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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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Master 2 Internship And Potential Continuation In Thesis

Reference : Master

Offer publication : Aug. 27, 2018

Identification and validation of novel genes for myopathies and myalgia

Congenital myopathies are severe genetic diseases that are characterized by muscle weakness at birth. Main bottlenecks are that half of patients lack a genetic diagnosis, the pathological mechanisms are not understood, and there is no specific cure for most of them. Thus we aim to identify novel myopathy genes that will represent novel therapeutic targets. We will use exome and genome sequencing of patients DNA to identify novel implicated genes. The impact of mutations in candidate genes will be confirmed by in vitro assays with recombinant proteins and transfected and differentiated muscle cells followed by confocal and timelapse microscopies. The importance of the novel genes for muscle will be assessed in small animal models (zebrafish or mice) upon exogenous expression with plasmid or adeno-associated virus. Overall, the success of the project will lead to a better diagnosis and patient care, and the identified genes will increase our understanding of the pathomechanisms and represent novel therapeutic targets.

 

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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