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In vivo gene editing has been achieved in a phase I clinical trial and results in a strong reduction of the level of a pathogenic protein. While preliminary, these results open the way for many applications in gene therapy.

International audience

Hutchinson-Gilford Progeria (acute premature aging) is caused by a de novo point mutation in the lamin A gene. Recently, this mutation has been accurately corrected by base editing in patient cell lines and in a mouse model, resulting in nearly complete reversal to a normal phenotype. This success opens the perspective for clinical applications in Progeria and other diseases.

International audience

Star Wars, a "general public" film saga, raises questions about human nature and transhumanism. It features different characters who are neither "real" humans nor robots; there are creatures that can be likened to advanced humans (cyborgs, chimeras or genetically-modified humans). Based on the "Star Wars" movie, we will approach some ways of modifying the human person both in his body and in his consciousness and we will wonder about the man of tomorrow by asking ourselves if George Lucas (director of the first film released) might have not been a visionary of the men of tomorrow.George Lucas : Prophète du transhumanisme ?La Guerre des étoiles, saga cinématographique « grand public », permet de se questionner sur la nature humaine et sur le transhumanisme. Elle met en effet en scène différents personnages qui ne sont ni de « vrais » humains, ni des robots, des créatures pouvant être assimilées à des humains évolués (des cyborgs, des chimères ou des humains génétiquement modifiés). À partir de cette approche cinématographique, nous aborderons certains moyens de modification de la personne humaine à la fois dans son corps et dans sa conscience, et nous nous interrogerons sur l’homme de demain, en se demandant si George Lucas (réalisateur du premier film) n’était pas un visionnaire des hommes de demain.

"Biotherapies" include both biopharmaceuticals and cell and gene therapies. Biopharmaceuticals are macromolecules created by biotechnologies. In the case of monoclonal antibodies, the starting dose to be given to Humans is difficult to select because there may be no relevant animal model. At the time of registration, the knowledge of the mechanism of action of monoclonal antibodies is insufficient and cohort follow up studies are needed. Genetic predisposition and pharmacokinetics are interindividual sources of variability. Some of the adverse drug reactions are predictable but others are unexpected or even paradoxical. Cell and "ex vivo" gene therapies consist in the manipulation of collected cells and their infusion in autologous or allogenic clinical settings. The methodology of the clinical development of drugs cannot be readily applied to these therapies. On the other hand, "in vivo" gene therapy uses vectors or macromolecules which can be considered as biopharmaceuticals.

Les carcinomes nasopharyngés interpellent cliniciens et biologistes dans de nombreuses disciplines dont l’épidémiologie, la génétique, la virologie et l’immunologie. Ces tumeurs ont une répartition géographique tout à fait surprenante, faible dans la plus grande partie du monde, leur incidence est élevée en Extrême-Orient et en Afrique du Nord. Elles sont associées de façon constante au virus d’Epstein-Barr et leur étude revêt donc une importance particulière à l’heure où le virus d’Epstein-Barr est incriminé dans d’autres affections malignes humaines (carcinomes gastriques, mammaires et thyroïdiens, par exemple). Favoriser les échanges entre la recherche clinique sur les carcinomes nasopharyngés au Sud et la recherche fondamentale au Nord, tel était l’objectif de l’Atelier Nord-Sud sur les carcinomes nasopharyngés qui s’est tenu à l’Institut Gustave Roussy début décembre 2003., Nasopharyngeal carcinomas (NPC) challenge clinicians and biologists in various fields including epidemiology, genetics, virology and immunology. These tumours have a striking geographical distribution. They are constantly associated with the Epstein-Barr virus (EBV) and contain a massive lymphocytic infiltrate. Their study has major implications especially at this moment while a pathological role of EBV is suspected in several other human epithelial malignancies (for example gastric, mammary and thyroid carcinomas). The North-South Workshop on Nasopharyngeal Carcinoma was held at the Institut Gustave-Roussy in early December 2003. Its main goal was to support the exchanges between clinical research on NPC in the South and basic research in the North. With regard to epidemiology and genetics, the main information was the possible existence of several susceptibility genes (including two of them on the 4p and 5p chromosomes). In virology, participants have emphasized the selection of peculiar EBV variants within the malignant cells and the expression of novel oncogenic viral proteins : LMP2 and BARF1. Cellular gene alterations also contribute to NPC development, especially inactivation of tumor suppressor genes located on the 3p chromosome. Therapeutic research was not forgotten. Hope of higher rate of cure relies on improved ballistic processes in radiotherapy (IMRT) and on the development of targeted therapeutics : induction of the lytic/productive viral cycle, gene therapy with conditional replicative adenoviruses, antitumor vaccination directed against the viral protein LMP2.