Establishment of Phenotypic Profiles of Muscular Dystrophies for Understanding Disease Progression, Diagnosis and Development of New Therapies

Muscular dystrophies are caused by mutations in more than 30 genes, some of them remaining
to be identified. Phenotypically, it is known that one specific mutation can affect the
expression of several other proteins, causing difficulty in diagnosis. Correct genotyping is
essential for diagnosis, prognosis and treatment, and relies on a complexed analysis of
muscle tissues for phenotype profiles. Our research aims to understand how different gene
mutations affect expression of other genes via muscle biopsy samples and establishment of
phenotypic profiles for correct diagnosis of individual patients. Establishment of such
information will be critical for understanding the progression of different muscular
dystrophies and to devise new experimental therapies. The research will also provide vital
clues for finding new genes involved in the disease process. Muscle samples may also be used
to establish cell cultures for testing drugs and new therapies relevant to the treatment of
the muscular dystrophies.