
Rare diseases are a major public health topic because of the difficulty of their management, both in terms of diagnosis and treatment. Composed of a large and heterogeneous group of pathologies, they are individually rare but collectively frequent, with more than 350 million people affected worldwide, including 3 million in France. It is estimated that 80% of them are of genetic origin, 65% are severe and disabling and 50% develop in childhood. But above all, 95% of them have no curative treatment. There is a real need for diagnosis: 25% of patients suffering from these conditions are forced to wait 5 years or more for a diagnosis. This diagnostic wandering delays the implementation of an adapted medical follow-up, the prevention of complications, the development of personalized therapeutic strategies and genetic counseling. Created in 2007 as a scientific cooperation foundation with AP-HP, Inserm, the University of Paris, the AFM, the Fondation Hôpitaux de Paris-Hôpitaux de France and the City of Paris as founding members, the Imagine Institute for Genetic Diseases is a research and care institute, an international leader in the field of rare genetic diseases. It was awarded the IHU label in 2011 in recognition of its translational research activities, and the Carnot Institute label in 2020 in recognition of its commitment to strongly develop its partnership research activities with industry. Located on the campus of the Hôpital Necker (Paris), Imagine is a unique place, bringing together a range of multidisciplinary and multi-professional skills, experts in care, teaching and research, patients and patient associations, all committed to the fight against rare genetic diseases. As part of its societal mission, the Imagine Institute wishes to continue its openness and explore concrete actions of mediation and communication with the general public, and more particularly with young people, on genetic diseases and the advances and hopes brought about by research. It has thus set itself 4 ambitious societal missions: - Disseminate knowledge about rare genetic diseases - To share with as many people as possible the challenges, methods and results of research. - To stimulate vocations as doctors and researchers, particularly among young people. - To work on the social inclusion of patients suffering from rare genetic diseases. In this context, the institute is carrying out various communication and mediation actions for the general public (conferences, visits, etc.), patient associations (annual FAIR forum), as well as school group (visits, mediation workshops, development of new playful formats). These formats take shape both in person and remote, throughout the year, regularly punctuated by regional and national highlights (Fête de la Science, Rare Disease Days, etc.). The researchers are literally the actors of these events, together with the communication service and the person in charge of Science and Society programs. One example is the Bourse de Diffusion Scientifique program, dedicated to doctoral students at the Institut Imagine. Through this program, students have the opportunity to contribute to societal issues related to rare genetic diseases, with an educational and inclusive purpose. SAPS-CSTI-AAPG18/19 call for proposals concerns a maximum of 5 innovative projects of the institute for which we propose 3 main approaches of communication and scientific mediation: inclusion of dedicated contents within the next Forum of patient associations, development of a ludic mediation format under the format of an Escape Game, construction of transdisciplinary "Regards Croisés" conferences around the innovations and approaches of these projects.

Rare diseases are a major public health topic because of the difficulty of their management, both in terms of diagnosis and treatment. Composed of a large and heterogeneous group of pathologies, they are individually rare but collectively frequent, with more than 350 million people affected worldwide, including 3 million in France. It is estimated that 80% of them are of genetic origin, 65% are severe and disabling and 50% develop in childhood. But above all, 95% of them have no curative treatment. There is a real need for diagnosis: 25% of patients suffering from these conditions are forced to wait 5 years or more for a diagnosis. This diagnostic wandering delays the implementation of an adapted medical follow-up, the prevention of complications, the development of personalized therapeutic strategies and genetic counseling. Created in 2007 as a scientific cooperation foundation with AP-HP, Inserm, the University of Paris, the AFM, the Fondation Hôpitaux de Paris-Hôpitaux de France and the City of Paris as founding members, the Imagine Institute for Genetic Diseases is a research and care institute, an international leader in the field of rare genetic diseases. It was awarded the IHU label in 2011 in recognition of its translational research activities, and the Carnot Institute label in 2020 in recognition of its commitment to strongly develop its partnership research activities with industry. Located on the campus of the Hôpital Necker (Paris), Imagine is a unique place, bringing together a range of multidisciplinary and multi-professional skills, experts in care, teaching and research, patients and patient associations, all committed to the fight against rare genetic diseases. As part of its societal mission, the Imagine Institute wishes to continue its openness and explore concrete actions of mediation and communication with the general public, and more particularly with young people, on genetic diseases and the advances and hopes brought about by research. It has thus set itself 4 ambitious societal missions: - Disseminate knowledge about rare genetic diseases - To share with as many people as possible the challenges, methods and results of research. - To stimulate vocations as doctors and researchers, particularly among young people. - To work on the social inclusion of patients suffering from rare genetic diseases. In this context, the institute is carrying out various communication and mediation actions for the general public (conferences, visits, etc.), patient associations (annual FAIR forum), as well as school group (visits, mediation workshops, development of new playful formats). These formats take shape both in person and remote, throughout the year, regularly punctuated by regional and national highlights (Fête de la Science, Rare Disease Days, etc.). The researchers are literally the actors of these events, together with the communication service and the person in charge of Science and Society programs. One example is the Bourse de Diffusion Scientifique program, dedicated to doctoral students at the Institut Imagine. Through this program, students have the opportunity to contribute to societal issues related to rare genetic diseases, with an educational and inclusive purpose. SAPS-CSTI-AAPG18/19 call for proposals concerns a maximum of 5 innovative projects of the institute for which we propose 3 main approaches of communication and scientific mediation: inclusion of dedicated contents within the next Forum of patient associations, development of a ludic mediation format under the format of an Escape Game, construction of transdisciplinary "Regards Croisés" conferences around the innovations and approaches of these projects.
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