Maladies Rares : Génétique et Métabolisme

Domaines scientifiques déclarés au RNSR

Panels ERC déclarés au RNSR

Mots-clés des publications HAL repérées

Projets ANR

• Entraînement des neurones du noyau arqué de l’hypothalamus pour le contrôle de la flexibilité métabolique · 2026
• Du multi-omique à la physiopathologie: nouvelles pistes dans le syndrome de Wolfram · 2026
• Régulation de la protéostase mitochondriale par le contrôle qualité associé au ribosome dans la cellule de mammifère: bases moléculaires et relevance physiopathologique · 2025

Publications HAL récentes repérées

• Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftment · 2026

  Résumé de la publication : Genome editing by CRISPR-Cas9-nuclease is promising for gene therapy. However, safety concerns remain. Monitoring ON-target genotoxicity is essential, especially to assay megabasic rearrangements at the targeted locus. Here, we developed a combined single-cell resolution approach with DNA sequencing focused on single nucleotide…

• Paediatric anaesthesia in France: National data on outpatient procedures, emergency admissions, and critical outcomes in 2023 · 2026

  Résumé de la publication : Background: Outpatient paediatric anaesthesia has been promoted as a national objective in France, with a target rate of 80%. However, outpatient care rates vary widely across institutions, reflecting differences not only in organisational models but also in patient demographics, clinical complexity, and…

• Identification of pharmaceuticals and environmental contaminants as obesogens inducing a locomotion-independent thrifty phenotype · 2026

  Résumé de la publication : Obesity is a global pandemic that affects people of all ages. While behavioral, nutritional, and socioeconomic factors all contribute to weight gain, other factors in our immediate environment play an insidious role in the prevalence of obesity. Exposure to environmental and pharmaceutical…

• Long-chain polyunsaturated fatty acids enhance the formation of rotifer dormant encysted embryos · 2026

  Résumé de la publication : Abstract This study uncovers the critical role of dietary n-3 polyunsaturated fatty acids (PUFAs) in the development of dormant embryos, known as resting eggs (REs), in the aquatic rotifer Brachionus plicatilis. REs contained PUFAs, and the maternal diet markedly influenced their levels.…

• Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder · 2026

  Résumé de la publication : Chromatin regulation is critical for neurodevelopment, and its disruption has emerged as a key pathogenic mechanism in neurodevelopmental disease, including autism spectrum disorder (ASD), a condition known for genetic and phenotypic heterogeneity. We previously identified an ASD gene, KDM5A, encoding a histone…