News Release

Genethon’s latest research, including advances in gene editing and AAV delivery vectors for gene therapy, to be featured at European Society for Gene and Cell Therapy, Oct. 11-14, 2022

The gene therapy pioneering organization’s scientists will make multiple presentations on research aimed at curing rare diseases

Reports and Proceedings


“Our scientists will be presenting our most recent progress in novel therapeutic approaches, new vector development, genome editing strategies, improvement of biomanufacturing, as well as CAR-T cell therapies adapted to neuromuscular diseases,” said Frederic Revah, Genethon CEO. “These researchers are part of a team of more than 200 scientists and professionals who have pioneered the development of gene therapies for more than 30 years.”

On Thursday, October 13, Anne Galy, Ph.D., Director of Genethon’s Mixed Research Unit, will make an oral presentation in the Advanced therapies with CAR-T cells session at 8:30 am BST, in the Lomond Suite. Dr. Galy’s presenation is titled, “Immunotherapy treatment with FAP-specific CAR-T cells can reduce skeletal muscle fibrosis in a murine model of Duchenne muscular dystrophy.”

Eight Genethon scientists also will make Poster Presentations:

Comparative evaluation of genome editing and RNA interference for substrate reduction therapy (SRT) in two animal models of glycogenosis – Fanny Collaud – P673

            Pompe disease is an inherited metabolic disorder, characterized by a pathological            build-up of glycogen in lysosomes. Thanks to a comparative study in mice, the team demonstrated the interest of an SRT approach based on an RNA interference       mechanism to prevent glycogen accumulation in skeletal muscles. These results   highlight the therapeutic potential of SRT for all muscular GSDs.

Comparison of the effects of lentiviral vectors and of rAAV6 on CD34+ cells at the transcriptional and DNA methylation levels – Guillaume Corre – P628

            In this study, the team investigated the effect of lentiviral and AAV transduction on        the DNA methylation of CD34+ cells. Such modifications may induce changes in gene      expression and be of functional importance for ex-vivo gene therapy.

Characterization and CRISPR-based treatment of DmdΔ45 rat model  - Cynthia Daoud – P677

            Using the CRISPR/Cas9 technology, we generated a new DMD rat model with a             deletion of exon 45, the most common single exon deletion found in the DMD           population. Several gene therapy approaches have been developed and tested on the DmdΔ45 rat model. This study presents an in-depth characterization of the DmdΔ45        rat and an investigation of the emergence of revertant fibers in the model, as well as        the testing of SaCas9 gene therapy approaches in vitro.


From AAV virus to AAV vector: characterization of a collection of AAV capsid variants isolated from human liver – Tiziana La Bella – P017

            The high versatility of AAV vectors is mostly due to the large number of available          capsids variants, each varying for transduction properties. A series of 59 novel wild         type capsid variants isolated from human liver was characterized in terms of       manufacturability, in vitro and in vivo transduction efficiency. This study provides          important insights in the structure/function of human wild-type AAV capsids and     support the therapeutic potential of natural AAV capsids for central nervous system        and muscle targeting.


Improvement of adeno-associated viral vector Production using “HEK+ ” cells, deleted of SV40 large T antigen encoding sequences – Samia Martin

            Genethon and Yposkesi teams have recently generated a new clonal cell line (called             HEK+) derived from the HEK293T cell line by removing the SV40 T antigen     encoding sequence  via Crispr-Cas9 genome editing.

            This cell line which grows in suspension in serum free media has shown an         improvement of rAAV productivity with different serotypes compared to the parental        clone and a stability overtime.

Development of new AAV hybrid capsids with enhanced liver gene transfer properties – Justine Nozi – P571

            Domain swapping was used to design new AAV hybrid capsids in order to improve        liver targeting. This work provided new understanding on capsid modification and           liver targeting paving the way for a new generation of AAV capsids with improved       properties

Characterization of CRISPR/Cas9-induced genomic alterations and AAV targeted integration in human HSPC – Alexandra Tachtsidi – P450

            Recent studies show that the use of CRISPR/Cas9 technologies can result into     extensive on-target DNA damage. Additionally, little is yet known about the CRISPR            mediated targeted integration outcomes in cell lines or clinically relevant cells. The         team presents a detailed analysis of the genomic events occurring upon CRISPR/Cas9           or Cas9 D10A mediated gene editing, alone or in combination with targeted           integration of a therapeutic donor DNA

A novel muscle-specific promoter to improve muscle targeting while reducing liver overload – Pauline Vidal – P092

            Muscle-directed transgene expression with reduced off-targets is one of the biggest         challenges for AAV-based gene therapy. With combination of hepatic enhancer and       muscle promoter, the team identified a promter up to 15-fold increase in transgene           expression in cardiac and skeletal muscles compared to the parental muscle promoter.     A second generation of promoters was derived, with a similar expression than the             ubiquitous CAG promoter and a 15-fold increase in transgene expression, compared to   the promoter developed during the first generation.

About Genethon

A pioneer in the discovery and development of gene therapies for rare diseases, Genethon is a unique non-profit organization created by a patient association, the AFM-Telethon. A first gene therapy drug, to which Genethon contributed, has obtained marketing for spinal muscular atrophy. With 200+ scientists and professionals, Genethon is pursuing its mission to bring life-changing therapies to patients suffering from rare genetic diseases. 12 products resulting from Genethon’s research are in clinical trials for eye, liver, blood, immune system and muscle diseases. A further 7 products are in the preparation phase for clinical trials over the next five years. Find out more:

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