Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, with more than 25,000 patients in Europe. It is due to mutations in the DMD gene that preclude the production of the protein dystrophin. In addition to the progressive muscle weakness, 50% of affected individuals have debilitating central nervous system (CNS) co-morbidities, including intellectual disability, neurodevelopmental problems encompassing autism, Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder. These co-morbidities are due to the deficiency of multiple dystrophin isoforms in brain whose expression is differentially affected by the site of the DMD mutation. They represent a major obstacle for patients to live a fully independent life. Current therapies do not address these co-morbidities. The postnatal restoration of one dystrophin isoform using genetic therapies in the DMD mouse model improves the neurobehavioral phenotype. This raises the exciting possibility that some of the CNS co-morbidities could improve with genetic therapies in patients. We need to address several knowledge gaps before considering clinical applications of these therapies: i. dystrophin isoforms localisation in the CNS; ii. which of the neurobehavioural features of the dystrophic mice improve after dystrophin restoration, and circuitries involved; iii. deep phenotype patients to define robust outcome measures. This project developed in partnership with advocacy groups, meets gender criteria and offers for the first time insight into how dystrophins’ affect CNS function, and on the reversibility of the DMD CNS co-morbidities, providing essential information to the field of neurodevelopmental disorders, and for other syndromes arising from dystrophin associated proteins. Our efforts to develop novel therapies that can cross the blood brain barrier could be transformative for the field of neurodegeneration and neurodevelopmental disorders.

In the EU alone, according to the Orphanet DB (https://pubmed.ncbi.nlm.nih.gov/31527858/), 30 million persons, 3,5-6% of the general population, are affected by one of the 6,172 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. Lack of timely diagnosis affects disease management, family planning, identification of potential beneficial treatments and / or clinical trials. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals. The genetic NBS will interrogate 1) currently treatable RDs (TREAT-map gene panel), 2) actionable RDs (ACT-map gene panel) in 18.000 new-borns in 3 EU countries (D, It, and Cz). Further, S4C will offer whole genome sequencing (WGS) to early symptomatic babies, tested negatively during panel-based NBS to identify known NBS-escaped RDs and novel genes/phenotypes. S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes: 1) federated ML- and literature-evidence-based algorithm for continuous and automated screening of EHR and 2) meta symptom checker with virtual clinics for patients and HCP offering the possibility of increased accuracy of diagnosis and ongoing supports. Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affect by RDs, improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens.

This document describes the research to be undertaken by the project OptiFrame – “An Optimization Framework for Trajectory Based Operations” - funded by the EU call “SESAR 2020 Exploratory Research: First Call for Research Project”, research topic “Trajectory Based Operations (TBO)” (ER-09-2015), within the area “ATM Applications-Oriented Research”. The project consortium comprises University of Lancaster (Project Coordinator), the Consorzio Futuro in Ricerca, Eurocontrol and the Stichting Nationaal Lucht- en Ruimtevaartlaboratorium (NLR). OptiFrame is motivated by the need of studying a number of fundamental questions related to TBO, a key element of future ATM operating concepts. The main objective of this research proposal is the application of principles of mathematical modelling and optimization to optimally configure and assess the performance of the TBO concept. This will allow to verify the viability of the TBO concept, to identify the major issues that need to be addressed, and determine whether, under which conditions, and to what extent, the objectives of flexibility of airspace users and predictability of the ATM system, can be achieved. The core activity and focus of this proposal is the development of a framework, which consists of mathematical models and optimization algorithms, “to support the ATFCM decision making process” by suggesting optimal TBO solutions. The framework will be applied in real world instances, and it will be used to perform a wide array of analyses. We will use OptiFrame as a tool to: i) investigate several of the issues and questions arising for the exploitation and deployment of the TBO concept, ii) fully understand the benefits and limitations of the TBO approach, and iii) study the trade-off between different contrasting KPIs relevant for the TBO concept.

The ultimate purpose of ANYWHERE is to empower exposed responder institutions and citizens to enhance their anticipation and pro-active capacity of response to face extreme and high-impact weather and climate events. This will be achieved through the operational implementation of cutting-edge innovative technology as the best way to enhance citizen's protection and saving lives. ANYWHERE proposes to implement a Pan-European multi-hazard platform providing a better identification of the expected weather-induced impacts and their location in time and space before they occur. This platform will support a faster analysis and anticipation of risks prior the event occurrence, an improved coordination of emergency reactions in the field and help to raise the self-preparedness of the population at risk. This significant step-ahead in the improvement of the pro-active capacity to provide adequate emergency responses is achievable capitalizing on the advanced forecasting methodologies and impact models made available by previous RTD projects, maximizing the uptake of their innovative potential not fully exploited up to now. The consortium is build upon a strong group of Coordinators of previous key EC projects in the related fields, together with 12 operational authorities and first responders institutions and 6 leading enterprises of the sector. The platform will be adapted to provide early warning products and locally customizable decision support services proactively targeted to the needs and requirements of the regional and local authorities, as well as public and private operators of critical infrastructures and networks. It will be implemented and demonstrated in 4 selected pilot sites to validate the prototype that will be transferred to the real operation. The market uptake will be ensured by the cooperation with a SME and Industry Collaborative Network, covering a wide range of sectors and stakeholders in Europe, and ultimately worldwide.

INCEPTION realises innovation in 3D modelling of cultural heritage through an inclusive approach for time-dynamic 3D reconstruction of artefacts, built and social environments. It enriches the European identity through understanding of how European cultural heritage continuously evolves over long periods of time. INCEPTION’s Inclusive approach comprises: time dynamics of 3D reconstruction (‘forever’); addresses scientists, engineers, authorities and citizens (‘for everybody’); and provides methods and tools applicable across Europe (‘from everywhere’). INCEPTION solves the shortcomings of state-of-the-art 3D reconstruction by significantly enhancing the functionalities, capabilities and cost-effectiveness of instruments and deployment procedures for 3D laser survey, data acquisition and processing. It solves the accuracy and efficiency of 3D capturing by integrating Geospatial Information, Global and Indoor Positioning Systems (GIS, GPS, IPS) both through hardware interfaces as well as software algorithms. INCEPTION methods and tools will result in 3D models that are easily accessible for all user groups and interoperable for use by different hardware and software. It develops an open-standard Semantic Web platform for Building Information Models for Cultural Heritage (HBIM) to be implemented in user-friendly Augmented Reality (VR and AR) operable on mobile devices. INCEPTION collaborative research and demonstration involves all disciplines (both social and technical sciences), technologies and sectors essential for creation and use of 3D models of cultural heritage. SMEs are the thrust of INCEPTION consortium that will bring the innovation into creative industries of design, manufacturing and ICT. The Consortium is fully supported by a Stakeholder Panel that represents an international organisation (UNESCO), European and national public institutions, and NGOs in all fields of cultural heritage.