Search

Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

International audience; One of challenges of the French dairy goat sector is to develop, promote and support the development of sustainable farming systems. French dairy goat farms are strong users of grass, used mainly in hay, but the feeding selfsufficiency of these farms remains relatively low (on average 61%). To keep a goat milk sector linked to consumers' expectations and requirements, it is imperative that the feeding practices of dairy goat farms linked to the good image of their products. Our study has shown the interest of grassland systems and different methods of using grass to reduce feeding costs, as well as the environmental footprint for pasture or pastoralism systems. However, in the West of France, main area of collected milk, only 5% of dairy goats graze. We have reported differing perceptions regarding the place of herb on farms. To support this transition and improve competitiveness, new references have been obtained over the past 5 years, in particular on the estimation methods of the grazing intake of dairy goats or on the intake levels of ventilated hay. Trials in farms improved knowledge on the use practices of multi-species grasslands by dairy goats, and confirmed the benefits of grazing or hay to improve the nutritional qualities of milks and goat cheeses. A better use of herb is a potential to develop more sustainable dairy goat systems in France and to perpetuate the dairy goats breeding and the cheese production. To meet this challenge, stakeholders of the goat sector have developed new tools to support farmers and technicians, and have structured themselves within a new organization (UMT SC3D) to design sustainable farming systems, more resilient to hazards, especially in the context of climate change.; Un des enjeux de la filière caprine française est de mettre au point, promouvoir et accompagner le développement de systèmes de production durables. Les exploitations caprines françaises sont de fortes utilisatrices d’herbe, valorisée principalement sous forme de foin mais l’autonomie alimentaire de ces exploitations reste relativement faible (61 % en moyenne). Pour maintenir une filière de production de lait de chèvre en phase avec les attentes des consommateurs, les pratiques d’élevages caprins doivent rester en adéquation avec la bonne image de leurs produits. Nos travaux ont montré l'intérêt des systèmes herbagers et des différents modes de valorisation de l’herbe pour réduire le coût alimentaire, ainsi que l’empreinte environnementale pour des conduites basées sur le pâturage et le pastoralisme. Cependant, dans le Grand Ouest, principal bassin de production de lait livré, nous avons pu constater des perceptions divergentes concernant la place de l’herbe dans leur alimentation. Pour accompagner cette transition et améliorer la compétitivité, de nouvelles connaissances ont été acquises au cours de ces 5 dernières années, en particulier sur l’ingestion de la chèvre au pâturage ou l’ingestion de foin séché en grange. Des suivis réalisés en fermes ont permis d’améliorer les connaissances sur l’utilisation et la valorisation des prairies multiespèces par les chèvres, et ont confirmé l’intérêt des régimes à base d’herbe pâturée ou de foin pour améliorer les qualités nutritionnelles des laits et des fromages de chèvre. L’utilisation et la valorisation des prairies constituent un potentiel de développement durable des systèmes laitiers caprins en France pour pérenniser l’élevage de chèvres et la production de leurs fromages. Pour relever ce défi, les acteurs de la filière caprine ont développé de nouveaux outils pour accompagner les éleveurs et les techniciens et se sont structurés au sein d’une nouvelle unité mixte technologique (Systèmes Caprins Durables De Demain - SC3D), labélisée en 2019 pour 5 ans, pour aller vers des conduites et des systèmes durables, plus résilients aux aléas, tout particulièrement dans un contexte de changement climatique.

