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- Comprehensive Genetic Analysis Provides Novel Insights Into The MicroRNA Regulatory Landscape of Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, Hugo; Santos, João Xavier; Vilela, Joana; Asif, Muhammad; Sousa, Lisete; Oliveira, Guiomar; Vicente, Astrid MouraBackground: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Many risk genes are associated with ASD, however most of the genetic determinants are still unknown and a role for gene regulatory mechanisms is likely. MicroRNAs (miRNAs) regulate gene expression, playing key roles in neural development and function, and have been implicated in ASD onset and progression. Methods: To identify miRNA potentially associated with ASD, we conducted a comprehensive analysis of Single Nucleotide Variants (SNVs) and Copy Number Variants (CNVs) from ASD patients (N = 4300 and N = 3570, respectively) and control subjects (N = 67442 and N = 9649, respectively). We further performed functional enrichment analysis to understand the functional impact of these miRNAs variants. Results: Our results identified 28 miRNAs significantly enriched for putative disrupted SNVs and 31 miRNAs exclusively or more frequently targeted by CNVs in ASD cases, when compared to controls (α=0.05). These genes encode 70 mature miRNAs, including some novel and others previously implicated in ASD, that are predicted to target 2745 brain-expressed genes. Functional analysis indicates they are enriched in processes such as cellular signaling, gene regulation, protein metabolism, and chromatin structure, all of which are critical for ASD development. Interestingly, 44 of the identified miRNAs are predicted to regulate 71 genes strongly associated with increased ASD risk. Conclusion: This comprehensive gene-based analysis highlights miRNAs that regulate gene networks and cellular pathways essential for brain function and plasticity, which are often disrupted in ASD patients.
- Clinical Research In Rare Diseases: The Example of HoFHPublication . Medeiros, AnaLecture on an Example of Homozygous Familial Hypercholesterolemia (HoFH), within the framework of Clinical Research in Rare Diseases.
- Multi-Level Model (MLM) Pilot in PortugalPublication . Cardoso, Maria LuisThe MLM (Multi-Level Model) Pilot is a demonstration initiative under the European project B1MGplus (Beyond 1 Million Genomes Plus, 2024–2026). Its main goal is to test secure, federated sharing and analysis of genomic and health data across European countries.
- The Prophet Appraisal Framework For Personalised PreventionPublication . Vicente, AstridThe PROPHET Framework evaluates personalised prevention policies using genetic technologies. It combines technology assessment, health impact analysis, and ongoing monitoring to ensure policies are effective, fair, and sustainable. This helps improve healthcare decisions and benefits for patients and society.
- Session 4: Using and Upgrading the Genomics in Healthcare Maturity Level ModelPublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- A European Network for Genomics in HealthcarePublication . Vicente, Astrid MouraThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Updates From Implementing Projects (B1MGplus)Publication . Vicente, Astrid Moura; Cividanes, LeneThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Workforce Skills And Organisation: Perspectives From Educators And Health ProfessionalsPublication . Vicente, Astrid MouraThe presentation focuses on workforce skills and organizational perspectives from educators and health professionals within the scope of the Beyond 1 Million Genomes Plus (B1MGplus) project, which aims to create a European cross-border network of genomic and clinical data to improve healthcare outcomes.
- The PROPHET Framework for Personalised PreventionPublication . Vicente, Astrid MouraThe PROPHET Framework proposed consists in a multidimensional appraisal framework for personalised prevention initiatives, with a sequential approach of Health Technology Assessment, Health Impact Assessment, and Monitoring. This integration bridges technical, clinical, and societal dimensions, ensuring that personalized prevention strategies are not only effective but also equitable and sustainable in real-world settings.
- An Experts Reflection on the Progress and Future of PM on the 10th Anniversary of the European Council ConclusionsPublication . Vicente, Astrid MouraICPerMed is a platform that supports strategic and funding coordination, sharing and collaboration to promote research and implementation of personalized medicine (PM) approaches. Foreword to Session 3 and the ICPerMed Policy & Strategy WG.