by the organizing committee for a talk. Biennial Wellstone Centers Meeting, Rochester, NY. November 20-22, 2019.

“RNAscope for detecting DUX4 mRNA expression”. G. Amini-Chermahini. Wellstone Center Retreat, Worcester, MA. November 13-14, 2019.

“Generation of iPSC-induced myoblast cell lines for investigations of muscle disease and therapeutics”. D. Guo. Wellstone Center Retreat, Worcester, MA. November 13-14, 2019.

“Zebrafish modelling of FSHD”.  T. Zhang. Wellstone Center Retreat, Worcester, MA. November 13-14, 2019.

“Rapamycin (mTOR) inhibitors as FSHD drugs for clinical trials”.  J. Cohen. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“FAPs and the progression of FSHD myopathy”.  C. Serra. Wellstone Center Retreat, Worcester, MA. November 13-14, 2019.

“Pathway-specific FSHD drugs”. S. Cao, K. Daman, L. Hayward, C. Emerson. Wellstone Retreat, Worcester, MA. November 13-14, 2019.

“A stem cell xenograft model of FHSD”. J. Yan. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“Genome-wide CRISPR screens to identify druggable pathways for FSHD therapeutics”. A. Lek. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“hiPSC modeling of FSHD disease severity”. D. Guo. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“Modeling the role of the innate immunity in FSHD muscle pathology in a blood/muscle xenograft mouse”. K. Daman. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“Pathway specific drugs and siRNAs for FSHD therapeutics”. K. Daman. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“FSHD Zebrafish models for Drug Discovery”. Y.T. Zhang, A. Lek, A. Pakula, H. Mitsuhashi, J. Widrick, J. Connor, M.K. Lambert, L. Kunkel. Wellstone Center Retreat. Worcester, MA. November 13-14, 2019.

“An Innate Immunity Model of FSHD Muscle Pathology”. K. Daman, J. Yan, S. Jangalwe, J.C.J. Chen, J. Windelborn, O.D. King, K.R. Wagner, M. Brehm, C.P. Emerson. Jr. Abstract selected for platform presentation, 5th Ottawa International Conference on Neuromuscular Disease and Biology. Ottawa, Ontario, Canada.October 17-19, 2019.

“Identification of the hyaluronic acid pathway as a novel therapeutic target for facioscapulohumeral muscular dystrophy”.  A.M. DeSimone, J. Leszyk, K. Wagner, C.P. Emerson Jr. 5th Ottawa International Conference on Neuromuscular Disease and Biology. Ottawa, Ontario, Canada. October 17-19, 2019.

“Identification of the DUX4-targeted miRNome from a library of 1,881 natural human miRNAs”.  N.Y. Saad, S.Q. Harper The World Muscle Society 2019 Congress. Copenhagen, Denmark. October 1-5, 2019.

“iPSC-induced skeletal myoblast lineages for muscle disease modeling”. D. Guo, K. Daman, J.C.J. Chen, J. Yan, M-J Shi, A. Rickard, M.H. Bennett, A. Kiselyov, K.R. Wagner, O.D. King, A.G. Bang, L.J. Hayward, C.P. Emerson Jr. Frontiers in Myogenesis Meeting,  San José, Costa Rica. September 23-28, 2019.

“Preclinical Gene Therapy studies for FIG4/CMT4J and GARS/CMT2D”. K.H. Morelli, M. Presa, L. Bogdanick, R.M. Bailey, S.J. Gray, N.K. Pyne, L.M. Wallace, A.M. Fowler, S.Q. Harper, C.M. Lutz, R.W Burgess. Peripheral Nerve Society Meeting, Genoa, Italy. June 22-26, 2019. 

“Identification of the hyaluronic acid pathway as a novel therapeutic target for facioscapulohumeral muscular dystrophy”. A.M. DeSimone, J. Leszyk, K. Wagner, C.P. Emerson Jr.  FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. 

“Identification of a new mechanism regulating the expression of facioscapulohumeral muscular dystrophy DUX4 gene via the miRNA pathway”. N.Y. Saad, S.Q. Harper. FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. 

“An Innate Immunity Model of FSHD Muscle Pathology”. K. Daman, J. Yan, S. Jangalwe, J.C.J. Chen, J. Windelborn, O.D. King, K.R. Wagner, M. Brehm, C.P. Emerson. Jr. Abstract for poster presentation, FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. 

“The role of Estrogen Receptor Related beta (ESRPB) in facioscapulohumeral muscular dystrophy-1 (FSHD-1)”. A. Pakula, Y. Sytnikova, S. Maiullari, M. Lambert, E. Teveroni, J. Widrick, H. Mitsuhashi, F. Rahimov, O. King, S. Won Kim, J.M. Spinazzola, K. M. Gwilt, J. Conner, G. Deidda, F. Moretti, M.L. Bulyk, L.M. Kunkel. FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. 

