My current research is based on modeling neuromuscular diseases (NMDs - such as SMA,
DMD, DM1, FSHD or Lama2-CMD) using patients’ induced pluripotent stem cells (hiPSC) to
better understand the genetic and cellular mechanisms contributing to debilitating skeletal
muscle diseases. A specific project, funded by the European Commission through a MSCA
Reintegration fellowship, is to the identify novel disease-causing genes in patients in
diagnosis deadlock and decipher the mechanisms contributing to previously undiagnosed
Muscular Dystrophies (UMDs) in order to orient their diagnoses and facilitate their
classification, and in the hope that this may lead to new therapies. To this aim, we
continuously collaborate with hospital services and gathered large collections of biological
samples that can be exploited experimentally. By combining state-of-the-art molecular and
functional technologies (transcriptomics, multi-omics, NGS, calcium imaging and MEA), we
are able to identify the genes, biological pathways and functional properties affected in
undiagnosed neuromuscular diseases. Overall, this project will offer new avenues for
understanding skeletal muscle pathologies and will facilitate the development of innovative
therapeutic approaches.
Another specific focus is deciphering the pathomechanisms of Laminin a2 deficiency related
muscular dystrophy (LAMA2-RD), an ECM-related neuromuscular disorder and one of the
most common congenital muscular dystrophies for which there exists no cure.
In the context of genetic NMDs, hiPSC-based models represent unprecedented opportunities
to investigate the different aspects of a given pathology, identify new genes, validate the
pathogenicity of variants or define early stages of muscle wasting. HiPSC-based models also
supports the development of innovative treatments for muscle conditions and may open the
door for preclinical screening of a personalized panel of drug candidates to improve these
debilitating disorders.