Current Projects and Collaborations

  • Project 1: To understand molecular mechanisms regulating SMN expression.

  • Project 2: To identify the molecular and cellular mechanisms downstream of SMN deficiency that cause impaired motor axon development and subsequent degeneration.

  • Project 3: To optimize current SMA therapeutics (including in utero rx) and develop combinatorial treatment strategies.

  • Project 4: To determine the role of TRPV4 in neural vascular endothelial cells.

  • Project 5: To determine how mutant TRPV4 causes motor neuron dysfunction and degeneration in mouse models.

  • Project 6: To test the efficacy of TRPV4 antagonism of reversing disease in mice.

Our work is highly collaborative with both academic and private industry collaborators.