Work

Everything, everywhere: FSHD as a model for complex genetic disease

Year: 2026

Type: article

Abstract: Medical genetics can reveal how genetic variations shape human biology by addressing a critical question: how does a genetic lesion become a phenotype? Facioscapulohumeral muscular dystrophy (FSHD), exemplifies how a seemingly simple genetic lesion can affect multiple layers of cellular regulation, affecting 'everything, everywhere all at once'.

Source: Trends in Genetics

DOI: 10.1016/j.tig.2026.07.006

Authors: Valentina Salsi, Francesca Losi, Rossella Tupler

Institution: University of Modena and Reggio Emilia

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $7,030