Development of dystroglycanopathy patient specific cell based assays for drug screening

Dr. Anne Bang

Sanford-Burnham Medical Research Institute (La Jolla, CA, USA)

 

Project summary:

This grant will support the development of patient-specific cell lines to be used for drug screening. Skin cells from dystroglycanopathy patients (with different FKRP mutations, or with mutations in POMT1, POMT2, POMGnT or Fukutin genes) will be used to generate several lines of adult stem cells. These stem cells will then be converted into different types of cells relevant to the pathology (such as skeletal and cardiac muscle cells) and a series of chemical compounds will be screened, to test for improvement in cell function.