“Single-cell transcriptomics reveals DUX4 expression during early stages of myogenesis in FSHD-1”.  A. Pakula, O. King, M. Lambert, E. Gussoni, L. Kunkel. FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. 

“An in-situ hybridization-based method for detecting DUX4 RNA expression in vitro”. G. Amini-Chermahini, A. Rashnonejad, S.Q. Harper. FSHD Society International Research Congress, Marseille, France. June 19-20, 2019. (Poster prize winner).

“iPSC-induced skeletal myoblast lineages for muscle disease modeling”. D. Guo, K. Daman, J.C.J. Chen, J. Yan, M-J Shi, A. Rickard, M.H. Bennett, A. Kiselyov, K.R. Wagner, O.D. King, A.G. Bang, L.J. Hayward, C.P. Emerson Jr.  Myogenesis Gordon Research Conference. Lucca Barga, Italy. June 9-14, 2019. 

“DUX4 miRNA silencing with CRISPR-Cas13 gene therapy as a prospective treatment for Facioscapulohumeral Muscular Dystrophy”. G. Amini-Chermahini, A. Rashnonejad, S.Q. Harper. 21st Annual ASGCT Meeting, Washington DC. April 29 - May 2, 2019.

“An in-situ hybridization-based method for detecting DUX4 RNA expression in vivo”. G. Amini-Chermahini, A. Rashnonejad, S.Q. Harper. MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“DUX4 miRNA silencing with CRISPR-Cas13 gene therapy as a prospective treatment for Facioscapulohumeral Muscular Dystrophy”.  A. Rashnonejad, G. Amini-Chermahini, S.Q. Harper. MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“Identification of the hyaluronic acid pathway as a novel therapeutic target for facioscapulohumeral muscular dystrophy”. A.M. DeSimone, J. Leszyk, K. Wagner, C.P. Emerson Jr.  MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“Modeling human skeletal muscle development and FSHD disease with induced secondary myoblast”. D. Guo, K. Daman, J. Chen, J. Yan, O.D. King, L.J. Hayward, C.P Emerson Jr. MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“Insights from single-cell transcriptome analysis of myogenic cells from individuals with FSHD”. D. Guo, J. Chen, R. Maehr, K. Wagner, O. King, C. Emerson, L. Hayward. MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“Human muscle xenograft model for muscular dystrophy therapeutic development”. K. Daman, J. Yan,. D. Guo, J. Chen, J. Windelborn, A. Bang, O. King, K. Wagner, C. Emerson Jr.  MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

Single-cell Transcriptomes of Myogenic Cells from Individuals with Facioscapulohumeral Muscular Dystrophy”. D. Guo, O.D. King, C.P Emerson Jr, L.J. Hayward. 2019 MDA Clinical and Scientific Conference. Orlando, FL. April 13-17, 2019.

“Applying genome-wide CRISPR screens for therapeutic discovery in FSHD”.  A. Lek,  Myology Conference, Bordeaux, March 28, 2019.

“Applying genome-wide CRISPR screens for therapeutic discovery in FSHD”.  A. Lek, Peking University First Hospital, Beijing. March 18, 2019.

“Applying genome-wide CRISPR screens for therapeutic discovery in FSHD”.  A. Lek, Hong Kong Polytechnic University, Hong Kong. March 15, 2019.

“Single-cell Transcriptomes of Myogenic Cells from Individuals with Facioscapulohumeral Muscular Dystrophy.”  D. Guo, O.D. King, C.P Emerson Jr, L.J. Hayward. Keystone Symposia Single Cell Biology conference, Breckenridge, CO.   January  13-17, 2019. 

2018

“Restoration of functional glycosylation of a-Dystroglycan in FKRP deficient iPSCs using CRISPR-Cas9”. S. Iyer, D. Guo, S. Suresh, J. Chen, B.P. Bang, C.P. Emerson, Jr., S.A. Wolfe. ASGCT. 2018.

“Cell Xenograft Model for FSHD Therapeutics”. K. Daman, C.P. Emerson, Jr. Fulcrum Therapeutics. 2018.

“The role of estrogen regulation in FSHD-1”.  A. Pakula, Y. Sytnikova, H. Mitsuhashi, F. Rahimov, O. King, S. Won Kim J. Spinazzola, M. Lambert, K.M. Gwilt, M. L. Bulyk, L.M. Kunkel. Genetics and Genomics Retreat, Boston, MA. 2018.

