ASHG 2026 · Tier 2–3 Academic

Institut des Maladies Génétiques Imagine at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Paris, France

Institut des Maladies Génétiques Imagine at ASHG 2026 in Montréal: 5 presentations (4 posters, 1 platform talk); 3 research groups.

presentations on the program

research groups identified

Reviewers’ Choice abstracts

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Organization	ASHG 2026 Attendance
Institut des Maladies Génétiques Imagine Paris, France	2 PhD Students · 1 PI · 1 Staff Scientist
Genetics of Developmental Disorders Labinstitutimagine.org/en/jeanne-amiel-and-laurence-legeai-mallet-75 Wet lab~28 people Uses zebrafish models with precise genome editing, primary cells and 2D/3D patient iPSCs. Studies rare developmental, skeletal, craniofacial and nervous-system disorders toward therapeutic development. Funded by ANR, Fondation maladies rares +4 more › Mécénat des Mutuelles AXA, AXA Head and Heart Chair · since January 2023 “The “Head and Heart” Chair is supported by the Mécénat des Mutuelles AXA as main patron.” ANR · active “ANR - logo” Fondation maladies rares · active “Logo Fondation maladies rares” +3 more on the lab page Source: lab pages 7 platforms and techniques › Runs Zebrafish disease models, 2D/3D patient iPSC-based models Techniques Precise genome editing, Animal models, Primary cells, Patient-derived iPSCs, 2D/3D iPSC cell-based models Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm De novo mutations of Asp630 in PLCB4 cause a novel syndrome comprising cardiovascular, pigmentation and neurodevelopmental defects Mendelian Phenotypes Collaborators: University of Calgary, Columbia University Irving Medical Center +6 more Genotype-phenotype correlationsCardiovascular systemCharacterization of syndromesMendelian disorder Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Knock-in mice harboring an Auriculocondylar syndrome-causing variant in phospholipase-C beta 4 (PLCB4) display anomalies of the jaw skeleton, skull base, ossicles and neonatal breathing Mendelian Phenotypes Mendelian disorderModel organismsPhenotype
Clinical Bioinformatics Labinstitutimagine.org/en/RausellLab Dry lab~18 people Develops machine-learning methods for clinical, genomic, multi-omic, single-cell and exome/genome sequencing data. Supports genetic-variant interpretation, cell identification and rare-disease diagnosis. 17 papers since 2024 › PFMG2025–integrating genomic medicine into the national healthcare system in France The Lancet Regional Health - Europe, 2025 Smoking changes adaptive immunity with persistent effects Nature, 2024 The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients European Journal of Human Genetics, 2024 Source: OpenAlex author A5005067371 Funded by Inserm, Tremplin Carnot Imagine +9 more › Inserm · active “Inserm” Tremplin Carnot Imagine · active “Tremplin Carnot Imagine” ANR · active “ANR” +8 more on the lab page Source: lab pages 10 platforms and techniques › Analyzes single-cell RNA sequencing, whole-exome sequencing, whole-genome sequencing Techniques machine learning, multivariate statistical modeling, gradient tree boosting, graph neural networks, random-walk diffusion, graph integration, functional variant annotation Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm PAGAN predicts digenic interactions by generalizing single-gene representations in biological networks Artificial Intelligence and Machine Learning Identification of disease genesBioinformaticsComputational toolsMachine learning
Génétique Ophtalmologique (GO)institutimagine.org/fr/jean-michel-rozet-192 Wet + dry lab~24 people Studies hereditary retinal, optic-nerve and ocular-development disorders using OMIC analyses and next-generation sequencing. Uses clinical, molecular and genetic data from family cohorts. 17 papers since 2024 › Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules Science, 2024 Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies BMC Medical Informatics and Decision Making, 2024 Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia International Journal of Molecular Sciences, 2024 Source: OpenAlex author A5068947363 Funded by PHRC › PHRC, Programme national de recherche clinique · active “le groupe dirige un programme national de recherche clinique (PHRC)” Source: lab pages 9 platforms and techniques › Analyzes OMIC analyses, High-throughput sequencing, Whole-exome sequencing, Targeted exome sequencing, Whole-genome sequencing Techniques Genetic mapping, Positional cloning, Candidate-gene approach, Fibroblast biochemical studies Source: lab pages No openings posted	Talk Sat Oct 24 9:45 am Novel role of DDX41, a cancer-associated RNA helicase, in inherited retinal dystrophies Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms Collaborators: Institute of Molecular and Clinical Ophthalmology Basel, University of Oxford +12 more NeurodegenerationIdentification of disease genesVisual systemsModel organisms
1 more presenter — research group not yet identified

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