Résultats de recherche

Plusieurs séances sont prévues : les 5, 12,19 et 26 novembre de 17h à 19h.  S'inscrire

Plusieurs séances sont prévues : les 5, 12,19 et 26 novembre de 17h à 19h.  S'inscrire

Plusieurs séances sont prévues : les 5, 12,19 et 26 novembre de 17h à 19h.  S'inscrire

Plusieurs séances sont prévues : les 5, 12,19 et 26 novembre de 17h à 19h.  S'inscrire

What? BENEVOL on Thursday and Friday, 21 and 22 November: the congress will bring together researchers working in software engineering, evolution, and maintenance. This year, we will have two keynotes: one by Prof. Andy Zaidman from TU Delft and one by Prof. Sonia Haiduc from Florida State University. IMPACT! day on November 20: as a PhD student and/or researcher, you can join us to learn to communicate what you bring to the table efficiently thanks to the tried and tested Value Proposition canvas and exchange with practitioners, who will expose the challenges they encounter daily. The IMPACT! day initiative is supported by the GRASCOMP doctoral school, and participants will receive a certificate. As a software development professional, you can join us on Wednesday afternoon, November 20, as a guest from the corporate world to share your current challenges and connect with researchers working to advance software development and maintenance practices (please do not hesitate to contact us at snail.info@unamur.be if you would like to participate in the introductory panel of guests from the professional world and/or at the World Café). When? Wednesday 20 (IMPACT Day!) Thursday 21 - Friday 22 November 2024 (BENEVOL Research Congress) Organizers Xavier Devroey, Gilles Perrouin, Benoît Vanderose, Anthony Cleve, Babette Di Guardia, Amélie Notaro, Sophie Panarotto, Alix Decrop, Tom Mens Where? TRAKK, Namur creative hub (Journée IMPACT!) S09, Faculty of Sciences, University of Namur, Belgium (BENEVOL Research Congress) More information

JuryDr. Gilles PERROUIN, Président, Université de NamurProf. Anthony CLEVE, Promoteur, Université de NamurProf. Benoît VANDEROSE, Membre interne, Université de NamurProf. Xavier DEVROEY, Membre interne, Université de NamurProf. Serge DEMEYER, Membre externe, Université d’AnversProf. Michele LANZA, Membre externe, Université de la Suisse ItalienneVous êtes cordialement invités à un drink, qui suivra la soutenance publique.You are kindly invited to a drink, which will follow the public defense.Pour une bonne organisation, merci de vous inscrire pour le lundi 19 août au plus tard.For a good organization, please register by Monday, August 19.

JuryProf. Wim VANHOOF, Président, Université de NamurProf. Benoit FRENAY, Promoteur, Université de NamurDr. Alexandre MAYER, Co-Promoteur, Université de NamurDr. Gilles PERROUIN, Membre interne, Université de NamurDr. Paul TEMPLE, Membre externe, Université de RennesProf. John A. LEE, Membre externe, Université de LouvainVous êtes cordialement invités à un drink, qui suivra la soutenance publique.You are kindly invited to a drink, which will follow the public defense.Pour une bonne organisation, merci vous inscrire pour le mardi 3 septembre au plus tard.For a good organization, please register by Tuesday, Septembre 3. 

La santé mentale est un enjeu central dans notre société actuelle. Selon le rapport international Mind Health d’AXA (2024), près de la moitié des Belges (49 %) rapportent des difficultés psychologiques, et 1 sur 5 rencontre des problèmes graves pour y faire face.

Au programme Pendant toute la semaine, des cours universitaires seront en accès libre pour aider les élèves à franchir cette première étape d’exploration de l’enseignement supérieur.Ils pourront également rencontrer un conseiller pour faire le point sur leur choix d’études, obtenir des informations sur les programmes ou les services offerts aux étudiants.Un atelier d’orientation sera aussi proposé le mardi 22 octobre, de 13h30 à 16h, pour réfléchir au processus d’orientation, mieux appréhender le paysage de l’enseignement supérieur et définir les balises principales dans le processus de clarification de leur projet (de formation et professionnel). Plus d'informations sur les cours ouverts Contacts Info étudesRue de Bruxelles, 85 5000 Namur+32 (0)81 72 50 30info.etudes@unamur.be

Gilles Perrouin vient de recevoir le prix pour l’article le plus influent à la conférence SPLC2024.  Ce prix vient souligner une fructueuse ligne de recherche sur le test de lignes de produits logiciels, déjà primée en février 2024.

