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Pathophysiology of neuromuscular diseases

Pathophysiology of neuromuscular diseases

We study rare and severe neuromuscular disorders caused by mutations in proteins controlling intracellular organization and dynamics. We aim to tackle the three main bottlenecks in this field:

  • identify the genetic basis of neuromuscular diseases. 50% of patients are devoid of genetic diagnosis, while it is a requisite for better healthcare and genetic counselling. The identification of the implicated genes also help to better understand the pathomechanism and identify novel therapeutic targets.
  • decipher the pathological mechanisms. The sequence of events from the DNA mutation(s) to the symptoms is not known. The identification of the pathomechanism reveals therapeutic strategies.
  • validate therapeutic proof-of-concepts. No cure is available for these severe diseases. Using innovative strategies in laboratory models, we provide potential therapies that could be tested in patients.

Current projects

Identify the genetic basis of myopathies, myalgia and high athletic performances
Project leaders : Valérie BIANCALANA, Johann BOHM, Jocelyn LAPORTE

Understand and cure myotubular/centronuclear myopathies through gene modulation and pharmacology
Project leader : Jocelyn LAPORTE

Understand and cure tubular aggregates myopathy and Stormorken syndrome through gene modulation and pharmacology
Project leader : Johann BOHM

Awards and recognitions

  • Marie Goret: Best oral communication by a young researcher at the International Myology congress, 2022
  • Roberto Silva-Rojas: PhD award from the Research Committee of Strasbourg University, 2022
  • Roberto Silva-Rojas: PhD award of the Health and Life Sciences Doctoral School from the Strasbourg Biology Society, 2022
  • Alix Simon : Master award from the French Myology Society, 2021
  • Morgane Boedec : Master Fellowship of the Medical Academy, 2021
  • Xavière Lornage : Award Christian Nezelof-Imagine, 2020
  • Xavière Lornage : PhD award ‘University Foundation’ from the Strasbourg Biology Society, 2020
  • Valentina Lionello : PhD award ‘Transgene’ from the Strasbourg Biology Society, 2020
  • Belinda Cowling : Irène Joliot-Curie Prize for Women in Business and Technology, 2019
  • Belinda Cowling : Scientific Prize from the University of Strasbourg, 2019
  • Roberto Silva-Rojas : Knox Chandler award for best oral presentation at the Gorden Research Conference in Lucca (Italy), 2019.
  • Xavière Lornage : Myology French Society award for best oral presentation, 2019
  • Hichem Tasfaout : PhD award ‘Transgene’ from the Strasbourg Biology Society, 2018
  • Johann Bohm : Young Myologist of the Year from the World Muscle Society, 2017
  • Maxime Sartori : PhD award ‘Région Grand-Est’ from the Strasbourg Biology Society, 2017
  • Jocelyn Laporte : Jean Valade young investigator award from Fondation de France, 2012
  • Valérie Tosch : PhD award ‘Strasbourg City and Communauté Urbaine de Strasbourg’, 2011
  • Ivana Prokic : Myology French Society award for best oral presentation, 2011
  • Jocelyn Laporte : Senior Research Prize « Pediatric pathology » from the French Society of Pediatrics, 2009
  • Anne-Sophie Nicot : PhD award ‘Société des amis des Universités de l'Académie de Strasbourg’, 2008
  • Jocelyn Laporte : Leyla Karam research award on rare disorders (Association Leyla pour lutter contre les maladies orphelines), 2008
  • Valérie Tosch : Master award from the French Myology Society (SFM), 2007

Publications

Funding and partners

Current fundings:

  • European Joint Program ‘IDOLS-G’ (2020-2023)
  • European Rare program ‘TREAT MTMs’ (2018-2021)
  • Agence National Recherche ANR ‘FLUOPROLINE’ (2021-2024)
  • Agence National Recherche ANR ‘COVENTRY’ (2021)
  • Agence National Recherche ANR ‘DYNATHER’ (2018-2022)
  • Fondation Recherche Médicale FRM team label (2019-2022)
  • AFM-Téléthon strategic project ‘MYO-IGBMC’ (2019-2022)
  • Muscular Dystrophy Association MDA-USA (2018-2021)
  • Fondation Maladies Rares (2019-2021)

Resources

Follow our publications and latest research on Researchgate : www.researchgate.net/profile/Jocelyn-Laporte

Raw data for our study on Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies. Mol Ther. 2021 Apr 30:S1525-0016(21)00247-1.
www.ncbi.nlm.nih.gov/geo/query/acc.cgi
www.sciencedirect.com/science/article/abs/pii/S1525001621002471