My laboratory is focused on developing gene therapy based vectors for the treatment of neuromuscular disorders.  With emphasis on translating laboratory benchside research to the bedside, we are interested in addressing key issues such as transgene delivery, efficacy of gene expression, and immunogenicity; which all have the potential to affect clinical outcomes. 

A primary goal is delivering recombinant adeno-associated virus (rAAV) mediated vectors by a vascular route to target multiple muscle groups.  One such vector is micro-dystrophin as a potential treatment for Duchenne muscular dystrophy (DMD).  Gene therapy based therapeutics for other forms of muscular dystrophy, Limb girdle muscular dystrophy type 2D [alpha-sarcoglycan (SGCA) deficiency] and type 2B [dysferlin (DYSF) deficiency are also a key initiative in my lab.  Development of a gene delivery vector for DYSF deficiency using a novel approach with AAV5 is currently underway and future studies will focus on translating these pre-clinical studies to the clinic. 

Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craene JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Violiet L, Walker CM, Sahenk Z, Clark KR.  Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Nerol. 2009 Sept;666(3):290-7  

Rodino-Klapac LR, Janssen PM, Comtgomery CL, Coley BD, Chicoine LG, Clark KR, Mendell JR. A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med. 2007 Sept 24;5:45

Rodino-Klapac LR, Beattie CE. Zebrafish topped is required for ventral motor axon guidance. Dev Biol.2004 Sept 15;273(2);308-20.