Meeting report: the 2021 FSHD International Research Congress

被引：0
作者：
Sujatha Jagannathan
Jessica C. de Greef
Lawrence J. Hayward
Kyoko Yokomori
Davide Gabellini
Karlien Mul
Sabrina Sacconi
Jamshid Arjomand
June Kinoshita
Scott Q. Harper
机构：
[1] University of Colorado Anschutz Medical Campus,Department of Biochemistry and Molecular Genetics
[2] Leiden University Medical Center,Department of Human Genetics
[3] University of Massachusetts Medical School,Department of Neurology and Wellstone Center for FSHD
[4] University of California,Department of Biological Chemistry, School of Medicine
[5] IRCCS San Raffaele Scientific Institute,Division of Genetics and Cell Biology
[6] Radboud University Medical Center,Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour
[7] Nice University Hospital/Institute of Research on Cancer and Aging of Nice,Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children’s Hospital, Department of Pediatrics
[8] FSHD Society,undefined
[9] The Ohio State University College of Medicine,undefined
来源：
Skeletal Muscle | / 12卷
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摘要：
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].
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