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- System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical dataPublication . Asif, M.; Couto, F.; Vicente, A.M.Objectives: The overall objective of the present work is to better understand the biological basis of ASD phenotypic variability and facilitate a fast and accurate ASD diagnosis by seeking behavior associations with specific genetic risk factors for ASD. More specifically the aims are: - ASD data repository and Knowledge base graph: To design and establish a dynamic resource repository for ASD data storage and management; - Behavior Signature for Genetic factors: To associate ASD behavior signatures with genetic data (CNVs and SNV characteristics). Functional genomics data (miRNA, metabolome and neurophysiologic data) will also be included in model definition; - Semantic layer and Enrichment analysis: To enable the integration of a semantic layer to available data. - Predictive models for ASD diagnosis and prognosis: to define predictive models for ASD based on systems biology approaches. - Framework development: To set up a framework – pipeline for analysis of ASD and other related complex diseases.
- System Biology Approach for Cardiovascular MedicinePublication . Mariano, Cibelle; Antunes, Marília; Bourbon, MafaldaObjectives: This research project proposes the study of interactions between biological, including genetics, and environmental factors that give rise to the cardiovascular risk profile as well as to characterise the genetic cardiovascular risk profile of the Portuguese population. It is also proposed to study the differential expression pattern between a control and disease premature myocardial infarction) population in order to identify novel biomarkers for the early identification of at risk subjects. e results should have a high impact on the definition of criteria for identifying individuals at high risk of developing cardiovascular disease.