International audience; Whether preclinical studies either involve a cell or animalmodel, the distribution of light plays a determinant role in the reproducibility of results of photodynamic therapy (PDT) studies. Unfortunately, only few illumination devices dedicated to preclinical studies are available and are for the most, very expensive. Mostresearch teams use home-made solutions that may not always be reproducible because of undefined light distribution, additive thermal emission, or unsuitable for shapes and volumes to illuminate. To address these issues, we developed illumination devices dedicated to our preclinical studies, which embed knitted light emitting fabrics (LEF) technology. LEF technology offers a homogeneous light distribution, without thermal emission and can be coupled with various light sources allowinginvestigation of several PDT modalities (irradiance, wavelength, illumination duration/mode). For in-vitro studies, we designed light plates,each allowing illumination of up to four 96-cells plates. For in-vivo studies, we designed mice boxes allowing three animals placement in prone position, equally surrounded by LEF and ensuring homogeneous extracorporeal illumination. Optical validation was performed and reproducibility of both preclinical systems were assessed. Both systems can deliver homogeneous light with an irradiance that can reachseveral mW/cm 2 , with varying durations and wavelengths. First results of preclinical studies demonstrate a high reproducibility, with an easy setup, and a great adaptability of illumination modalities with these devices based on light emitting fabrics.

International audience; Glioblastoma Multiform (GBM) is a high-grade brain tumour with local recurrence and poor outcome. Photodynamic therapy to treat glioblastoma has been recently reported to improve overall survival. However, controlled study to evidence treatment efficacy is still expected and treatment delivery has to be optimized. Several parameters might be optimized such as fluence rate, dose escalation or fractionation of light delivery. Specially, fractionation of light delivery is expected to enhance treatment efficiency by restoring tissue oxygenation. Thus, we have evaluated light fractionation on a preclinical rodent model harbouring grafted GBM. Thirty-nine " Nude " rats were grafted with human U87 cells. Cells were stereotactically grafted in rat brain. After the presence and the size of the tumour were assessed by microMRI, PDT was delivered interstitially. Light was delivered through an optical fibre introduced into the tumour after PS precursor intake (5-ALA). The rats were randomized in three groups: (1) without illumination, (2) with 2-steps light fractionation and (3) with 5-steps light fraction-ation. Brain immunohistology and microMRI images were achieved to evaluate the treatment effects. On diffusion MRI, elevated diffusion values in tumour centre among treated animals were observed, especially for the 5-steps fractionation group. Perfusion decreased around the treatment site, especially in the 5-steps fractionation group. Histology confirmed our MRI findings, with a more extensive necrosis and apopto-sis associated with a rarefiedangiogenic network in the treatment area, after 5-steps fractionation PDT. However, more surrounding oedema and neovascularization in the peripheral ring after 5-steps fractionation PDT were also noticed. Finally we observed that interstitial PDT induced more tumour necrosis and apoptosis when applying 5-steps fractionation. However , this scheme also led to significant peripheral oedema and neovascularization. Diffusion and perfusion were able to predict the histological lesions. Nevertheless, apoptosis cells death remains the preferred effect in order to decrease potential side effects. We hypothesize a lower fluence rate with the same light fractionation scheme might increase apoptosis while decreasing necrosis and oedema. Preclinical study is still on going to verify this hypothesis. http://dx.

