Connecting Electronic Health Records to a Biomedical Knowledge Graph to Link Clinical Phenotypes and Molecular Endotypes in Atopic Dermatitis

Publisher: Nature Scientific Reports Authors: Francesca Frau, Paul Loustalot, Margaux Törnqvist, Nina Temam, Jean Cupe, Martin Montmerle, Franck Augé View Publication Abstract Precision medicine is defined by the U.S. Food & Drug Administration as “an innovative approach to tailoring disease prevention and treatment that considers differences in people’s genes, environments, and lifestyles”. To succeed in […]

Identification of risk profiles for liver injury in adults with multiple sclerosis using artificial intelligence method

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Event: The Liver Meeting – AASLD (American Association for the Study of Liver Diseases) 2024, San Diego, California, USA Authors: Dominique Larrey, Fang Liz Zhou, Claire Brulle-Wohlhueter, Myriam Benamor, Jeffrey Chavin, Neda Razaz, Raphael Bejuit, Julien Dauriat, Théophile Reppelin, Romane Péan, Sam Ekhtiari, Nicolas Wagner, Fred Lublin View Poster Background The evolution of multiple sclerosis (MS) […]

Identification of risk profiles for liver injury in adults with multiple sclerosis using artificial intelligence method

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Authors: Dominique Larrey, Fang Liz Zhou, Claire Brulle-Wohlhueter, Myriam Benamor, Jeffrey Chavin, Neda Razaz, Raphael Bejuit, Julien Dauriat, Théophile Reppelin, Romane Péan, Sam Ekhtiari, Nicolas Wagner, Fred Lublin Event: Congrès AFEF (Association Française pour l’Étude du Foie) View Poster Introduction et Objectif L’évolution du traitement de la sclérose en plaques (SEP) au cours des deux dernières […]

Analyzing Recurrent Events in Multiple Sclerosis: A Review of Statistical Models with Application to MSOAC Trial

Event: ECTRIMS 2024, Copenhagen, Denmark Authors: D. Herman, J. Tanniou, N. Lambert, P. Loustalot, Q. Pilard View Poster Introduction In Multiple Sclerosis (MS), patients are likely to face repeated event such as confirmed disability progression (CDP). However, clinical trials often focus on analyzing time to first events, ignoring subsequent events, which are of clinical importance, despite the availability of statistical […]

Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD

Event: WORLDSymposium 2024 San Diego, USA Authors: M. Domenica Cappellini, R. Giugliani, M. Törnqvist, P. Guilmin, C.Clémente, M. Montmerle, A. Chiorean, T. Reppelin, Stefaan Sansen, Alexandra Dumitriu, Neha Shah, Maja Gasparic View Poster Abstract  Acid sphingomyelinase deficiency (ASMD) is a rare and debilitating lysosomal storage disease and delays in diagnosis are common.  We employed machine learning (ML) on electronic health […]

Artificial Intelligence (AI) ToOLs for Outbreak Detection and response: a transnational platform for surveillance, monitoring and decision support

Event: ISPOR Europe 2023, Copenhagen, Denmark  Authors: M. Génin, J. Botz, L. Coudeville, M. Eisenlauer, T. Fauvel, F. Huschka, N. Lambert, D. Wang, V. Bosch Castells, C. Commaille-Chapus, B. Frandji, M. Haberstroh, JY. Robin, P. Roehn, H. Sippel, P. Thiele, E. Thommes, C. Weber, B. Amzal, H. Fröhlich, A. Kannt, C. Mahé View Poster Objectives […]

Machine learned decision tree for diagnosis of ASMD among patients with unexplained Interstitial Lung Disease

Event: European Respiratory Society (ERS) International Congress 2023, Milan, Italy Authors: I. Noth, F. Bonella, W.A. Wuyts,P. Guilmin, M. Törnqvist, S. Sansen, A. Dumitriu, N. Shah, M. Gasparic, M. Montmerle View Poster Background Patients with acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, suffer interstitial lung disease (ILD) as a common clinical manifestation. Patients […]

Development of a rare disease algorithm to identify persons at risk of Gaucher disease using Electronic Health Records (EHR) in the United States

Publisher: Orphanet Journal of Rare DiseasesAuthors: A. Wilson, A. Chiorean, M. Aguiar, D. Sekulic, P. Pavlick, N. Shah, L. Sniderman King, M. Génin, M. Rollot, M. Blanchon, S. Gosset, M. Montmerle, C. Molony, A. Dumitriu View publication Background Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, […]

L’intelligence artificielle au service de la modélisation de maladies en vie réelle : vision, exemples et impact sur l’évaluation des médicaments

Event: Colloque de Données de Santé en vie réelle, AFCROs 2023, Boulogne-Billancourt, France Authors: M. Génin, M. Rollot, A. Movschin, B. Amzal, J. Tanniou View Poster Introduction Le rôle des données de vie réelle (RWD) devient de plus en plus important dans les évaluations réglementaires et HTA, en compléments des essais randomisés (RCT), notamment pour anticiper […]