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Peter L Jones

 

 

 

 

UMassMed Faculty Page

Inventions:

Title: Molecular Diagnosis of FSHD by Epigenetic Signature. UMMS14-65; Patent Pending. 

  • This new diagnostic method for facioscapulohumeral muscular dystrophy (FSHD) using saliva samples, can circumvent the traditional need for fresh blood samples. Many FSHD patients are asymptomatic until disease progression over many years, making initial diagnosis difficult. Even patients found to be positive for FSHD using the DNA testing method be asymptomatic. Building on the discovery that the saliva and muscle epigenetic landscapes are correlated, this invention can provide early and accurate diagnosis of FSHD. 

 

Innovation TopicsDiagnosticsFacioscapulohumeral muscular dystrophy (FSHD)Muscular dystrophy