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See detailUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E. et al

in American Journal of Human Genetics (2019)

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared ... [more ▼]

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology. [less ▲]

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See detailMutations in RHOT1 disrupt ER-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease.
Grossmann, Dajana UL; Berenguer, Clara UL; Bellet, Marie Estelle et al

in Antioxidants & redox signaling (2019)

OBJECTIVE: The outer mitochondrial membrane protein Miro1 is a crucial player in mitochondrial dynamics and calcium homeostasis. Recent evidence indicated that Miro1 mediates calcium-induced mitochondrial ... [more ▼]

OBJECTIVE: The outer mitochondrial membrane protein Miro1 is a crucial player in mitochondrial dynamics and calcium homeostasis. Recent evidence indicated that Miro1 mediates calcium-induced mitochondrial shape transition (MiST), which is a prerequisite for the initiation of mitophagy. Moreover, altered Miro1 protein levels have emerged as a shared feature of monogenic and sporadic Parkinson's disease (PD), but, so far, no disease-associated variants in RHOT1 have been identified. RESULTS: Here, for the first time, we describe heterozygous RHOT1 mutations in two PD patients (het c.815G>A; het c.1348C>T) and identified mitochondrial phenotypes with reduced mitochondrial mass in patient-derived cellular models. Both mutations lead to decreased ER-mitochondrial contact sites and calcium dyshomeostasis. As a consequence, energy metabolism was impaired, which in turn lead to increased mitophagy. CONCLUSION: In summary, our data support the role of Miro1 in maintaining calcium homeostasis and mitochondrial quality control in PD. [less ▲]

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See detailWind music and scholarship. IGEB and WASBE
Sagrillo, Damien UL

Scientific Conference (2019, July 13)

Detailed reference viewed: 33 (4 UL)
See detailLe millefeuille temporel des archives du Web
Schafer, Valerie UL

Presentation (2019, July 11)

À partir d’exemples choisis au sein des archives du Web et des réseaux socio-numériques, cette intervention se propose de montrer les différentes strates temporelles à l’œuvre au sein de ce patrimoine dit ... [more ▼]

À partir d’exemples choisis au sein des archives du Web et des réseaux socio-numériques, cette intervention se propose de montrer les différentes strates temporelles à l’œuvre au sein de ce patrimoine dit « nativement numérique », et ce de la sélection et collecte à l’analyse, en passant par l’accès via les interfaces et les médiations qu’elles introduisent, l’enrichissement via des métadonnées ou l’intégration d’outils de fouille. [less ▲]

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See detailDeep dive into Interledger: Understanding the Ripple ecosystem - Part 2
Trestioreanu, Lucian Andrei UL; Cassagnes, Cyril UL; State, Radu UL

Learning material (2019)

The goal of Interledger is to create an international friction-less payments routing system. The Interledger protocol is literally a protocol for inter-ledger payments. To achieve this goal, several ... [more ▼]

The goal of Interledger is to create an international friction-less payments routing system. The Interledger protocol is literally a protocol for inter-ledger payments. To achieve this goal, several aspects of the technology require a deeper analysis. For this reason, we created our own test-bed on our premises. By doing so, we notice that some aspects are well documented but we found that others might need more attention and clarification. Despite a large community effort, the task to keep information on a fast evolving software ecosystem is tedious and not always the priority for such a project. Therefore, the purpose of the following document is to consolidate all the relevant information to create a test-bed for the Interledger protocol between Ripple and Ethereum. [less ▲]

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See detailThe dual volume of quasi-Fuchsian manifolds and the Weil-Petersson distance
Mazzoli, Filippo UL

E-print/Working paper (2019)

Making use of the dual Bonahon-Schläfli formula, we prove that the dual volume of the convex core of a quasi-Fuchsian manifold M is bounded by an explicit constant, depending only on the topology of M ... [more ▼]

Making use of the dual Bonahon-Schläfli formula, we prove that the dual volume of the convex core of a quasi-Fuchsian manifold M is bounded by an explicit constant, depending only on the topology of M, times the Weil-Petersson distance between the hyperbolic structures on the upper and lower boundary components of the convex core of M. [less ▲]

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See detailFacial perception and implicit prejudice: An eye-tracking study
Stogianni, Maria UL; Murdock, Elke UL

Poster (2019, July 09)

Racial bias can affect the way of processing visual stimuli that are targets of prejudice. Different levels of prejudice and the type of prejudice (implicit vs. explicit) were related to automatic and ... [more ▼]

