Des sépultures du Ier s. av. J.-C. découvertes au quartier des Bas-Banquets à Cavaillon (Vaucluse)

En 2005, la découverte fortuite d’une sépulture, au quartier des Bas-Banquets à Cavaillon (Vaucluse), suivie d’une fouille de sauvetage, a révélé une petite portion d’une nécropole antique. Les conditions d’urgence de cette intervention ont permis, sinon l’observation attentive du contexte archéologique, du moins la préservation du mobilier et une première réflexion sur les rites funéraires qu’il suggère.In 2005, the fortuitous discovery of a grave, in the district of the Bas-Banquets at Cavaillon (Vaucluse), subjected to a salvage excavation, revealed a small portion of an antique necropolis. The urgent conditions of this intervention allowed, if not a careful observation of the archaeological context, at least the safeguarding of the artefacts and a preliminary reflection on the funeral rites

Valréas – Clos Saint-Vincent, chemin des Estimeurs sud

Identifiant de l'opération archéologique : 8305 Date de l'opération : 2007 (SD) Inventeur(s) : De Michéle Patrick (COL) ; Deverly Daphné (AUT) ; Doray Isabelle (COL) C’est un projet de lotissement qui est à l’origine de la découverte d’une série de tombes sur la commune de Valréas. Une opération d’urgence s’est déroulée du 7 au 9 février 2007. L’intervention s’inscrit dans un environnement archéologique assez sensible. En effet, la proximité immédiate d’une chapelle bénédictine, aujourd’hui ..

Valréas – Clos Saint-Vincent, chemin des Estimeurs sud

Identifiant de l'opération archéologique : 8305 Date de l'opération : 2007 (SD) Inventeur(s) : De Michéle Patrick (COL) ; Deverly Daphné (AUT) ; Doray Isabelle (COL) C’est un projet de lotissement qui est à l’origine de la découverte d’une série de tombes sur la commune de Valréas. Une opération d’urgence s’est déroulée du 7 au 9 février 2007. L’intervention s’inscrit dans un environnement archéologique assez sensible. En effet, la proximité immédiate d’une chapelle bénédictine, aujourd’hui ..

Reprise d’études à l’université : quels publics, quelles finalités ?

Le groupe de travail sur l’enseignement supérieur (GTES) est un réseau d’échanges et de production sur les parcours de formation et d’insertion des étudiant·e·s de l’enseignement supérieur. Il réunit des chargé·e·s d’études du Céreq, des chercheur·e·s et enseignant·e·s chercheur·e·s, des représentant·e·s de l’Observatoire national de la vie étudiante (OVE), des observatoires universitaires et régionaux, des membres de services du MESRI (DGESIP et SIES), de l’agence ERASMUS + France et de l’Institut national de la jeunesse et de l’éducation populaire (INJEP). Les dernières journées ont eu lieu à Marseille les 6 et 7 juin 2019. Quatre projets d’ouvrages y ont été présentés dont celui-ci qui porte sur les reprises d’études à l’université. Qui sont ces publics de plus en plus nombreux ? Comment les repérer ? Quelles sont leurs motivations ? Quelle place prend la reprise d’études dans leurs trajectoires personnelle et professionnelle ? S’inscrit-elle comme une deuxième chance, en continuité d’un parcours antérieur ? Est-elle toujours formalisée par un dispositif de formation professionnelle continue ? Autant d’interrogations que les différentes contributions (construites à partir de sources et de méthodes d’analyses différentes) se proposent d’explorer en dressant un portrait de cette catégorie d’étudiants dont l’hétérogénéité des situations et des profils n’est plus à démontrer

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe

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

Portrait en clair-obscur de la Vaison tardive : l'état du forum dans l'Antiquité tardive

International audienc

La domus suburbaine de « La Brunette » à Orange

The dwelling is settled next to the town, in the amphitheatre district. It was built at the beginning of the first century A.D., and was sumptuously fitted out again at the end of the second century. The identification of some outbuildings remains unprecise for buildings of agricultural, industrial or craft use, but also for the dwelling the reception hall of which is overproportioned.The dwelling is settled next to the town, in the amphitheatre district. It was built at the beginning of the first century A.D., and was sumptuously fitted out again at the end of the second century. The identification of some outbuildings remains unprecise for buildings of agricultural, industrial or craft use, but also for the dwelling the reception hall of which is overproportioned.Mignon Jean-Marc, Doray Isabelle, Faure Vincent, Bouet Alain. La domus suburbaine de « La Brunette » à Orange. In: Revue archéologique de Narbonnaise, tome 30, 1997. pp. 173-202