Orthopedic and Muscular Diseases Research at UMass Medical School.

Research topics on Orthopedic and Muscular Diseases at UMMS includes: 

Duschenne Muscular Dystrophy (DMD), Dysferlin, Dysferlinopathy, Facioscapulohumeral muscular dystrophy (FSHD), Fatigue fibromyalgia and more. Browse our innovation by scrolling though below. 







Browse Our Orthopedic and Muscular Diseases Research Inventions:




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Title: New XCI Inhibitors as Potential Rett Syndrome Therapeutics. UMMS15-53; Patent Pending.

  • This invention provides methods of treating a subject having a dominant X-linked disease, the method comprising administering to the subject an X chromosome inactivation factor (XCIF) inhibitor in an amount effective for inducing expression a target X-linked gene. The invention provides small molecule and oligonucleotide XCIF inhibitors. In some embodiments, the X-linked gene is MECP2 and the X-linked disease is Rett Syndrome.

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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.

Title: Surface Mineralization of Metal Alloys Grafted With Zwitterionic Polymer Brushes. UMMS14-35; Patent Pending. 

  • The invention provides novel compositions and methods of surface mineralization for metallic or ceramic implants and devices and the resulting enhancement of properties and performance in skeletal tissue engineering, orthopedic applications and dental care. The novel approach utilizes zwitterionic brushes (e.g., of poly(sulfobetaine methacrylate) or pSBMA) covalently grafted on the surface of titanium or its alloy substrates (e.g., Ti6A14V) to promote surface-mineralization of hydroxyapatite with enhanced surface mineral coverage and mineral- substrate interfacial adhesion. The zwitterionic surface brushes, capable of attracting both cationic and anionic precursor ions during hydroxyapatite-mineralization, significantly increase the surface mineral coverage and significantly reinforce the attachment of the surface apatite crystals on the titanium alloy substrate which withstood supersonication treatment.

Title: Antisense Oligonucleotides to Restore Dysferlin mRNA and Protein Expression in Dysferlin-deficient Cells. UMMS14-41; Patent Pending.

  • This technology originates from identification of a deep intronic mutation in Dyferlin (DYSF) that alters mRNA splicing to include a mutant peptide fragment within a key DYSF domain. This new antisense oligo nucleotide(AON-)mediated exon-skipping to restore production of normal, full-length DYSF in patients' cells in vitro, offering therapeutic solution for patient with Dyferlin-associated maladies. 

Title: Alkylated Amphiphilic Polymer Networks for Bioactive Lipid Delivery. UMMS14-16; Patent Pending. 

  • The invention provides unique amphiphilic polymers may be employed as controlled delivery vehicles or tissue engineering scaffolds wherein the delivery of lipophilic or amphiphilic bioactive molecules can be achieved. An amphiphilic biodegradable polymer platform is disclosed herein for the stable encapsulation and sustained release of biomolecules, such as phospholipid spingosine 1-phosphate (SIP) which can be used to promote angiogenesis alone or in conjunction with VEGF.

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Title: Self-anchoring Biodegradable Polymeric Implants. UMMS13-76; Patent Pending. 

  • This invention provides novel synthetic bone grafting materials or tissue engineering scaffolds with desired structural and biological properties (e.g., well-controlled macroporosities, spatially defined biological microenvironment, good handling characteristics, self-anchoring capabilities and shape memory properties) and methods of their applications in vivo.  Specifically, the invention relates to polymer scaffolds and composites of biodegradable amphiphilic polymers and inorganic minerals as well as methods for their preparation.


  • This invention provides a patented chimeric mouse model for Facioscapulohumeral muscular dystrophy (FSHD) that can be used to further characterize the disease or identify potential therapeutic agents. In a related pending patent application, the invention further discloses inhibitory nucleic acids targeting one or more of SLC34A2, TRIM49, TRIM43, CD177, NAAA, HSPA6, TC2N, or CD34 to treat FSHD.

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Title: Extensible and Elastomeric Electrospun Composites with High Mineral Content. UMMS12-80; Patent Pending. 

  • This invention provides novel compositions of hydroxyapatite and block copolymers, wherein the co-polymers have degradable hydrophobic blocks and hydrophilic blocks for stable interfacing with hydroxyapatite, resulting in stable polymer-hydroxyapatite suspensions. The super- hydrophilicity, strengthened mechanical integrity, and retained structural integrity of the HA- PELA composite in aqueous environment represent major advantages over the HA-PLA composites for skeletal tissue engineering applications. 