Racial bias can affect the way of processing visual stimuli that are targets of prejudice. Different levels of prejudice and the type of prejudice (implicit vs. explicit) were related to automatic and controlled processes of visual exploration (Hansen Rakhshan, Ho, & Pannasch, 2015). The proposed study aims to extend these findings by including pictures of individuals that belong to different racial and ethnic groups (White, Asian, Black, Latino) and vary in prototypical characteristics. Images of the Chicago Face Database will be presented in an online study. Eye movements will be recorded during the presentation of visual stimuli. We will examine differences in exploratory looking behavior among natives in a western European country and individuals with migratory background. [less ▲]

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See detailWhy we do not care for statelessness as we care for asylum?
Sommarribas, Adolfo UL

Presentation (2019, July 07)

This presentation address the issue why statelessness is so marginalised in the migration discourse in the European Union even though is a growing phenomenon.

Detailed reference viewed: 35 (1 UL)
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See detailNation et migrations au Luxembourg
Scuto, Denis UL

Article for general public (2019)

This article focusses on the making of the nation and migrations in Luxembourg in 19th and 20th century, in a double perspective: Luxembourg nation as a product of transregional and transnational spaces ... [more ▼]

This article focusses on the making of the nation and migrations in Luxembourg in 19th and 20th century, in a double perspective: Luxembourg nation as a product of transregional and transnational spaces of migration and nation as the lens of observation of these migrations. [less ▲]

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See detailNamenskunde – Gender(re)konstruktionen in Autobiographien von Transpersonen
Artuso, Sandy Kathy UL

Scientific Conference (2019, July 05)

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See detailMaking Retail Banks Resolvable
Asimakopoulos, Ioannis UL

Presentation (2019, July 05)

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See detailInnovation et coopération dans les réseaux de données (années 1970-1990)
Schafer, Valerie UL

Presentation (2019, July 04)

A travers un parcours historique au coeur de 20 ans d'innovation dans les réseaux de données, depuis le développement d'Arpanet jusqu'à l'échec de l'OSI, en passant par Internet, XNS, Transpac ou encore ... [more ▼]

A travers un parcours historique au coeur de 20 ans d'innovation dans les réseaux de données, depuis le développement d'Arpanet jusqu'à l'échec de l'OSI, en passant par Internet, XNS, Transpac ou encore EIN, il s'agira d'interroger la place de la coopération technique mais aussi organisationnelle au sein des réseaux de données. Trop ou pas assez de coopération tue-t-il l'innovation? [less ▲]

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See detailInsights into protein structural, physicochemical, and functional consequences of missense variants in 1,330 disease-associated human genes 693259
Iqbal, Sumaiya; Jespersen, Jakob B.; Perez-Palma, Eduardo et al

E-print/Working paper (2019)

Inference of the structural and functional consequences of amino acid-altering missense variants is challenging and not yet scalable. Clinical and research applications of the colossal number of ... [more ▼]

Inference of the structural and functional consequences of amino acid-altering missense variants is challenging and not yet scalable. Clinical and research applications of the colossal number of identified missense variants is thus limited. Here we describe the aggregation and analysis of large-scale genomic variation and structural biology data for 1,330 disease-associated genes. Comparing the burden of 40 structural, physicochemical, and functional protein features of altered amino acids with 3-dimensional coordinates, we found 18 and 14 features that are associated with pathogenic and population missense variants, respectively. Separate analyses of variants from 24 protein functional classes revealed novel function-dependent vulnerable features. We then devised a quantitative spectrum, identifying variants with higher pathogenic variant-associated features. Finally, we developed a web resource (MISCAST; http://miscast.broadinstitute.org/) for interactive analysis of variants on linear and tertiary protein structures. The biological impact of missense variants available through the webtool will assist researchers in hypothesizing variant pathogenicity and disease trajectories. [less ▲]

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See detailRobotic Trajectory Tracking: Position- and Force-Control
Klecker, Sophie UL

Doctoral thesis (2019)

This thesis employs a bottom-up approach to develop robust and adaptive learning algorithms for trajectory tracking: position and torque control. In a first phase, the focus is put on the following of a ... [more ▼]