“Targeting a DUX4-interacting Protein with 4-methylumbeliferone Inhibits FSHD Biomarker Expression and Rescues DUX4-mediated Cytotoxicity”. A.M. DeSimone, G. Bibat, K. Wagner, G. Stadler, W.E. Wright, J. Leszyk, C.P. Emerson Jr. Wellstone Annual Meeting. November 21, 2018.

“Wellstone Center for FSHD therapies and patient care”.  L. Hayward. UMMS Wellstone Center/ New England FSHD Patient Meeting, Worcester, MA. November 4, 2018.

“Next Generation RNA Therapeutics for FSHD”. K. Daman.  UMMS Wellstone Center/ New England FSHD Patient Meeting, Worcester, MA. November 4, 2018.

“Emerging therapeutic approaches for FSHD”. S.Q. Harper. Invited keynote speaker. 23rd World Muscle Society Conference, Mendoza, Argentina. October 5, 2018.

“Regulation of Facioscapulohumeral muscular dystrophy candidate protein DUX4”. J.O. Eidahl, S. Harper. 23rd World Muscle Society Conference, Mendoza, Argentina. October 5, 2018.

“An FSHD Cell Xenograft Assay for Drug Development”. K. Daman, J. Yan, J.C.J. Chen, O.D. King, K.R. Wagner, C.P. Emerson. Jr. Abstract selected for platform presentation, FSH Society International Research Congress, Las Vegas, NV. June 8-9, 2018.

“Identification of a DUX4 interacting protein and the hyaluronic acid pathway as novel therapeutic targets for FSHD”. A.M. DeSimone, J. Leszyk, K. Wagner, C.P. Emerson Jr. FSH Society International Research Congress, Las Vegas, NV. June 8-9, 2018.

2017

“Some hierarchical Bayesian models motivated by FSHD research”. O.D. King. Bioinformatics and Computational Biology seminar, Worcester Polytechnic Institute (WPI), Worcester, MA. December 8, 2017.

"Transcriptome heterogeneity in low-passage myogenic cells from individuals with facioscapulohumeral muscular dystrophy".  L. Hayward, J. Chen, R. Maehr, CP Emerson Jr. Single Cell Analysis, Cold Spring Harbor, NY. November 8-11, 2017.

"Generation of a new, inducible model of FSHD that develops overt myopathic phenotypes".  C. Giesige, K.N. Heller, L.M. Wallace, J.S. Domire, D. Mukweyi, J.O. Eidahl, S.E. Garwick-Coppens, S.M. Guckes, L.R. Rodino-Klapac, and S.Q. Harper.  World Muscle Society Congress, St. Malo, France. October 3-7, 2017.

"Developing models and molecular therapies for FSHD".  S.Q. Harper.  Walter and Elisa Hall Institute of Medical Research (WEHI) and University of Melbourne, Melbourne, Australia. September 22, 2017.

"RNAi therapy for FSHD".  S.Q. Harper. FSHD Global Scientific Advisory Board, Sydney, Australia. September 18, 2017.

"Emerging molecular therapies for FSHD".  S.Q. Harper. FSHD Global Science Week, Global Science Week, Grand Rounds, Auckland City Hospital, Department of Neurology, Auckland, New Zealand. September 17, 2017.

"Transcriptome heterogeneity in low passage myogenic cells from individuals with facioscapulohumeral muscular dystrophy". L. Hayward, J. Chen, R. Maehr, CP Emerson Jr. Single Cell Analysis, Cold Springs Harbor, NY. September 8-11, 2017

"Biomarkers and therapeutic models of FSHD". C. P. Emerson and K. Wagner.  Syros Pharmaceutical, Cambridge, MA. September 6, 2017.

"Genome-wide CRISPR screen to identify DUX4 modulating pathways". A. Lek, Y. Zhang, M. Lek, J. Criscione, A. Pakula, O. King, P. Jones, L. Kunkel.  4th Ottawa International conference on neuromuscular disease and biology, Ottawa. Canada. September 5-7, 2017.

"Developing models and therapies for FSHD".  S.Q. Harper.  University of Kansas, Department of Neurology and Neurosurgery, Grand Rounds, Kansas City, MO. August 18, 2017.

"Developing the first mouse model of FSHD that recapitulates myopathy-related phenotypes". C. Giesige, K.N. Heller, L.M. Wallace, J.S. Domire, D. Mukweyi, J.O. Eidahl, S.E. Garwick-Coppens, S.M. Guckes, L.R. Rodino-Klapac, and S.Q. Harper.  Association for Clinical and Translational Science, Washington, D.C. April 2017.

