Joana Vilela

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

MS

About

20
Publications
1,446
Reads
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133
Citations
Citations since 2017
18 Research Items
111 Citations
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2017201820192020202120222023051015202530
Additional affiliations
September 2009 - June 2013
CIBIO Research Center in Biodiversity and Genetic Resources
Position
  • MSc student; Research fellow.

Publications

Publications (20)
Article
Full-text available
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...
Article
Full-text available
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...
Article
Full-text available
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...
Article
Full-text available
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...
Article
Full-text available
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...
Chapter
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...
Article
Full-text available
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...
Preprint
Full-text available
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...
Preprint
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...
Preprint
Full-text available
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...
Poster
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...
Article
Full-text available
Introgressive hybridization is an important and widespread evolutionary process, but the relative roles of neutral demography and natural selection in promoting massive introgression are difficult to assess and an important matter of debate. Hares from the Iberian Peninsula provide an appropriate system to study this question. In its northern range...
Article
Full-text available
Mitochondria play a fundamental role in cellular metabolism, being responsible for most of the energy production of the cell in the oxidative phosphorylation (OXPHOS) pathway. Mitochondrial DNA (mtDNA) encodes for key components of this process but its direct role in adaptation remains far from understood. Hares (Lepus spp.) are privileged models t...

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Projects

Projects (2)
Project
The GEnvIA project aims to integrate genetic, early-life exposure and clinical data collected from Portuguese subjects with Autism Spectrum Disorder. It is a multidisciplinary project that encompasses large sequencing protocols, mass spectrometry techniques and bioinformatics and machine learning approaches.
Project
Identify genes involved in the disease.