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Collagen VI-related Muscular Dystrophy

  • Project studies mechanisms of muscle fibrosis and contribution of skeletal muscle extracellular matrix

  • Goals: 

    • Identify disease-specific therapeutic targets in muscle extracellular matrix​

    • Develop therapies for muscular dystrophies and other degenerative diseases of muscle to promote muscle regeneration

  • Current Experimental Plans:

    • Uses collagen VI-related muscular dystrophy mouse model, Col6a2 knockout

    • Have identified changes in bioavailability of TGFβ as potential contributing factor to fibrosis and disease pathogenesis

  • ​Future studies:

    • Use antisense oligonucleotides and small molecules that target TGFβ pathway in preclinical studies as a therapeutic approach for collagen VI-related dystrophies

    • Focus on investigating contributions of mechanical force dysregulation, ECM-regulated growth factors, and satellite cell proliferation.

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Serine Palmitoyltransferase (SPT)-related Amyotrophic Lateral Sclerosis

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  • Recently discovered new monogenic form of amyotrophic lateral sclerosis (ALS) caused by gain-of-function pathogenic variants in serine palmitoyltransferase enzyme (SPTLC1 or SPTLC2)

  • Goals: 

    • Identify downstream mechanisms of neurodegeneration ​

    • Develop and validate treatment strategies that target the pathway

  • Current Experimental Plans:

    • Developed patient-derived cells, iPSCs, and mouse models for translational studies 

      • Use antisense oligonucleotides and small molecules as therapeutic agents​

  • Future studies: 

    • Identifying specific cells and organelles that drive the disease​

    • Investigating the selective vulnerability of motor neurons to biochemical perturbations in the sphingolipid pathway

    • Evaluating the relevance of this pathway to more common and sporadic forms of ALS

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Cell-based Therapies for Duchenne Muscular Dystrophy

  • ​​​Collaborative studies on the efficacy of stem cell transplantation in immunodeficient mouse model of Duchenne muscular dystrophy

  • Goals: 

    • Learn more about contributing factors that can improve efficiency of future cell-based therapies as a treatment strategy for degenerative disease of skeletal muscle​

  • Current experimental plans:

    • Build on prior studies to improve engraftment efficiency and survival of transplanted stem cells​

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