Basic and Translational Myology
Head: Ana Ferreiro (DR INSERM)
We conduct multidisciplinary research (basic, pathophysiological and translational) on congenital myopathies and myofibrillar myopathies, inherited rare diseases of skeletal muscles which present with muscle weakness leading to walking difficulties or impossibility. Some forms are associated with respiratory or heart failure which cause premature death. No treatment is currently available. Our goal is understanding the mechanisms leading from the genetic defects to the phenotypical consequences in patients, to identify defective pathways representing potential therapeutic targets and thus develop pathophysiology-based pharmacological therapies.
Team members are at the origin of the description and identification of the genetic basis of several forms of myopathies (mutations in DES, CRYAB, SEPN1, RYR1, TTN, TRIP4). Our work has also led to the identification of the first pathophysiology-based therapeutic drugs in vitro and ex vivo (Arbogast S et al, Ann Neurol 2009 ; Dowling JJ et al, Brain 2012 (in collaboration with Dr JJ Dowling, US) ; Segard B et al, PLoS One 2013). These studies are the bases of the first clinical trials for these currently-untreatable rare conditions (http://clinicaltrials.gov/ct2/show/…).
We use a multidisciplinary combination of clinical, animal, molecular, cellular and pharmacological approaches which gives as an internationally leading position at the interface between basic and clinical research and allows us to cover all the aspects of translational and therapeutic research ‘from bedside to bench and back’
Our two axes of research include 5 main projects:
Physiopathological mechanisms associated with cytosolic or nuclear intermediate filaments and their partner proteins in myopathies:
Desmin-related myopathies (desminopathies): Sabrina PICHON, Alain LILIENBAUM, Eva CABET, Florence DELORT, Coralie HAKIBILEN.
Myopathies related to nuclear proteins: Brigitte BUENDIA and Nathalie VADROT.
SEPN1-related myopathies: Ana FERREIRO, Anne FILIPPE, Maryline MOULIN, Nathalie VADROT
ASC-1 related myopathy (TRIP4): Ana FERREIRO, Isabelle DUBAND-GOULET, Eva CABET, Alain LILIENBAUM.
TTN-related myopathies: Ana FERREIRO.