This thesis employs a bottom-up approach to develop robust and adaptive learning algorithms for trajectory tracking: position and torque control. In a first phase, the focus is put on the following of a freeform surface in a discontinuous manner. Next to resulting switching constraints, disturbances and uncertainties, the case of unknown robot models is addressed. In a second phase, once contact has been established between surface and end effector and the freeform path is followed, a desired force is applied. In order to react to changing circumstances, the manipulator needs to show the features of an intelligent agent, i.e. it needs to learn and adapt its behaviour based on a combination of a constant interaction with its environment and preprogramed goals or preferences. The robotic manipulator mimics the human behaviour based on bio-inspired algorithms. In this way it is taken advantage of the know-how and experience of human operators as their knowledge is translated in robot skills. A selection of promising concepts is explored, developed and combined to extend the application areas of robotic manipulators from monotonous, basic tasks in stiff environments to complex constrained processes. Conventional concepts (Sliding Mode Control, PID) are combined with bio-inspired learning (BELBIC, reinforcement based learning) for robust and adaptive control. Independence of robot parameters is guaranteed through approximated robot functions using a Neural Network with online update laws and model-free algorithms. The performance of the concepts is evaluated through simulations and experiments. In complex freeform trajectory tracking applications, excellent absolute mean position errors (<0.3 rad) are achieved. Position and torque control are combined in a parallel concept with minimized absolute mean torque errors (<0.1 Nm). [less ▲]

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See detailMapping Digital Urban History - Use Case Luxembourg
Kass, Steve UL; Pauli, Sebastian; Uhrmacher, Martin UL

Presentation (2019, July 04)

Since 2016, a research project of the University of Luxembourg (IHIST: Institute for History) in close collaboration with the city of Luxemburg is investigating research in the development of an ... [more ▼]

Since 2016, a research project of the University of Luxembourg (IHIST: Institute for History) in close collaboration with the city of Luxemburg is investigating research in the development of an interactive, dynamic web site, providing insights in the urban development since the beginning of the 19th century at single building level scale. The elaborated historic town Atlas represents a collection of maps and structures (e.g. building, fortress, streets) combined with explanatory texts, chronological tables and images, which all trace the history of the city and illustrate its stages of development. It represents a tool for additional new knowledge with which the historical process of change will be documented diachronically. The target groups are international urban history research and general public. [less ▲]

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See detailConsolidated democracy advantage: political instability and sovereign spreads in the EU
Glaurdic, Josip UL; Lesschaeve, Christophe UL; Vizek, Maruška

in Comparative European Politics (2019), Online first

We expose the way the market evaluates internal political risk and instability in democratic polities by analysing the determinants of sovereign spreads of EU member states over the course of the past two ... [more ▼]

We expose the way the market evaluates internal political risk and instability in democratic polities by analysing the determinants of sovereign spreads of EU member states over the course of the past two decades. Our analysis builds on the “democratic advantage” argument which suggests democracies enjoy preferential treatment on the international market of sovereign debt because of their better ability to make credible commitments. We suggest that, when it comes to the market’s evaluation of internal political instability and risk in democratic polities, there actually exists a “consolidated democracy advantage”. In times of political instability, older and more consolidated democracies pay less of a premium on their debt than their younger and less consolidated counterparts. In other words, the market indeed views the commitment of consolidated democracies with long track records of democratic competition and survival as something qualitatively diferent than the commitment of new democracies with short track records. [less ▲]

See detailLes fonctions des parlements en démocratie aujourd’hui : quid de la représentation des minorités ?
Poirier, Philippe UL

Presentation (2019, July 02)

Les mécanismes des représentations parlementaires des minorités prévus dans les Etats membres de l’UE garantissent-ils les droits des citoyens qui les constituent et préservent-ils leurs chances d’exercer ... [more ▼]

Les mécanismes des représentations parlementaires des minorités prévus dans les Etats membres de l’UE garantissent-ils les droits des citoyens qui les constituent et préservent-ils leurs chances d’exercer les fonctions politiques primordiales ? [less ▲]

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See detailDeep dive into Interledger: Understanding the Ripple ecosystem - Part 1
Trestioreanu, Lucian Andrei UL; Cassagnes, Cyril UL; State, Radu UL

Learning material (2019)

The goal of Interledger is to create an international friction-less payments routing system. The Interledger protocol is literally a protocol for inter-ledger payments. To achieve this goal, several ... [more ▼]

