Browsing by Issue Date, starting with "2015-01-16"
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- System Biology Approach for Cardiovascular MedicinePublication . Mariano, Cibelle; Antunes, Marília; Bourbon, MafaldaObjetives: This research project proposes the study of associaSons and/or interacions between genetic, non-genetic and environmental factors and its effects on a very important dyslipidaemia marker, apolipoprotein B (apoB) levels, by modelling genetic predisposition, biological and environmental components (such as lifestyle and behavioral variables) with apoB serum levels. It is also proposed the characterizacion of the lipid and genetic cardiovascular risk profiles of the Portuguese populacion, as well as the correlaSon between dyslipidaemia and other cardiovascular risks and biochemical markers.
- Exome Sequencing in Familial HypercholesterolemiaPublication . Alves, Ana Catarina
- System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorder (ASD), based on extensive genomic, biochemical and clinical dataPublication . Asif, Muhammad; Vicente, A.M.; Couto, Francisco M.Background: Autism Spectrum Disorder (ASD) is characterized by social communication impairments and repetitive behaviors, a clinical presentation spectrum and a high male to female ratio. Twin and family studies indicated a strong genetic basis for ASD, with approximately 20% of ASD etiologies residing with identified genetic abnormalities. Behavioral traits in the ASD spectrum are prevalent in unaffected family members, highlighting a trait heritability likely mediated by genetic factors that impact ASD risk. However, the impact of genetic factors on the phenotype and its variability is still not well understood. Due to the absence of underlying biological markers, ASD is still diagnosed by assessing the individual’s behavior. The understanding of the biological basis of ASD can contribute to an earlier diagnosis and then to early intervention, which can have a substantial positive effect on child developmen.
- Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemiaPublication . Rossi, Niccolò; Bourbon, MafaldaObjectives: The main objective of my work is to fill the gap existing between clinical and genetic diagnosis of dyslipidemia disorders and to get a deeper insight into its variability of expression through NGS, microRNA (miRNA) profiling and omic data integration approaches. Familial hypercholesterolemia (FH) is still largely underdiagnosed and undertreated: this work could greatly contribute to the early and definite diagnosis of the disease with a potential application for targeted therapy.