Gisèle BONNE
Directrice de Recherche INSERM
Responsable d'équipe "Génétique et physiopathologie des maladies neuromusculaires liées à la matrice extracellulaire et du noyau"
Centre de Recherche en Myologie -Sorbonne Université - Inserm
Institut de Myologie - Paris - France
266
Documents
Current affiliations
- 1053657
Researcher identifiers
gisele-bonne
- ResearcherId : G-3121-2013
-
0000-0002-2516-3258
- IdRef : 075894920
- ResearcherId : http://www.researcherid.com/rid/G-3121-2013
Presentation
My research interest focuses on the analysis of skeletal and cardiac striated muscles in normal and pathologic conditions. After a PhD thesis (1990-1994) on the human cytochrome C oxidase complex during development and in mitochondrial myopathies, I had post-doctoral training in genetics where I identified the first mutation in the MYBPC3 gene responsible to familial hypertrophic cardiomyopathy (1995). Since 1996, date at which I got a permanent position at Inserm as senior researcher, I conducted my research program of the genetics and pathophysiology of Emery-Dreifuss muscular dystrophy (EDMD) and identified the first mutation of LMNA gene encoding Lamins A/C (1999). Mutations of this gene have been since linked to wide spectrum of disorders, the Laminopathies. My research program has evolved with time towards genetics and pathophysiology of Laminopathies and their related disorders and to reach now the genetics, the pathophysiology and the test of therapeutic approaches of several neuromuscular disorders, as I’m now leading a team of 15 persons at the Center of Research in Myology (Paris, France). The field of laminopathies has grown over the years, and is now a quite competitive and simulating research area. My team created 2 knock-in mouse models reproducing LMNA mutations identified in patients, models that mimics quite well some of the human disease features and thus represent unique tools to test therapeutic strategies. I have been the Chair of the French Society of Myology (SFM, 2015-2018) and I'm the treasure of the World Muscle Society (WMS) since 2017.
Skills
Human Genetics
Rare Neuromuscular Diseases
Laminopathies
Nuclear Envelope
A-type Lamins
Striated muscle
Publications
The H222P-Lamin mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathyESC Congress 2024, Aug 2024, London, United Kingdom. ⟨10.1093/eurheartj/ehae666.3680⟩
Conference papers
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TREATABOLOME, A RARE DISEASES’ TREATMENT AWARENESS PROJECT9ème Journée nationale BRAIN -TEAM, Filière nationale de Santé Maladies rares du système nerveux central, Mar 2024, Paris, France
Conference papers
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ERDERA and opportunities for French genetics teams3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France
Conference papers
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P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩
Conference papers
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VP429 Impaired skeletal muscle strength in adult patients with laminopathies28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩
Conference papers
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2002 - 2023 : l’Odyssée de… la Myologie20èmes Journées de la Société Française de Myologie, Societe Française de Myologie, Nov 2023, La Baule (France), France
Conference papers
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Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variantWebinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Conference papers
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The Treatabolome flags treatable genes and variants: an emerging conceptNC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France
Conference papers
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Quantification of skeletal muscle strength in laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
hal-04189561v1
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Challenges in gene therapy for striated muscle laminopathy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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Solve-NMD in Paris: Project resultsSolve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers
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P431 Steroid treatment may change natural history in congenital laminopathies28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩
Conference papers
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DNA damage repair in LMNA-related congenital muscular dystrophy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩
Conference papers
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Linking actionable genes to the treatabolome in myopathiesNC-IUPHAR Symposium April 2023, Apr 2023, Paris, France
Conference papers
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Steroid treatment may change natural history in congenital laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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Concept de gènes actionnables et application dans le domaine neuromusculaire.25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France
Conference papers
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Recent insights in the pathophysiological mechanisms of striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
hal-04189588v1
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Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RDJournée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France
Conference papers
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Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
hal-04189728v1
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O03 In vivo gene therapy for striated muscle laminopathy28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩
Conference papers
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Insights in the pathophysiological mechanisms of striated muscle LaminopathiesOttawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Conference papers
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Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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Insights in the pathophysiological mechanisms of striated muscle LaminopathiesEuropean Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands
Conference papers
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P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩
Conference papers