"Using genome-wide CRISPR libraries to identify modifiers of FSHD".  A. Lek, M. Lek, J. Criscione, A. Pakula, Y. Zhang, O. King, P. Jones, L. Kunkel. MDA Scientific Conference. Arlington, VA. March 19-22, 2017.

"Translating DUX4-targeted RNAi therapy for FSHD". L.M. Wallace, D.A. Griffin, N.K. Pyne, J.s. Domirre, L.R. Rodino-Klapac, and S.Q. Harper.  MDA Scientific Conference. Arlington, VA. March 19-22, 2017.

"Identification and Characterization of DUX4 Post-Translational Modifications". J.O. Eidahl, M.E. Hoover, O.E. Branson, L. Zhang, M. Freitas, S.Q. Harper.  MDA Scientific Conference. Arlington, VA. March 19-22, 2017.

"Mir-675 reduces DUX4 expression and confers resistance to DUX4 toxicity in FSHD myoblasts: a framework to define the DUX4-targeted miRNome". N.Y. Saad, S. Garwick-Coppens, S.Q. Harper. MDA Scientific Conference. Arlington, VA. March 19-22, 2017.

"A personalized gene therapy approach for CMT2D". K.H. Morelli, N. Pyne, A. Fowler, J.S. Domire, S.Q. Harper, and R.W. Burgess. MDA Scientific Conference. Arlington, VA. March 19-22, 2017.

2016

“Third Generation Gene Silencing Oligonucleotide Therapeutics for FSHD”. J.C. Chen, J. Yan, L. Bhagat, W. Jiang, S. Agrawal, K.R. Wagner, and C.P. Emerson, Jr.  FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

"Physiological Characterization of Muscles From FSHD Patients With Early Stage Disease". J. Udaka T. Kitizawa, O. King, J. Leszyk, K. Wagner, and C. P. Emerson, Jr. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11 2016.

"Translating DUX4-targeted RNAi therapy for FSHD". L.M. Wallace, D. Griffin, N. Pyne, J.S. Domire, L. Rodino-Klapac, and S.Q. Harper. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

"Genome-wide screen to identify genetic modifiers of FSHD". A. Lek, M. I. Lek, O. King, P. Jones, L. Kunkel.
FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

"miR-675 reduces DUX4 expression and confers resistance to DUX4 toxicity in FSHD myoblasts: a framework to define the DUX4-targeted miRNome". N. Saad, s. Garwick-Coppens, and S.Q. Harper. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

"Bone health in Facioscapulohumeral muscular dystrophy: a cross-sectional study". H. Chagarlamudi, A Corbett, M. Stoll, G. Bibat, C. Grosmann, C. Matichack, N. Stinson, J. Shapiro, K.R. Wagner. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

C1QBP Inhibits DUX4-dependent gene activation and can be targeted with 4MU". A. M. DeSimone, G. Bibat, K.R. Wagner, G. Stadler, W. E. Wright, J. Leszy, and C. P. Emerson Jr. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. November 10-11, 2016.

"Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4".  J.O. Eidahl, C.R. Giesige ,J.S. Domire, L.M. Wallace, A. M. Fowler, S.M. Guckes, S.E. Garwick-Coppens, P. Labhart, S.Q. Harper.  FSHD Wellstone Meeting, Worcester, MA. September 2016.

"A transgenic zebrafish model for FSHD".  A. Pakula, A. Lek, H. Mitsuhashi, F. Rahimov, V. Gupta, J. Criscione, L. Mead, L. Kunkel. FSHD Wellstone Meeting, Worcester, MA. September 2016.

"iPSC-derived myogenic progenitors for studies of human myogenesis and disease modeling".  C.P. Emerson, Jr., M.J. Shi, J.C. Chen, J. Yan, E. Rozsahegyi, L. Caron, A. Kiselyov, U. Schmidt, K.R. Wagner, H. Zhou, and A. Bang.  From Stem Cells to Human Development Meeting, Southbridge, MA.  September 25-28, 2016.

"iPSC induction of myogenic progenitors for human myogenesis and disease studies".  C.P. Emerson, Jr., M.J. Shi, J.C. Chen, J. Yan, E. Rozsahegyi, L. Caron, A. Kiselyov, U. Schmidt, K.R. Wagner, H. Zhou, and A. Bang.  FASEB Skeletal Muscle Satellite Cells and Regeneration, Keystone Resort Conference Center, Dillon, CO. July 24-29, 2016

"DUX4 inhibition as a therapeutic strategy for FSHD".  S.Q. Harper. New Directions in Skeletal Muscle Biology Meeting, Orlando, FL.  June 29 - July 2, 2016.

