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Published on: January 31, 2013
Emerging preclinical animal models for FSHD
Angela Lek1, Fedik Rahimov1, Peter L Jones2
1Division 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.
Facioscapulohumeral dystrophy (FSHD) research is advancing with new preclinical models. However, no single model fully captures FSHD
Area of Science:
- Genetics
- Neuromuscular Disorders
- Disease Modeling
Background:
- Facioscapulohumeral dystrophy (FSHD) is a complex genetic disorder with an evolving understanding of its genetic basis.
- Recent progress has established a consensus genetic premise, paving the way for preclinical model development.
Purpose of the Study:
- To review and assess existing DUX4-dependent and -independent FSHD models.
- To evaluate their utility for therapeutic discovery and gaining new disease insights.
Main Methods:
- Comprehensive review of current FSHD preclinical models.
- Analysis of model relevance to FSHD genetics and pathophysiology.
Main Results:
- No single existing model fully recapitulates the genetic and pathophysiological spectrum of FSHD.
- Current models highlight specific disease aspects but are not comprehensive.
Conclusions:
- Existing FSHD models are valuable but limited in scope.
- Collaborative research and novel approaches are crucial for advancing FSHD translational research.
