Meeting report: the 2021 FSHD International Research Congress
Abstract 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 typ...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-01-01
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| Series: | Skeletal Muscle |
| Online Access: | https://doi.org/10.1186/s13395-022-00287-8 |
| _version_ | 1819261215677874176 |
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| author | Sujatha Jagannathan Jessica C. de Greef Lawrence J. Hayward Kyoko Yokomori Davide Gabellini Karlien Mul Sabrina Sacconi Jamshid Arjomand June Kinoshita Scott Q. Harper |
| author_facet | Sujatha Jagannathan Jessica C. de Greef Lawrence J. Hayward Kyoko Yokomori Davide Gabellini Karlien Mul Sabrina Sacconi Jamshid Arjomand June Kinoshita Scott Q. Harper |
| author_sort | Sujatha Jagannathan |
| collection | DOAJ |
| description | Abstract 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]. |
| first_indexed | 2024-12-23T19:38:16Z |
| format | Article |
| id | doaj.art-e1293d0484d644569819137cb3f35b3b |
| institution | Directory Open Access Journal |
| issn | 2044-5040 |
| language | English |
| last_indexed | 2024-12-23T19:38:16Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Skeletal Muscle |
| spelling | doaj.art-e1293d0484d644569819137cb3f35b3b2022-12-21T17:33:45ZengBMCSkeletal Muscle2044-50402022-01-0112111010.1186/s13395-022-00287-8Meeting report: the 2021 FSHD International Research CongressSujatha Jagannathan0Jessica C. de Greef1Lawrence J. Hayward2Kyoko Yokomori3Davide Gabellini4Karlien Mul5Sabrina Sacconi6Jamshid Arjomand7June Kinoshita8Scott Q. Harper9Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical CampusDepartment of Human Genetics, Leiden University Medical CenterDepartment of Neurology and Wellstone Center for FSHD, University of Massachusetts Medical SchoolDepartment of Biological Chemistry, School of Medicine, University of CaliforniaDivision of Genetics and Cell Biology, IRCCS San Raffaele Scientific InstituteDepartment of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical CenterNice University Hospital/Institute of Research on Cancer and Aging of NiceFSHD SocietyFSHD SocietyCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children’s Hospital, Department of Pediatrics, The Ohio State University College of MedicineAbstract 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].https://doi.org/10.1186/s13395-022-00287-8 |
| spellingShingle | Sujatha Jagannathan Jessica C. de Greef Lawrence J. Hayward Kyoko Yokomori Davide Gabellini Karlien Mul Sabrina Sacconi Jamshid Arjomand June Kinoshita Scott Q. Harper Meeting report: the 2021 FSHD International Research Congress Skeletal Muscle |
| title | Meeting report: the 2021 FSHD International Research Congress |
| title_full | Meeting report: the 2021 FSHD International Research Congress |
| title_fullStr | Meeting report: the 2021 FSHD International Research Congress |
| title_full_unstemmed | Meeting report: the 2021 FSHD International Research Congress |
| title_short | Meeting report: the 2021 FSHD International Research Congress |
| title_sort | meeting report the 2021 fshd international research congress |
| url | https://doi.org/10.1186/s13395-022-00287-8 |
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