The Chamberlain laboratory is focused on understanding and developing treatments for
the muscular dystrophies and other disorders of muscle. These studies center on
the Duchenne muscular dystrophy (DMD) gene (dystrophin) and exploring the expression
and function of these genes and the LGMD2I gene (FKRP).
A major area of focus
involves the development of vectors to deliver dystrophin or other genes
to muscle for gene therapy. These vectors are being tested for safety and for
their ability to halt and/or reverse the dystrophic phenotype. The primary vector
being studied is derived from adeno-associated virus (AAV), which efficiently transfers genes
to skeletal muscle and heart. Methods are being developed for whole body systemic
delivery, and a human clinical trial is being planned.
An additional area of study is an investigation of muscle stems cells
and their potential use in ex vivo gene therapy following transduction
of cells with lentiviral vectors, or by direct gene correction using AAV.
Our efforts to transfer genes to muscle
are also being adapted for genetic and non-genetic muscle wasting disorders.