Dr. Marcella Dias Brescia

Research:

Duchenne muscular dystrophy (DMD) is a X-linked inherited disease caused by mutations in the DMD gene, which codes for dystrophin, a large subsarcolemmal protein crucial for maintaining the integrity of striated muscle cells. Hence, the absence of functional dystrophin leads to progressive muscle weakness followed by early death, normally due to cardiac failure. DMD is the most severe and common human muscular dystrophy, for which there are currently no effective therapies available. Genome editing based on programmable nucleases has recently emerged as a potential genetic therapy for this condition. At LUMC, I focus on exploring this approach with the aim of restoring endogenous DMD expression and rescue dystrophin synthesis in human cells. I am currently working on novel gene editing strategies for repairing defective DMD alleles in human muscle progenitor cells assessing, in the process, their efficiency, specificity and accuracy.

Curriculum Vitae:

From 2013 to 2017, I carried out my Ph.D. at the University of Oxford at the Department of Physiology, Anatomy and Genetics. My thesis research focused on exploring the role of cyclic nucleotides signalling (cAMP/cGMP and phosphodiesterases) on the cardiomyopathy associated with Duchenne Muscular Dystrophy (DMD) mainly using live cell imaging and FRET. Since December 2017, I am part of Manuel Gonçalves’ group at the LUMC as a Postdoctoral researcher. Here, I am developing programmable nuclease tools (CRISPR/Cas9) for testing new gene editing strategies and DMD repairing principles. Before my Ph.D., I worked in various research projects focused on a deeper understanding of cyclic nucleotides signalling in breast cancer and cardiac function at the Universidade Federal de Minas Gerais (UFMG), at Universidade FUMEC, Brazil, where I received my degree in Biomedical Sciences and at the University of Oxford where I also did part of my undergraduate studies.