Ana Rita Marques

National Institute of Health Dr. Ricardo Jorge | INSA · Department of Health Promotion and Chronical Diseases

Background Public health genomics recognises the potential of genomic knowledge for enhancing population health. Adverse drug reactions (ADR) and lack of efficacy have significant clinical and economic burdens, which can be mitigated by pharmacogenomics (PGx) testing. Pharmacists can play a vital role in facilitating the implementation of PGx into...

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Bra...

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clari...

Personalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few year...

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we...

Heritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for gene-environment interactions is insufficiently explored. Genes involved in detoxification pathways and physiological permeability barriers (e.g., blood-brain barrier, placenta and respiratory airways), w...

A Perturbação do Espectro do Autismo (PEA) é uma patologia do neurodesenvolvimento caracterizada por dificuldades de socialização e/ou comunicação e por comportamentos estereotipados e repetitivos. Estudos de heritabilidade indicam que fatores genéticos contribuem para 50-80% do risco de desenvolver PEA, mas os mecanismos genéticos não são bem conh...

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay...

Personalized medicine promises to revolutionize healthcare in the coming years. However significant challenges remain, namely in regard to integrating the vast amount of biomedical knowledge generated in the last few years. Here we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph as a path to re...

The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype makes molecular diagnosis and patient prognosis challenging tasks. To establish more precise genotype–phenotype correlations in ASD, we developed a novel machine-learning integrative approach, which seeks to delineate associations between patients’ cl...

Introduction: Autism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder defined by deficits in social communication and interaction and repetitive and stereotyped interests and behaviors. ASD heritability estimates of 50-83% support a strong role of genetics in its onset, with large sequencing studies reporting a high...

Background: Autism Spectrum Disorder (ASD) is a pervasive and clinically heterogeneous neurodevelopmental disorder by deficits in social communication and interactions skills, and repetitive and stereotyped behaviours. It has becomes apparent that ASD has a strong genetics component, however, the level of heritability is still debated, suggesting t...

The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype make molecular diagnosis and patient prognosis challenging tasks. To establish more precise genotype-phenotype correlations in ASD, we developed a novel machine learning integrative approach, which seeks to delineate associations between patients’ cli...

Genetic factors account for 50 to 80% of Autism Spectrum Disorder (ASD) risk, suggesting that modifiable non- genetic factors may play an important role in ASD. Pre-, peri and post-natal exposure to a variety of environmental factors have previously been implicated in its etiology. However, the comprehensive assessment of environmental exposure in...

The 21st annual meeting of the Portuguese Society of Human Genetics (SPGH), organized by Luísa Romão, Ana Sousa and Rosário Pinto Leite, was held in Caparica, Portugal, from the 16th to the 18th of November 2017. Having entered an era in which personalized medicine is emerging as a paradigm for disease diagnosis, treatment and prevention, the progr...

A Perturbação do Espetro do Autismo (PEA) tem uma heritabilidade esti-mada de 50%, indicativa de uma componente genética que pode ser mo-dulada por fatores ambientais. A evidência de associação com autismo de alguns compostos potencialmente tóxicos levou-nos a colocar a hipótese de que genes envolvidos em processos de destoxificação e regulação da...

The bed nucleus of the stria terminalis (BNST) is critically implicated in anxiety behavior and control of the hypothalamus-pituitary-adrenal axis. Having previously shown that chronic stress triggers dendritic/synaptic remodeling in specific nuclei of the BNST, we characterised the pattern of activation of neurons within different regions of the B...