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Meeting report: the 2021 FSHD International Research Congress

dc.contributor.authorJagannathan, Sujatha
dc.contributor.authorde Greef, Jessica C.
dc.contributor.authorHayward, Lawrence J.
dc.contributor.authorYokomori, Kyoko
dc.contributor.authorGabellini, Davide
dc.contributor.authorMul, Karlien
dc.contributor.authorSacconi, Sabrina
dc.contributor.authorArjomand, Jamshid
dc.contributor.authorKinoshita, June
dc.contributor.authorHarper, Scott Q.
dc.date2022-08-11T08:08:34.000
dc.date.accessioned2022-08-23T15:59:43Z
dc.date.available2022-08-23T15:59:43Z
dc.date.issued2022-01-17
dc.date.submitted2022-05-05
dc.identifier.citation<p>Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17;12(1):1. doi: 10.1186/s13395-022-00287-8. PMID: 35039091; PMCID: PMC8762812. <a href="https://doi.org/10.1186/s13395-022-00287-8">Link to article on publisher's site</a></p>
dc.identifier.issn2044-5040 (Linking)
dc.identifier.doi10.1186/s13395-022-00287-8
dc.identifier.pmid35039091
dc.identifier.urihttp://hdl.handle.net/20.500.14038/30734
dc.description.abstractFacioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the disease for both FSHD type 1 and type 2 has been attributed to gain-of-toxic function stemming from aberrant DUX4 expression, the exact pathogenic mechanisms involved in muscle wasting have yet to be elucidated [2-4]. The 2021 FSHD International Research Congress, held virtually on June 24-25, convened over 350 researchers and clinicians to share the most recent advances in the understanding of the disease mechanism, discuss the proliferation of interventional strategies and refinement of clinical outcome measures, including results from the ReDUX4 trial, a phase 2b clinical trial of losmapimod in FSHD [NCT04003974].
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=35039091&dopt=Abstract">Link to Article in PubMed</a></p>
dc.rightsCopyright © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectFacioscapulohumeral muscular dystrophy
dc.subjectFSHD
dc.subjectCellular and Molecular Physiology
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectMusculoskeletal Diseases
dc.subjectMusculoskeletal, Neural, and Ocular Physiology
dc.subjectNervous System Diseases
dc.titleMeeting report: the 2021 FSHD International Research Congress
dc.typeJournal Article
dc.source.journaltitleSkeletal muscle
dc.source.volume12
dc.source.issue1
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3238&amp;context=faculty_pubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/faculty_pubs/2205
dc.identifier.contextkey29018213
refterms.dateFOA2022-08-23T15:59:43Z
html.description.abstract<p>Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the disease for both FSHD type 1 and type 2 has been attributed to gain-of-toxic function stemming from aberrant DUX4 expression, the exact pathogenic mechanisms involved in muscle wasting have yet to be elucidated [2-4]. The 2021 FSHD International Research Congress, held virtually on June 24-25, convened over 350 researchers and clinicians to share the most recent advances in the understanding of the disease mechanism, discuss the proliferation of interventional strategies and refinement of clinical outcome measures, including results from the ReDUX4 trial, a phase 2b clinical trial of losmapimod in FSHD [NCT04003974].</p>
dc.identifier.submissionpathfaculty_pubs/2205
dc.contributor.departmentWellstone Center for FSHD
dc.contributor.departmentDepartment of Neurology
dc.source.pages1


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Copyright © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Except where otherwise noted, this item's license is described as Copyright © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.