"DUX4 inducible zebrafish model for high-throughput drug screen".  A. Pakula, A. Lek, H. Mitsuhashi, F. Rahimov, V. Gupta, J. Criscione, L. Mead, L. Kunkel  New Directions in Skeletal Muscle Biology Meeting, Orlando, FL.  June 29 - July 2, 2016.

"Genome-wide screen to identify genetic modifiers of FSHD".  A. Lek, M. l Lek, O. King, P. Jones, L. Kunkel.  New Directions in Biology and Disease of Skeletal Muscle Meeting,  Orlando, FL. June 29 - July 2, 2016.

"iPSC modeling of human myogenesis and muscle disease". M.J. Shi, J.C. Chen, E. Rozsahegyi, C. Spencer, J. Yan, H. Zhou, L. Caron, A. Kiselyov, U. Schmidt, A. Bang, K.R. Wagner, C.P. Emerson, Jr.  Molecular Mechanisms Modulating Skeletal Muscle Development and Homeostasis in Health and Disease", Pacific Grove, CA. June 6-11, 2016.

"Toxicology for DUX4-targeted microRNAs".  L.M. Wallace, D. Griffin, N. Pyne, J.S. Domire, L. Rodino-Klapac, and S.Q. Harper. American Society of Gene and Cell Therapy Annual Meeting, Washington, D.C. May 4-7, 2016.

"RNAI therapy for dominant LGMD1A".  L.M. Wallace, C.R. Giesiger, D.A. Griffin, L.R. Rodino-Klapac, and S.Q. Harper.  American Society of Gene and Cell Therapy Annual Meeting, Washington, D.C. May 4-7, 2016.

"iPSC modeling of muscle development and disease". C.P. Emerson. UT Southwestern, Dallas, TX, April 28, 2016.

"Translating FSHD". S.Q. Harper. Children's Hospital of Pennsylvania/University of Pennsylvania (CHOP/UPENN) Gene Therapy and Vaccines section, Philadelphia, PA. April 4, 2016.

"Facioscapulohumeral Dystrophy (FSHD)". L. Kunkel. Biogen, Cambridge, MA. March 9, 2016.

"DUX4-targeted RNAi therapy for FSHD". S.Q. Harper. Friends of FSH Research Summit, Portland, OR. February 29 - March 1, 2016.

"The use of humanized mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for CMT2D".  K.H. Morelli, J.S. Domire, N. Pyne, S.Q. Harper, and R.W. Burgess.  Human Genome meeting, Houston, TX. February 28 - March 2, 2016.

"Understanding pathogenesis and developing therapies for FSHD". S.Q. Harper. University of Missouri, Department of Molecular Microbiology and Immunology, Columbia, MO. February 23, 2016.

2015

"DUX4-targeting antisense therapy development in a human muscle xenograft model for FSHD".  A.M. DeSimone, G. Bibat, K. Wagner, W.E. Stadler, T. Zhang.  FSHD International Research Consortium & Research Planning Meeting, Boston, MA. October 5-6, 2015

"Toxicology for DUX4-targeted microRNAs". L.M. Wallace, J.S. Domire, C.R. Giesige, and S.Q. Harper. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. October 5-6, 2015.

"The Translocation of DUX4 and DUX4c during myoblast differentiation allows their association with nucleo-cytoplasmic proteins associated with mRNP granules". E. Ansseau, J.O. Eidahl, C. Lancelot, A. Tassin, C. Matteotti, C. Yip, J. Liu, B. Leroy, C. Hubeau, C. Gerbaux. S. Cloet, A Wauters, S. Zorbo, P. Meyer, I. Pirson, D. Laoudj-Chenivesse, R. Wattiez, S.Q. Harper, A. Belayew, and F. Coppee. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. October 5-6, 2015

"Defining the functional overlap between mouse Dux and human DUX4". J.O. Eidahl, C.R. Giesige, J.S. Domire, L.M. Wallace, A. Fowler, S. Guckes, and S.Q. Harper. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. October 5-6, 2015.

"Protein chemistry and protein-protein interactions of DUX4".  J.O. Eidahl and S.Q. Harper. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA. October 5-6, 2015.

"DUX4 inducible zebrafish model for high-throughput drug screen".  A. Pakula, A. Lek, H. Mitsuhashi, F. Rahimov, V. Gupta, J. Criscione, L. Mead, L. Kunkel. FSH Society International Research Consortium & Research Planning Meeting, Boston, MA, October 5-6, 2015.

"DUX4 inhibition as a therapeutic strategy for FSHD". S.Q. Harper.  IGBMC, Strasbourg, France. September 2015.