32 documents found, page 1 of 4
Neurometabolic profiles of autism spectrum disorder patients with genetic varia...
Vilela, Joana; Pereira, Andreia C.; Violante, Inês R.; Mouga, Susana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana RitaAutism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton...
Exploring literacy and knowledge gaps and disparities in genetics and oncogenom...
Nikitara, Katerina; Cardoso, Maria Luis; Vicente, Astrid Moura; Rasga, Célia Maria Batalha Silva; De Angelis, Roberta; Morel, Zeina ChamounBackground: Genetic and genomic literacy is pivotal in empowering cancer patients and citizens to navigate the complexities of omics sciences, resolve misconceptions surrounding clinical research and genetic/genomic testing, and make informed decisions about their health. In a fast-evolving scenario where routine testing has become widespread in healthcare, this scoping review sought to pinpoint existing gaps i...
Workshop Implementation of Genomics in Healthcare
Vicente, Astrid Moura; Cardoso, Maria LuisThe first B1MGPlus workshop, held in Bucharest, launched the activities of Work Package 3 (WP3) and Working Group 7 (WG7) of the 1+MG Initiative, focusing on the implementation of genomics in healthcare across Europe. The event gathered experts, policymakers, and stakeholders from multiple countries, providing a platform to discuss challenges, share national experiences, and explore strategies for integrating g...
Comprehensive Genetic Analysis Provides Novel Insights Into The MicroRNA Regula...
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...
The PROPHET Framework for Personalised Prevention
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-wor...
An Experts Reflection on the Progress and Future of PM on the 10th Anniversary ...
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.
Alle Frequency Distribution Of Clinicaly Relevant Pharmacogenetic Variants In G...
Simões, Raquel; Cardoso, Maria Luis; Martiniano, Hugo F. M. C.; Vicente, Astrid MouraIntroduction: Pharmacogenetics (PGx) is the study of how genetic variants affect drug response. PGx variants can affect either pharmacokinetics – the processes of drug absorption, distribution, metabolism, and elimination – or pharmacodynamics – the biochemical and physiological effects of drugs and their mechanisms of action. Pharmacokinetics gene variants often define haplotypes, which are described using the...
ICPerMed Working Group Policy & Strategy and EP PerMed - Synergies and Cooperation
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.
Workforce Skills And Organisation: Perspectives From Educators And Health Profe...
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.
Base Legal para a Implementação da Iniciativa 1 Milhão de Genomas (1+MG) Workshop
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 U...