title: Emerging preclinical animal models for FSHD.
abstract: Facioscapulohumeral dystrophy (FSHD) is a unique and complex genetic disease that is not entirely solved. Recent advances in the field have led to a consensus genetic premise for the disorder, enabling researchers to now pursue the design of preclinical models. In this review we explore all available FSHD models (DUX4-dependent and -independent) for their utility in therapeutic discovery and potential to yield novel disease insights. Owing to the complex nature of FSHD, there is currently no single model that accurately recapitulates the genetic and pathophysiological spectrum of the disorder. Existing models emphasize only specific aspects of the disease, highlighting the need for more collaborative research and novel paradigms to advance the translational research space of FSHD.
authors: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; The Wellstone Program, Departments of Neurology and Cell and Developmental Biology, University of Massachusetts Medical School (UMMS), Worcester, MA 01655, USA. Electronic address: alek@enders.tch.harvard.edu.
authors: Angela
authors: A
authors: Lek
authors: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; The Wellstone Program, Departments of Neurology and Cell and Developmental Biology, University of Massachusetts Medical School (UMMS), Worcester, MA 01655, USA.
authors: Fedik
authors: F
authors: Rahimov
authors: The Wellstone Program, Departments of Neurology and Cell and Developmental Biology, University of Massachusetts Medical School (UMMS), Worcester, MA 01655, USA; The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIHCD) Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Massachusetts Medical School, Worcester, MA, USA.
authors: Peter L
authors: PL
authors: Jones
authors: Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; The Wellstone Program, Departments of Neurology and Cell and Developmental Biology, University of Massachusetts Medical School (UMMS), Worcester, MA 01655, USA.
authors: Louis M
authors: LM
authors: Kunkel
mesh_terms: D000818:Animals; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D023421:Models, Animal; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000473:pathology*
chemical_list: D018398:Homeodomain Proteins
keywords: DUX4; facioscapulohumeral dystrophy; muscular dystrophy