Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE)

Laboratory presentation

INTEGRARE (Integrated Genetic Approaches and New Therapies for Rare Diseases, UMR_S951) is a research unit specializing in translational research and gene therapy of rare genetic diseases. The unit is mainly interested in myopathies, metabolic diseases, blood diseases or immune deficiency. Using recombinant viral vectors (AAV and lentiviral vectors) or CRISPR technologies, researchers design novel therapeutic approaches, defining the pharmacological parameters and the safety of the approaches, and study how to overcome the roadblocks notably to avoid immune responses to gene therapy.
Promising therapeutic candidates are developed towards the clinic through Genethon's therapeutic programs. Several clinical trials of gene therapy are currently underway.
INTEGRARE is a partnership between Généthon, (a private R et D organization created by AFM / Téléthon), Inserm and the Universities (University of Evry / Paris Saclay University, EPHE).

The 20 latest publications

Title Authors Publication date Source
Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor Elena Barbon, Solenne Marmier, Aboud Sakkal, Fanny Collaud, Severine Charles, Giuseppe Ronzitti, Federico Mingozzi 04/01/23 Gene Therapy
Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B Novella Tedesco, Pierre Romain le Brun, Philippe Veron 03/09/23 Molecular Therapy - Methods and Clinical Development
A Simple, Semi-Quantitative Acyl Biotin Exchange-Based Method to Detect Protein S-Palmitoylation Levels Valentina Buffa 03/01/23 Membranes
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle Tudor Manoliu, Corinne Laplace-Builhé 01/10/23 Proceedings of the National Academy of Sciences of the United States of America
Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy Pasqualina Colella, Federico Mingozzi 01/01/23 Journal of Inherited Metabolic Disease
What’s next in gene therapy for Crigler-Najjar syndrome? Giuseppe Ronzitti 01/01/23 Expert Opinion on Biological Therapy
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice Pasqualina Colella, Federico Mingozzi 12/01/22 Nature Communications
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression Mario Amendola 12/01/22 Nature Communications
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies Ana Buj Bello 12/01/22 Acta neuropathologica communications
CRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy Mario Amendola 10/21/22 Stem cells translational medicine
Author Correction: Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott–Aldrich syndrome (Nature Medicine, (2022), 28, 1, (71-80), 10.1038/s41591-021-01641-x) A. Galy 10/01/22 Nature Medicine
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders Edith Renaud-Gabardos, Louise Mangin, Christian Leborgne, Giuseppe Ronzitti, Federico Mingozzi, Ana Buj-Bello 09/23/22 Science advances
Durable immunogenicity, adaptation to emerging variants, and low-dose efficacy of an AAV-based COVID-19 vaccine platform in macaques Giuseppe Ronzitti 09/07/22 Molecular Therapy
Lentiviral standards to determine the sensitivity of assays that quantify lentiviral vector copy numbers and genomic insertion sites in cells Guillaume Corre, Ababacar Seye, Sophie Frin, Maxime Ferrand, Céline J. Rocca, A. Galy 09/01/22 Gene Therapy
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA Isabella Ragone, Giuseppe Ronzitti 08/04/22 American Journal of Human Genetics
Modern therapeutic approaches to liver-related disorders Antoine Gardin 06/01/22 Journal of Hepatology
Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies Valle Montalvo-Romeral, Giuseppe Ronzitti 06/01/22 International Journal of Molecular Sciences
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination Lucile Hoch, Celine Bruge, Manon Benabides, Emilie Pellier, Johana Tournois, Gurvan Mahé, Xavier Nissan 04/27/22 Frontiers in Pharmacology
Overcoming the Challenges Imposed by Humoral Immunity to AAV Vectors to Achieve Safe and Efficient Gene Transfer in Seropositive Patients David Alexandre Gross, Novella Tedesco, Christian Leborgne, Giuseppe Ronzitti 04/07/22 Frontiers in Immunology
Co‐Administration of Simvastatin Does Not Potentiate the Benefit of Gene Therapy in the mdx Mouse Model for Duchenne Muscular Dystrophy Nathalie Bourg, Ai Vu Hong, William Lostal, Abbass Jaber, Nicolas Guerchet, Guillaume Tanniou, Fanny Bordier, Emilie Bertil‐froidevaux, Christophe Georger, Nathalie Daniele, Isabelle Richard, David Israeli 02/01/22 International Journal of Molecular Sciences

Number of publications of the laboratory by scientific field (2016-2021)

Every paper can be classified in one or more scientific fields. The figure below shows the lab's number of publications in each scientific field, according to the ASJC classification (Elsevier)