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Jocelyn LAPORTE
jocelyn.laporte@igbmc.fr
Tel. : +33 (0)3 88 65 34 12

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51 research teams
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105 PhD students
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Master 2 Internship And Potential Continuation In Thesis

Reference : Master

Offer publication : Aug. 27, 2018

Validation of therapeutic approaches for congenital myopathies

Congenital myopathies are severe genetic diseases without current treatment. Mechanisms of these diseases are still poorly understood. Following the identification of genes linked to myopathies and the validation of cellular and murine models, we now plan to investigate the molecular and cellular defects leading to such diseases, and test pharmacological approaches and gene modulation for therapies. Drugs have been identified or are being screened for targets we recently defined. Gene modulation will be done using viral vectors of the AAV type. The aim of the Master project is to validate in vitro and in cell culture with imaging the potential of the pharmacological compounds or viral constructs to impact on the function of the myopathy genes. This project should provide a better understanding of the mechanisms of myopathies and validate compounds with therapeutic action.

 

1-2 references :

.Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Constitutive activation of the calcium sensor STIM1 causes tubular aggregate myopathy. Am J Hum Genet, 2013 Feb 7;92(2):271-8.

.Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. J Clin Invest. 2017 Dec;127(12):4477-4487.

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Contacts : 

Jocelyn Laporte ; jocelyn@igbmc.fr; 0388653412 ; www.igbmc.fr\Laporte

IGBMC, Strasbourg, France

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