Centre d’histoire et de théorie des arts

Séminaire collectifAvec la participation de Sylviane Agacinski, Jacques Aumont, Jean-Claude Bonne, Giovanni Careri, Annie Cohen-Solai, Danièle Cohn, Georges Didi-Huberman, Patricia Falguières, André Gunthert, François Lissarrague, Éric Michaud Temporalités de l’art Nous avons continué à explorer différents aspects de la question de la temporalité de l’art aussi bien du point de vue du temps de l’œuvre que du point de vue du temps des opérations de production et de réception des œuvres. Patric..

Centre d’histoire et de théorie des arts

Séminaire collectifAvec la participation de Sylviane Agacinski, Jacques Aumont, Jean-Claude Bonne, Giovanni Careri, Annie Cohen-Solai, Danièle Cohn, Georges Didi-Huberman, Patricia Falguières, André Gunthert, François Lissarrague, Éric Michaud Temporalités de l’art Nous avons continué à explorer différents aspects de la question de la temporalité de l’art aussi bien du point de vue du temps de l’œuvre que du point de vue du temps des opérations de production et de réception des œuvres. Patric..

Centre d’histoire et de théorie des arts

Sylviane Agacinski, Daniel Arasse, Jacques Aumont, Jean-Claude Bonne, Giovanni Careri, Annie Cohen-Solai, Danièle Cohn, Georges Didi-Huberman, Patricia Falguières, André Gunthert, François Lissarrague, Éric Michaud Temporalités de l’art Le séminaire s’est déroulé sur six séances qui ont été autant de façons différentes de poser la question de la relation entre les temporalités de l’histoire et celles de l’art. L’accent a été mis sur le présent, conçu à la fois comme temps présent et comme tem..

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Sous la direction de Giovanni CareriAvec la participation de Sylviane Agacinski, Jacques Aumont, Jean-Claude Bonne, Stéphane Breton, Annie Cohen-Solai, Danièle Cohn, Jean-Paul Colleyn, Michel de Fornel, Brigitte Derlon, Georges Didi-Huberman, Pierre Encrevé, Patricia Falguières, André Gunthert, Yves Hersant, François Lissarrague, Éric Michaud, Jean-Claude Penrad, Jean-Claude Schmitt, Carlo Severi et Éliane de Latour Le programme de cette année a été essentiellement consacré à l’approche anthr..

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Sous la direction de Giovanni CareriAvec la participation de Sylviane Agacinski, Jacques Aumont, Jean-Claude Bonne, Stéphane Breton, Annie Cohen-Solai, Danièle Cohn, Jean-Paul Colleyn, Michel de Fornel, Brigitte Derlon, Georges Didi-Huberman, Pierre Encrevé, Patricia Falguières, André Gunthert, Yves Hersant, François Lissarrague, Éric Michaud, Jean-Claude Penrad, Jean-Claude Schmitt, Carlo Severi et Éliane de Latour Le programme de cette année a été essentiellement consacré à l’approche anthr..

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Participants : Sylviane Agacinski, Daniel Arasse, Jacques Aumont, Jean-Claude Bonne, Stéphane Breton, Giovanni Careri, Annie Cohen-Solal, Danièle Cohn, Jean-Paul Colleyn, Michel de Fornel, Brigitte Derlon, Georges Didi-Huberman, Pierre Encrevé, Patricia Falguières, André Gunthert, Yves Hersant, Éliane de Latour, François Lissarrague, Éric Michaud, Jean-Claude Penrad, Jean-Claude Schmitt, Carlo Severi La fabrique des images. Politiques de l’image Le séminaire de la filière « Images » a été cet..

Filière « Images »

Participants : Sylviane Agacinski, Daniel Arasse, Jacques Aumont, Jean-Claude Bonne, Stéphane Breton, Giovanni Careri, Annie Cohen-Solal, Danièle Cohn, Jean-Paul Colleyn, Michel de Fornel, Brigitte Derlon, Georges Didi-Huberman, Pierre Encrevé, Patricia Falguières, André Gunthert, Yves Hersant, Éliane de Latour, François Lissarrague, Éric Michaud, Jean-Claude Penrad, Jean-Claude Schmitt, Carlo Severi La fabrique des images. Politiques de l’image Le séminaire de la filière « Images » a été cet..

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases’ patients and their families. Aims: This paper aims to provide guidance and give detailed instructions on how to write homogeneous systematic reviews of rare diseases’ treatments in a manner that allows the capture of the results in a computer-accessible form. The published results need to comply with the FAIR guiding principles for scientific data management and stewardship to facilitate the extraction of datasets that are easily transposable into machine-actionable information. The ultimate purpose is the creation of a database of rare disease treatments (“Treatabolome”) at gene and variant levels as part of the H2020 research project Solve-RD. Results: Each systematic review follows a written protocol to address one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data capture forms should be built to facilitate the filling of a data capture spreadsheet and to record the application of the inclusion and exclusion criteria to each search result. A PRISMA flowchart is required to provide an overview of the processes of search and selection of papers. A separate table condenses the data collected during the Systematic Review, appraised according to their level of evidence. Conclusions: This paper provides a template that includes the instructions for writing FAIR-compliant systematic reviews of rare diseases’ treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock