Neurofibromatosis type 1 (NF1), NF2 and non-NF2 schwannomatosis (SWN) belong to the NF disease spectrum. Legius syndrome (LGSS) and Constitutional Mismatch Repair Deficiency (CMMRD) are both differential diagnoses of NF1. These five syndromes are rare, genetically and clinically distinct diseases with variable course, however the majority present with severe complications and tumor development. The life expectancy is mainly improved by early diagnosis and personalized medical care in a specialized reference center. A large percentage of these patients currently remain without a genetic diagnosis, although their clinical features strongly suggest the presence of a still unknown genetic cause. The main objective is to expand the availability and access of validated diagnostic and functional tools among the consortium members and other laboratories to maximize the genetic diagnostic yield for patients with NF-SWN and related disorders. Firstly, we will develop, validate and compare new DNA and RNA-based testing techniques to improve genetic diagnosis. Secondly, we want to test the pathogenic effect of variants of unknown significance on RNA level and by using functional assays and iPSCs. Thirdly, we will retest NF1-, LGSS-, NF2- and SWN-like patients with negative genetic diagnosis using newly developed RNA and DNA molecular techniques. Lastly, C4CMMRD consensus criteria will be evaluated. We expect to share new sensitive and specific diagnostic assays and bioinformatics tools that can be globally used to characterize molecularly patients with NF-SWN-LGSS and CMMRD and to identify new candidate genes. A worldwide accurate molecular diagnosis for patients with NF-SWN and related disorders will greatly impact the financial and clinical outcome as well as the therapeutic options, quality of life and societal burden.

Public procurement of innovative solutions (PPI) shortens the route to market, sets free the potential of early adopters to implement an innovation and enables public procurers to efficiently answer market demands of innovative products. THALEA II is the first follow-up PPI in healthcare for Intensive Care Units (ICU). It will bring an innovative product to the European healthcare market aiming to mitigate negative impacts of one of the greatest European socio-economic challenges of the 21st century in healthcare: Ageing of society and workforce. This development challenges the healthcare sector, due to an imbalance between the increasing number of EU-citizens requiring care and the decreasing number of human resources on the caregiving side. Thus, there is an urgent need for innovative solutions disburdening healthcare professionals. There is evidence suggesting that telemedicine has the ability to mitigate these problematic pan-European challenges. The promising technology of THALEA II will be implemented helping to save more lives and as a result increasing patients’ quality of life. This project will create the potential to increase European competitiveness and exceed research and development in comparison to the US and demonstrate the effectiveness of this approach with respect to innovative management and procurement methods. THALEA PCP is currently creating an appropriate solution fulfilling all demands of a telemedical research framework with a special focus on interoperability and scalability. THALEA addresses the need for a marketable, advanced solution applicable on a broad basis, avoiding vendor lock-in. Using the PPI-funding instrument, procuring entities and ICU experts will be able to buy the advanced THALEA solution developed during PCP. Thereby, this promising technology will be spread all over Europe assisting caregivers in all sectors of care and consequently improving the quality of life and wellbeing of many EU citizens.

Despite receiving little attention, vestibular disorders result in loss of vestibular (inner ear) function and create costly health disparities. One-third of the population experiences some form of vestibular loss (VL) that presents with a mix of symptoms, from dizziness to brain fog, that reduces both quality of life and workforce capacity, and, for unknown reasons, is more prevalent and disabling in women. For most individuals with VL, the underlying etiology is unknown, and management is insufficient. Due to its prevalence, disability, and poor management, VL results in aggregated costs likely exceeding €6 billion per year in Europe. To combat the burden of VL and address the need for innovation along the entire chain, from basic knowledge to new treatments, we mobilize an international team of 13 academic and 9 non-academic partners who unite specialized scientific and clinical expertise, advances in computing, device engineering and remote management platforms, and clinical and patient networks. We synergize these resources to deliver state-of-the-art training necessary for 10 doctoral candidates (DCs) to innovate the new tools (knowledge, approaches, and devices) essential to understand the etiology of VL, capture and interpret (characterize) the relevant symptoms of VL, and expand treatments to restore vestibular function. With collaborative impact activities, we additionally train DCs to enable diverse end users to adopt, use, and further innovate these tools and stakeholders to better advocate for future innovation. By training new leading experts, we aim to advance patient-centered care of VL and, moreover, reduce healthcare costs and promote sustainable “green” healthcare systems while also enhancing workforce and innovation capacity for individuals with VL and in the emerging academic, clinical, and industrial sectors focused on the care of VL. PROVIDE will be a model for future networks tackling challenges in healthcare and striving for health equity.