  • This technology provides vectors that increase survival of motor neuron (SMN) protein production by an SMN2 gene and methods for treatment of spinal muscular atrophy (SMA). Further discloses is a clonal second generation SMN-luciferase reporter cell line that combines the strengths of both the promoter-based assay and a previous splicing reporter. This assay is much more robust, has lower well-to-well variation, and displays more stable luciferase expression that does not change with serial passage that can be used to identify potential therapeutic agents for SMA. 

Title: Multi-functional Surface Coating of Titanium-based Implants. UMMS12-61; Patent Pending.

  • The invention provides novel surface coatings for metallic implants to prevent periprosthetic infections after orthopedic surgery. To achieve optimal anti-fouling and bactericidial effects of commercial metallic implants, the invention has surface polymer brushes with tightly controlled yet tunable molecular weights (thickness of coating), low-fouling side chain densities and the conformational freedom needed to be grafted from the surface. By employing significantly improved surface-initiated polymerization of low-fouling, zwitterionic polymer brushes and higher-density covalent presentation of antibiotics (e.g. vancomycin) anti-infection outcomes are optimized. 


  • This novel technology provides a new and improved system for properly orienting orthopedic implants within a patient. Specifically, the invention provides an electronic surgical guidance system that enables proper orientation of a surgical instrument and acetabular component within the pelvis during implantation. Feeback signals from the processor assist the surgeon in properly orienting the instrument relative to a user-defined acceptable range. 

    • Inventors: Brian Burroughs
    • Technology: 
    • Patent Expiration Dates2033-03-24 (8,961,526); 2032-08-16 (8,951,256)

Title: Mitogen-Activated Protein Kinase Kinase Kinase Kinase (Map4k4) as a Therapeutic Target of Muscular Dystrophies including Duchenne Muscular Dystrophy (DMD). UMMS12-29; Patent Pending. 

  • The technology provides novels compositions and methods for treating muscle disorders comprising administration of inhibitory oligonucleotides and ribozymes that decreases Mitogen-activated protein kinase kinase kinase kinase 4 (Map4k4) in myoblasts or myocytes. Futher provided are methods of using oligonucleotides targeting Map4k4 to induce differentiation of the myoblast to a mature myocyte that can be used as a research tool to identify therapeutic agents.

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  • This patented technology discloses cellulose and sulfated cellulose fibrous meshes exhibiting robust structural and mechanical integrity in water for use as bone tissue scaffolds. Also, provided are methods of fabrication using a combination of electrospinning, thermal-mechanical annealing and chemical modifications. 

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Title: Arylthiazolyl Piperidines as Modulators of Survival Motor Neuron (SMN) Production. UMMS10-63; Patent Pending. 

  • This invention discloses aryl substituted thiazol-2-yl-piperidines and other related compounds that modulate production of the protein, Survival Motor Neuron (SMN), that plays a role in the treatment of spinal muscular atrophy. These newly identified compounds can modulate SMN2 protein levels and ultimately increase motor neuron survival. Pharmacological composition and methods for treating spinal muscular atrophy are further shown. 

Title: Zygomatic Elevator. UMMS10-27; Patent Pending. 

  • A surgical elevator device that can be used in the reduction of bone fractures, particularly facial bone fractures, and even more particularly zygomatic arch fractures. The elevator device enables accurate measurement of the depth of insertion of the device into tissue space and provides tactile control of fracture location and reduction. In one embodiment, the elevator device comprises a groove on an elevator element for receiving a bone structure. The groove can be formed by a pair of parallel ridges. A projection extending from the elevator provides a pivot point for applying a controlled force to the bone to reduce the fracture. A preferred embodiment further comprises a method of reducing a bone fracture, such as a zygomatic arch fracture. 

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Title: BONE FIXTURE ASSEMBLY. UMMS09-49; Patent 8,690,9279,566,098

  • The present invention provides a screw and plate assembly for sternal fixation. This technology provides an improvement over steel wire fixation, the method currently used for sternal fixation. Specifically, this technology decreases unwanted loosening and failure of the fixation system, a problem common in osteoporotic or lower-density bones.

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