CV Science

Karine CHARTON Senior Engineer/Manager, PhD Molecular and Cellular Biology - Biotechnologies

Course and current status

Since 2010: Resear Scientist: Genethon , "Progressive Muscular Dystrophies lab".

2013: Animal experimentation Level I

2006-2010 - PhD in Molecular and Cellular Biology , Genethon & Université d'Evry Val d'Essonne (91)

2005-2006 - Master 2 Research Genetics and Physiology, Université Clermont II (63)

2003-2006 – Engineering - Bio Engineering - Polytech' Clermont (63)

2002-2003 - License Cell Biology and Physiology, Université Claude Bernard (Lyon, 69)

2000-2002 - Preparatory School BCPST (Saint Etienne, 42)

Scientific summary

Research projects developed in our group mainly focus on the understanding of molecular and cellular bases of Limb Girdle Muscular Dystrophy and Duchenne Muscular Dystrophy, which are rare genetic disorders  (skeletal muscle and heart function).

We concentrating our efforts on developing innovative approaches to treat these diseases and search for the best modes of administration that ensure easy and effective distribution of the therapeutic gene-drug to a wide range of muscles, as well as on large-scale bioproduction of AAV (adeno-associated virus) vectors.

Patent: Calpain 3 inhibitors for muscular dystrophies, 2010. WO 2012/001121 and FR2962041 A1.

Evaluations: 

-       Examinator: V. Kergourlay, faculté de médecine de Marseille, Mise au point d’outils novateurs pour l’identification de mutations pathogènes : cas des dysferlinopathies, 20 Novembre 2014.

-       Expert HCERES : écoles doctorales de Normandie, Novembre 2015.

Publications:

David Israeli, Jérôme Poupiot, Fatima Amor, Karine Charton, Laurence Jeanson-Leh, Isabelle Richard. Monitoring therapeutic results with miRNA biomarkers in muscular dystrophy. Under review. 

Evelyne Gicquel, Natacha Maizonnier, Steven J. Foltz, William J. Martin, Nathalie Bourg, Karine Charton, Aaron M. Beedle, Isabelle Richard. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model of limb-girdle muscular dystrophy type 2I, but requires tight control of gene expression. Under review.

Jérôme Poupiot, Fatima Amor, Karine Charton, Laurence Jeanson-Leh, Isabelle Richard, David Israeli. Monitoring therapeutic results with miRNA biomarkers in muscular dystrophy. Under review.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.Neurology. 2015 Nov 18.

Karine Charton, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Helena Luque, Laurence Suel, ImèneBoumela, Astrid Milic,, Isabelle Richard & Bjarne Udd, Physiological C-terminal titin processing replaced by pathological cleavage in titinopathy. Hum Mol Genet. 2015 Jul 1;24(13):3718-31.

Marina Pryadkina, William Lostal, Nathalie Bourg, KarineCharton, CarinneRoudaut, Matthew L Hirsch, Isabelle Richard.A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2kb Dysferlin coding sequence, Molecular TherapyMethods Clin Dev. 2015 Mar 25;2:15009.

François Monjaret, Nathalie Bourg, Laurence Suel, Carinne Roudaut, Florence Le Roy, Isabelle Richard* and Karine Charton (2014). "Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing". Molecular Therapy,22, 1176-1187°.

Roudaut, C., Le Roy, F., Suel, L., Poupiot, J., Charton, K., Bartoli, M. & Richard, I. (2013) Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation, 128, 1094-1104.

Blandin, G., Marchand, S., Charton, K., Daniele, N., Gicquel, E., Boucheteil, J.B., Bentaib, A., Barrault, L., Stockholm, D., Bartoli, M. & Richard, I. (2013) A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skeletal muscle, 3.

Monjaret, F., Suel-Petat, L., Bourg-Alibert, N., Vihola, A., Marchand, S., Roudaut, C., Gicquel, E., Udd, B., Richard, I. &Charton, K. (2013) The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5. Human gene therapy - Clinical development, 24, 65-76.

Charton, K., Daniele, N., Vihola, A., Roudaut, C., Gicquel, E., Monjaret, F., Tarrade, A., Sarparanta, J., Udd, B. & Richard, I. (2010) Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Human molecular genetics, 19, 4608-4624.

Sarparanta, J., Blandin, G., Charton, K., Vihola, A., Marchand, S., Milic, A., Hackman, P., Ehler, E., Richard, I. & Udd, B. (2010) Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. The Journal of biological chemistry, 285, 30304-30315.

Review:

RNA-targeting approaches for neuromuscular diseases, Trends in Molecular Medicine. Florence Le Roy, Karine Charton, Christian L. Lorson and Isabelle Richard., 2010.

Presentations orales:

19-20 mars 2015:Société Française de Thérapie Cellulaire et Génique, Paris : « miRNA target vectors ».

1-5octobre 2013: World Muscle Society, USA, presentation orale:«Drawbacks of therapeutic trans-splicing strategies».

3-6 avril 2013:Jain congress, USA, presentation orale: « ANO5 therapeutic approach by rAAV2/8 gene transfer for dysferlinopathies ».

18-22 juillet 2010:International Congress of Neuromuscular Diseases, Naples, presentation orale: « A mouse model reproducing the FINmaj titin mutation exhibits TMD and LGMD2J». Prix de la meilleure présentation orale

24-29 mai 2008 :Myology 2008, Marseille: présentation orale: «  A mouse model reproducing the FINmaj titin mutation exhibits TMD and LGMD2J».

Posters :

7-11 octobre2014: World Muscle Society, Berlin:“ Physiological C-terminal titin processing replaced by pathological cleavage in titinopathy”.

5-10 juillet 2014, ICNMD, France: «ANO5 therapeutic approach by rAAV2/8 gene transfer for dysferlinopathies».

15-18 mai2013 :ASGCT,Salt Lake City,: « AAV-mediated gene therapy for ANO5-linked diseases.».

3-6 avril 2013: Jain congress, Washington,: « AAV-mediated gene therapy for ANO5-linked diseases. ».

25-28 octobre2012:ESGCT, Versailles: « ANO5 therapeutic approach by rAAV2/8 gene transfer for dysferlinopathies» et «Physiopathology and therapeutic approach by trans-splicing for TMD and LGMD2J».

1-2 juillet 2010:CongrèsJeunesChercheurs 2010, Evry,: «Physiopathology and therapeutic approach by trans-splicing for TMD and LGMD2J».

21-25 novembre2009:ESGCT 2009, Hanovre:«  Therapeutic approach by trans-splicing for TMD and LGMD2J».

21-23 juin2009:SFTCG 2009, Paris: «Physiopathology and therapeutic approach by trans-splicing for TMD and LGMD2J».