L'Unité de Recherche en Pharmacologie et toxicologie Clinique (URPC) a pour mission principale de mener des études et des recherches visant à évaluer l'efficacité, la sécurité et l'impact clinique des médicaments, des traitements et des interventions médicales. Elle rassemble des acteurs des différents départements de la Faculté de médecine qui travaillent sur des thématiques similaires. 

Consanguinity refers to the offspring produced from the union of two closely related individuals who share at least one common ancestor (Temaj et al. 2022). Some communities have high rates of consanguineous marriages, especially in the Middle East, where consanguinity rates of first-cousin marriages vary in Gulf countries from 20 to 50 % (Ben-Omran et al. 2020). This high rate of consanguineous marriages is due to cultural, geographical, historical, financial, political, or religious reasons (Temaj et al. 2022) (Ben-Omran et al. 2020).Consanguinity increases the chance/risk/probability to be homozygous for rare mutations in the general population (Temaj et al. 2022). These mutations can cause recessive autosomal pathologies that may be extremely rare known as rare diseases (Temaj et al. 2022). In many Middle Eastern populations, consanguineous relationships are very common, providing geneticists with a valuable source for discovering "new" genes and identifying their functions (Ben-Omran et al. 2020). Identifying these genes can help carry out diagnostic and predictive tests (genetic counseling) in affected families (Ben-Omran et al. 2020; Temaj et al. 2022). In some cases, understanding the pathophysiological mechanisms involved in diseases can also lead to new therapeutic strategies (Salzberg 2018).In recent years, the development of Next Generation Sequencing (NGS) technologies has led to a faster identification of genes involved in rare diseases (Lal et al. 2016). Sequencing the entire genome (Whole Genome Sequencing, WGS) or the exome (Whole Exome sequencing, WES) can be achieved quickly and inexpensively (Salzberg 2018).Rare diseases are Mendelian monogenic diseases, that result from specific pathogenic variants in single genes, called germline mutations. These mutations occurring in the coding or the non-coding regions in the gene, can be inherited in dominant, recessive, or X-linked transmission modes within a family (Tukker et al. 2021). Coding sequences, known as exons, directly encode the amino acid sequence of proteins essential for various cellular functions, including enzymatic reactions, cell signaling, and structural support. Pathogenic variants within coding sequences can lead to significant disruptions and alterations in the protein structure, function, and stability (Li et al. 2013).  However non-coding sequences that represents around 98% of the entire human genome, include introns, enhancers, promotors, and regulatory elements that regulate genes’ expression. The presence of a pathogenic variant in one of these regions can alter mRNA processing and gene expression and disrupt the delicate balance of gene regulation. REFERENCEWhile coding regions, constitutes around 1 to 2% of the entire genome, , the precise functions of non-coding regions are still unraveled (Moyon et al. 2022).Our project has two main objectives.A) Firstly, to identify the pathogenic variant responsible for a syndromic neurodevelopmental disorder (NDD) in a young boy from a consanguineous Lebanese family. This step was achieved in 2020 and our results were published in Clinical Genetics. Indeed, a homozygous stop gain mutation in the BOD1 gene (p.R151*) was identified and was shown to be involved in the disease observed in this family. BOD1 is a crucial protein that inhibits the PP2A-B56 phosphatase at the kinetochore, which regulates the recruitment of various proteins (such as PLK1: Polo like Kinase 1 ) to ensure proper chromosome orientation during mitosis (Porter et al. 2013). Additionally, BOD1 is a part of a cytosolic variant of the SET1B/COMPASS complex, which affects the expression of genes related to fatty acid metabolism (Wang et al. 2017). Studies in Drosophila have shown that BOD1 depletion in neurons causes synapse morphological abnormalities and learning defects (Esmaeeli-Nieh et al. 2016). Moreover, BOD1 was described to be responsible for ataxic-like behaviors in mice with conditional in what tissue? Knock-Out (KO) of exon 2 of this gene in the lobes IV-V of the cerebellum  (Liu et al. 2022). On another note, a homozygous nonsense mutation in BOD1 gene (p.R112*) was identified in two related Iranian females, who were diagnosed with moderate form of ID (Intellectual Disability) and primary/secondary amenorrhea (Esmaeeli-Nieh et al. 2016).B) Secondly, we aimed to study the effect of the p.R151* mutation in BOD1 gene on protein expression. To achieve this, we used the CRISPR-Cas9 genome editing technique to create a knock-in (KI) of the mutation in HEK293T cells. We then analyzed the effect of this mutation on the expression of Bod1 protein using Western blot technique. Furthermore, we wanted to investigate the physiological and developmental function of the BOD1 gene. For this purpose, we have generated a conditional knock-out cKO mouse model.