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Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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Treatabolome DB: linking gene and variants with treatments for rare diseasesSolve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers
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A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩
Conference papers
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Gene therapy for striated muscle laminopathy (in vivo study)4th International Meeting on Laminopathies, May 2023, Madrid, Spain
Conference papers
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How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic
Conference papers
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Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers
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P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩
Conference papers
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Development of gene therapy for striated muscle laminopathyCure CMD scientific and family conference, Jun 2022, Nashville, United States
Conference papers
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Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Conference papers
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Etude des dommages de l'ADN dans la dystrophie musculaire congénitale liée à LMNA19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference papers
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AAV-driven human BAG3 overexpression unexpectedly exacerbate heart failure in a LMNAH222P DCM mice modelPrintemps de la Cardiologie 2022, Jun 2022, Tours, France. pp.192, ⟨10.1016/j.acvdsp.2022.04.082⟩
Conference papers
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Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)MDUK Muscles Matter online seminar series Congenital muscular dystrophy (CMD), Mar 2022, Virtual conference, United Kingdom
Conference papers
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Gene therapy for striated muscle laminopathy12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
Conference papers
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Cold Case (Season II): TTN deletion described after CNV analysesSolve-RD Annual Meeting 2022, Apr 2022, Virtual conference, Germany
Conference papers
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Striated muscle laminopathies, from gene defects to pathomechanisms and therapeutic approaches: what are we missing?Discovering a cure for LMNA: Current strategies, crazy ideas and future collaborations, Apr 2022, Virtual conference, Netherlands
Conference papers
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Patients’ registries: present and future253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers
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Origin of the increased severity of LMNA-related muscular dystrophy compared with Emery-Dreyfuss muscular dystrophyA hybrid workshop on the nuclear envelope, mechanobiology and rare diseases, Oct 2022, Singapore, Singapore
Conference papers
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Discussion needed on how to define and select non-clinical biomarkers253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers
hal-03984500v1
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The clinico-genetic spectrum of Lamin A/C gene (LMNA) mutationsA hybrid workshop on the nuclear envelope, mechanobiology and rare disease, Oct 2022, Hybrid conference, Singapore
Conference papers
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Table Ronde: Quel avenir pour la recherche sur les maladies rares ?Dix ans de contribution de l’ANR au domaine des maladies rares, Nov 2022, Paris, France
Conference papers
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Gene therapy for striated muscle laminopathiesEuropean Network for Laminopathies Meeting, Sep 2022, Bologna, Italy
Conference papers
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Striated muscle laminopathies: Modifier variants253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands
Conference papers
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The Treatabolome flags treatable genes and variants: an emerging conceptERN-Euro-NMD-Eurordis CETF symposium, Nov 2021, Virtual conference, France
Conference papers
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Molecular pathophysiological mechanisms of Cardiac LaminopathiesBritish Heart Fondation Centre virtual 2021 Symposium, Nov 2021, Virtual conference, United Kingdom
Conference papers
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LMNA (Laminopathy) ResearchCure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States
Conference papers
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Solve-RD: Un projet Européen visant à réduire l’errance diagnostiqueEunjeux et Défis de la Recherche dans les Maladies Rares - Fondation Malaides Rares, May 2021, Conference - Online., France
Conference papers
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The Treatabolome flags treatable genes and variants: an emerging conceptERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany
Conference papers
hal-03989142v1
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History and discovery of Laminopathy , Scientific advances for the development of treatmentsSymposium on Rare Diseases in Puerto Rico from the Capitol, Jul 2021, Virtual conference, Puerto Rico
Conference papers
hal-03984484v1
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Treatabolome database: towards enhancing Rare Diseases’ treatment visibilitySolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers
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Striated muscle of Laminopathies, Scientific advances for the development of treatmentsLMNACardio Foundation meeting, Oct 2021, Virtual conference, Netherlands
Conference papers
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Cold Case: Patient with only one CAPN3 variantSolve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers
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WP3 Task 3. TreatabolomeSolve-RD Annual Meeting, Mar 2020, Barcelona, Spain
Conference papers
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Laminopathy of the striated muscle: from the gene defects to therapeutic approachesInvited Seminar by Prof I Perez at Unidad de Terapia Génica, Instituto de Investigación de Enfermedades Raras, Feb 2020, Madrid, Spain
Conference papers
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Gene therapy for LMNA-related congenital muscular dystrophyCure CMD scientific and family conference, Nov 2020, Virtual conference, United States