The goal of Interledger is to create an international friction-less payments routing system. The Interledger protocol is literally a protocol for inter-ledger payments. To achieve this goal, several aspects of the technology require a deeper analysis. For this reason, we created our own test-bed on our premises. By doing so, we notice that some aspects are well documented but we found that others might need more attention and clarification. Despite a large community effort, the task to keep information on a fast evolving software ecosystem is tedious and not always the priority for such a project. Therefore, the purpose of the following document is to consolidate all the relevant information to create a test-bed for the Interledger protocol between Ripple and Ethereum. [less ▲]

Detailed reference viewed: 30 (0 UL)
See detailTalent mangement flexibility in a cyclical industry
Usanova, Ksenia; Geraudel, Mickaël UL; D'Armagnac, Sophie et al

Presentation (2019, July 02)

Detailed reference viewed: 54 (0 UL)
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See detailMigratory pathways for start-ups and innovative entrepreneurs in the EU and Norway (Country report Luxembourg)
Sommarribas, Adolfo UL; Petry, Ralph UL; Coda, Nicolas UL et al

Report (2019)

The main objective of this study of the European Migration Network is to provide objective and reliable information about migratory pathways for start-ups and innovative entrepreneurs to Luxembourg ... [more ▼]

The main objective of this study of the European Migration Network is to provide objective and reliable information about migratory pathways for start-ups and innovative entrepreneurs to Luxembourg. Fostering start-ups and innovative enterprises is a national policy priority for Luxembourg as providing support to entrepreneurship and start-ups has been on the Luxembourgish governments’ agenda since 2013. It has been a part of a more general diversification policy of existing economic structures in order to increase economic growth of the country and reduce dependence on the financial sector, which remains the dominant economic pillar. The current Governmental programme 2018–2023 encourages support to start-ups, the acceleration of the development of the start-up ecosystem in Luxembourg as well as the promotion of Luxembourg as a ‘start-up nation’ both at national and international level. What should be pointed out is that this policy is not specifically targeted at third-country start-ups and innovative entrepreneurs, but aims to attract international investment, (innovative) enterprises and researchers in general. Thus, the mainstream immigration policy established by the amended Law of 29 August 2008 on free movement of persons (hereafter referred to as ‘Immigration Law’) for ‘self-employed worker’ or ‘investor’ residence permits is applied. The conditions that need to be fulfilled in order to be issued either a ‘self-employed worker’ or ‘investor’ residence permit as well as the conditions for the renewal of the residence permits are explained in detail in Section 3.3 and in Section 5, respectively. Several of the stakeholders involved in the context of this study reported that the existing regulations are sufficient and there is no need to introduce new ones or ones that would specifically target third-country nationals. Several initiatives have implemented in order to support the development of innovation in Luxembourg. Luxinnovation, the National Agency for the promotion of Research, Development and Innovation, was established already in 1985 and currently is reinforcing Government’s economic development objectives by providing support to companies and researchers in order to foster innovation. One of these initiatives, launched by the Ministry of the Economy in 2015 and implemented by Luxinnovation, is the Fit4Start acceleration programme which is particularly aimed at innovative ICT start-ups and recently also at start-ups from the health technologies. This programme provides coaching, business development support and funding to innovative projects or young innovative start-ups from around the world. Another important policy in the context of this study is the amended Law of 17 May 2017 on the Promotion of Research, Development and Innovation which provides a national funding scheme for Young Innovative Enterprises. Under this scheme, unlisted small enterprises that are registered for a maximum of five years can apply for State aid at the Ministry of the Economy’s Research and Innovation Directorate. Furthermore, Luxinnovation also animates the Luxembourg Cluster Initiative established by the Government in 2002. The objective of this initiative is to encourage communication and exchange of knowledge between cluster members (involving both the public and private sector) as well as to encourage use of new technologies and identification of possible business opportunities. This study further presents a table of rights and incentive measures in place to attract start-up founders and particularly highlights the access to special funding and investments, the co-working spaces as well as the access to incubation/accelerator support programmes, among others. In addition to the elements presented above, this study also elaborates on the following questions: What is the process and what are the requirements for starting up a business in Luxembourg? What are the main sectors and industries in which Luxembourg aims to attract start-ups? What is the role of local and regional authorities in creating and supporting entrepreneurial ecosystems? What role can actors such as local authorities, the private sector or higher education institutions play in attracting start-ups? Are there factors/conditions in place that incentivise start-ups and innovative entrepreneurs to use specific immigration routes? Lastly, with the use of fictional scenarios, four case studies aim to provide an understanding of the possible admission options of different types of start-ups and innovative entrepreneurs. [less ▲]

Detailed reference viewed: 50 (13 UL)