Un Mooc dédié à la didactique du FLE : quelle médiation des savoirs et quels outils pour développer l'écrit ?

« Moi, prof de FLE » est un projet de MOOC destiné à des (futurs) enseignants de français langue étrangère. Constitué de 8 modules interactifs, ce MOOC vise à développer les connaissances et compétences des participants en matière de gestion des interactions (orales et écrites) et des ressources (notamment numériques), mais aussi le développement des compétences grammaticales et interculturelles des apprenants. À partir d’exemples concrets d’activités, nous interrogerons d’un point de vue didactique deux aspects liés à ce dispositif d’enseignement/ apprentissage innovant : la médiation des savoirs et les outils de formation à distance, en particulier pour le développement des compétences écrites

Un MOOC sur l’enseignement du français langue étrangère : quelle médiation des savoirs?

peer reviewedA partir d’exemples concrets de ressources et d’activités pédagogiques, nous interrogerons la médiation des savoirs induite par Le MOOC ULiège « Moi, prof de FLE » : quel est le potentiel didactique du MOOC et son effet sur le processus de médiation des savoirs ? Que la médiation soit humaine, technique ou documentaire, le dispositif détermine la transposition didactique : la posture de l’enseignant, celle des participants, la nature des savoirs et des discours en circulation. Nous analyserons plus particulièrement les spécificités de l’écriture communicationnelle et la polyphonie énonciative du discours de l’enseignant, ainsi que les types de tâches individuelles et collaboratives et leur impact sur la coconstruction collaborative et ouverte des savoirs

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

OBJECTIVE: To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations. METHODS: Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI. RESULTS: We identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported. CONCLUSIONS: Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology

Combining gene mapping and phenotype assessment for fast mutation finding in non consanguineous autosomal recessive retinitis pigmentosa: mutation finding in non consanguineous families

International audienceAmong inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently known that account for ~60 % of patients. Molecular diagnosis thus requires the tedious systematic sequencing of 506 exons. To rapidly identify the causative mutations, we devised a strategy that combines gene mapping and phenotype assessment in small non consanguineous families. Two unrelated sibships with arRP had whole-genome scan using SNP microchips. Chromosomal regions were selected by calculating a score based on SNP coverage and genotype identity of affected patients. Candidate genes from the regions with the highest scores were then selected based on phenotype concordance of affected patients with previously described phenotype for each candidate gene. For families RP127 and RP1459, 33 and 40 chromosomal regions showed possible linkage, respectively. By comparing the scores with the phenotypes, we ended with one best candidate gene for each family, namely TULP1 and C2ORF71 for RP127 and RP1459, respectively. We found that RP127 patients were compound heterozygous for 2 novel TULP1 mutations, p.Arg311Gln and p.Arg342Gln, and that RP1459 patients were compound heterozygous for 2 novel C2ORF71 mutations, p.Leu777PhefsX34 and p.Leu777AsnfsX28. Phenotype assessment showed that TULP1 patients had severe early onset arRP and that C2ORF71 patients had a cone rod dystrophy type of arRP. Only 2 affected individuals in each sibship were sufficient to lead to mutation identification by screening the best candidate gene selected by a combination of gene mapping and phenotype characterization

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.

International audiencePURPOSE:To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report six novel mutations, to characterize the biochemical features of a recurrent novel mutation and to study the clinical features of adRP patients.DESIGN:Retrospective clinical and molecular genetic study.METHODS:Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot.RESULTS:We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1 to 0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families.CONCLUSIONS:The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases which could be underdiagnosed

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

<p>Abstract</p> <p>Background</p> <p>Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.</p> <p>Methods</p> <p>Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.</p> <p>Results</p> <p>We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, <it>CERKL</it>, <it>BBS5, KLHL23, NEUROD1</it>, and <it>SF3B1 </it>within this locus, were not mutated.</p> <p>Conclusion</p> <p>A novel locus for adCRD, named <it>CORD12</it>, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.</p

Erasmus+ SERAFIN Project - Report on the reception and language training at the university for students in exile(s)

Ce rapport répond à l’un des objectifs du projet européen SERAFIN (Projet européen Erasmus+ 2022, Soutien à la formation des enseignants de langues pour favoriser l'inclusion des étudiants réfugiés dans l'enseignement supérieur) visant à donner un aperçu de l’accueil des personnes exilées (réfugiées, ou en cours de régularisation, demandeuses d’asile ou de protection subsidiaire et apatrides) inscrites dans les établissements universitaires des régions et/ou villes des institutions partenaires du consortium SERAFIN. Il s’agit d’examiner les structures d’accueil, le processus d'accompagnement ainsi que les programmes de formation linguistique existants, et de faire écho aux besoins des enseignant·es et des étudiant·es. Le rapport est basé sur des enquêtes qualitatives menées dans les universités de Grenoble (France), Liège (Belgique), Luxembourg, Rabat (Maroc), Saarbrücken (Allemagne) et Sherbrooke (Canada). Les données ont été récoltées par les membres du consortium SERAFIN et analysées entre octobre 2022 et juin 2023. Le présent rapport, destiné en priorité aux responsables institutionnels et au personnel éducatif, offre une synthèse des éléments-clés qui ressortent de chaque enquête. Il vise à améliorer la compréhension des besoins et des problématiques identifiées localement, à sensibiliser aux enjeux linguistiques et interculturels de l'éducation des étudiant·es en situations (au pluriel car nécessairement diverses) de migration forcée et à nourrir la réflexion sur la mise en place de programmes d'accueil et de formation linguistique efficaces, adaptés aux besoins réels des enseignant·es et des étudiant·es.Soutien à la formation des enseignants de langues pour favoriser l'inclusion des étudiants réfugiés dans l'enseignement supérieu