Conference papers
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Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathyASSISES DE GÉNÉTIQUE HUMAINE ET MÉDICALE, Jan 2020, Tours, France
Conference papers
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The Concept of TreatabolomeESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom
Conference papers
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Actions RechercheJournée de la Filière en Santé Maladies Neuromusculaire Rares, Filnemus, Oct 2020, Conference - Online., France
Conference papers
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy25th International Congress of the World-Muscle-Society (WMS), Sep 2020, ELECTR NETWORK, France. pp.S47, ⟨10.1016/j.nmd.2020.08.007⟩
Conference papers
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathyNew Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States
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Solved-RD WP3 progress updateSolve-RD Annual Steering Committee Meeting, Sep 2020, Virtual Conference, Germany
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Modelling skeletal muscle laminopathies with human iPS cells and bio-engineered skeletal muscles: Prospects for genetic therapiesESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. pp.OR11
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Laminopathy of the striated muscle: from the gene defects to therapeutic approaches11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING 2019, Jun 2019, Turku, Finland
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New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathiesCongress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164
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Risk stratification for sudden death in laminopathies9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
Conference papers
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Laminopathy of the striated muscle: from the gene defects to therapeutic approaches26th Wilhelm Bernhard Workshop on the Cell Nucleus, May 2019, Dijon, France
Conference papers
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Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD.11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland
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Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩
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LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom
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European Network for Laminopathies management: Network ActivitiesSatellite Meeting European Network for Laminopathies Meeting, Sep 2019, Kings College, London, United Kingdom
Conference papers
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miRNA-processing pathway is impaired in skeletal muscle laminopathies11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland
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TOWARDS THERAPY: REGISTRIES, BIOBANKS, TREATABLE VARIANTSSolve-RD Annual Meeting, Feb 2019, Radboud University Medical Center (UMC), Nijmegen,, Netherlands
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Laminopathy of the striated muscle: from the gene defects to therapeutic approachesSéminaire UMR Inserm 1011 – Université Lille, Apr 2019, Lilles, France
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Keynote Lecture : Laminopathies from the first mutation to therapeutic avenuesRare Diseases Summer School - Rare Disease Initiative Zürich, Jul 2018, Kartause Ittingen, Warth, Switzerland
Conference papers
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Insights in the pathophysiology of LMNA-related congenital muscular dystrophy4th Joint Meeting Belgian-Dutch Neuromuscular Study Group & German Reference Center for Neuromuscular Diseases, May 2018, Valls, Netherlands
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Laminopathies: unveiling the pathophysiologyGordon Research Conference on Intermediate filaments, Jun 2018, Rennaissance Tuscany Il Ciocco, Italy
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Striated muscle Laminopathies from gene defects to pathophysiology mechanisms13th Meeting of the Mediterranean Society of Myology in connection with the 2nd Congress of the Turkish Neuromuscular Society, Jun 2018, Avanos, Cappadocia, Turkey
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The LaminopathiesInvited Seminar by Porf Alessandra Ferlini, May 2018, Ferrara, Italy
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Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
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KLF10 regulates skeletal muscle metabolism in miceAmerican Society for Bone and Mineral Research Annual Meeting, American Society for Bone and Mineral Research, Sep 2018, Montréal, Canada
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Insights in the pathophysiology of LMNA-related congenital muscular dystrophyThe Nuclear Lamina and nuclear organization. Cost School & The Batsheva de Rothschild Seminar., Jun 2017, Yearim, Israel
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A new gene for myopathies with prominent contractures?Journée Filnemus 2017, Nov 2017, Paris, France
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Insights in the pathophysiology of striated muscle Laminopathies2nd International Meeting on Laminopathies, Giovanna Lattanzi, Apr 2017, Bologna, Italy
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Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy.The Pleiotropic Nuclear Envelope, John McIntyre Conference Centre, University of Edinburgh, Aug 2017, Edinburgh (Ecosse), United Kingdom
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Insights in the pathophysiology of striated muscle LaminopathiesWorkshop of COST Action CA15214 An Integrative Action for Multidisciplinary Studies on Cellular Structural Networks, Pavel Hodzak, Mar 2017, Prague, Czech Republic
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Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S195, ⟨10.1016/j.nmd.2017.06.367⟩
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Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy17th International Congress of the World-Muscle-Society (WMS), Oct 2012, Perth, Australia. pp.827-828, ⟨10.1016/j.nmd.2012.06.088⟩
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Epidémiologie descriptive des troubles de santé après mise en place chez les jeunes bovins allotésJournées Nationales des Groupements Techniques Vétérinaires (GTV), May 2007, Nantes, France
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