International audience

Colloque Dinabio mai 2008 à Montpellier. 3. Dynamiques de développement de l'AB; National audience; How can we approach strategies and innovations specific to organic farmers? Is the appearance of new practices evidence of a modification of the structure of professional organic farming? On the basis of a field study carried out in the Midi-Pyrénées region in France, sociological analysis casts light on several examples of strategies and innovations specific to the world of organic farming and from which they arise. The strategic courses of action taken by organic farmers are therefore analysed in relation to organic farming characteristics, defined as the set of issues, interests, representations and other specific characteristics that structure this socio-professional field. Organic farming innovations are the result of interactions between the socio-technical framework, the result of how this field is structured, and the practices of organic farmers (having, to some extent, incorporated these same properties). The emergence of innovative practices as a result of new inputs (converted or used for the first time) is proof of the structural modifications taking place within the area of professional organic farming. Although they may appear to “enrich” organic farming diversity, these new practices are partially derived from traditional farming practices not used in organic farming. They raise the question of the use and the transformation of certain properties that characterise professional organic farming.; Comment appréhender les stratégies et les innovations propres aux agriculteurs biologiques ? L’apparition de nouvelles pratiques témoigne-t-elle d’une modification de la structure du champ professionnel agrobiologique ? À partir d’une étude de terrain menée dans la Région Midi-Pyrénées, l’analyse sociologique met en perspective des exemples de stratégies et d’innovations en fonction de l’univers particulier de l’agriculture biologique d’où elles émergent. Les modes d’action stratégiques des agriculteurs biologiques sont ainsi analysées en relation avec les propriétés agrobiologiques : ensemble composé d’enjeux, d’intérêts, de représentations et autres caractéristiques spécifiques qui structurent ce milieu socioprofessionnel. Les innovations agrobiologiques sont le résultat d’interrelations entre le cadre sociotechnique, produit de la structure de ce milieu et les habitus des agriculteurs (ayant en partie incorporé ces mêmes propriétés). L’émergence de pratiques innovantes du fait de nouveaux entrants (convertis ou nouveaux installés) témoigne de la reconfiguration structurelle qui se réalise au sein du champ professionnel agrobiologique. Bien qu’apparaissant « enrichir » la diversité agrobiologique, ces nouvelles pratiques relèvent pour partie de propriétés du milieu conventionnel, extérieures à la Bio ; elles posent la question de la remise en cause ou de la transformation de certaines propriétés qui caractérisent le milieu professionnel de l’agriculture biologique.

Colloque Dinabio mai 2008 à Montpellier. 3. Dynamiques de développement de l'AB; National audience; How can we approach strategies and innovations specific to organic farmers? Is the appearance of new practices evidence of a modification of the structure of professional organic farming? On the basis of a field study carried out in the Midi-Pyrénées region in France, sociological analysis casts light on several examples of strategies and innovations specific to the world of organic farming and from which they arise. The strategic courses of action taken by organic farmers are therefore analysed in relation to organic farming characteristics, defined as the set of issues, interests, representations and other specific characteristics that structure this socio-professional field. Organic farming innovations are the result of interactions between the socio-technical framework, the result of how this field is structured, and the practices of organic farmers (having, to some extent, incorporated these same properties). The emergence of innovative practices as a result of new inputs (converted or used for the first time) is proof of the structural modifications taking place within the area of professional organic farming. Although they may appear to “enrich” organic farming diversity, these new practices are partially derived from traditional farming practices not used in organic farming. They raise the question of the use and the transformation of certain properties that characterise professional organic farming.; Comment appréhender les stratégies et les innovations propres aux agriculteurs biologiques ? L’apparition de nouvelles pratiques témoigne-t-elle d’une modification de la structure du champ professionnel agrobiologique ? À partir d’une étude de terrain menée dans la Région Midi-Pyrénées, l’analyse sociologique met en perspective des exemples de stratégies et d’innovations en fonction de l’univers particulier de l’agriculture biologique d’où elles émergent. Les modes d’action stratégiques des agriculteurs biologiques sont ainsi analysées en relation avec les propriétés agrobiologiques : ensemble composé d’enjeux, d’intérêts, de représentations et autres caractéristiques spécifiques qui structurent ce milieu socioprofessionnel. Les innovations agrobiologiques sont le résultat d’interrelations entre le cadre sociotechnique, produit de la structure de ce milieu et les habitus des agriculteurs (ayant en partie incorporé ces mêmes propriétés). L’émergence de pratiques innovantes du fait de nouveaux entrants (convertis ou nouveaux installés) témoigne de la reconfiguration structurelle qui se réalise au sein du champ professionnel agrobiologique. Bien qu’apparaissant « enrichir » la diversité agrobiologique, ces nouvelles pratiques relèvent pour partie de propriétés du milieu conventionnel, extérieures à la Bio ; elles posent la question de la remise en cause ou de la transformation de certaines propriétés qui caractérisent le milieu professionnel de l’agriculture biologique.