BTR – Biomedical and Translational Research Lino Almeida
BTR – Biomedical and Translational Research
The overall aim of the
Biomedical & Translational Group
is to understand the interplay of biological – including genetic or epigenetic factors -, life style and environmental determinants that sustain a healthy life or lead to disease onset, and to translate this knowledge into better health promotion, disease prevention practices and improved diagnosis or therapies.
The BTR group gathers several research teams mainly contributing to the Biomedicine, Bioinformatics & Modelling and Biophysics thematic strands, and cooperating with other thematic lines as new challenges arise. Each research team has been focusing on the dynamics of one or several disorders, on population health determinants and/or on therapy efficacy or adverse reactions, generating and analyzing information at multiple levels on large population datasets. The research teams are established in academic settings (e.g., Deafness group at FCUL), at the Portuguese public health institute (e.g., the Neurogenetics and Mental Health group, the Cardiovascular Disease group and the Cellular and Molecular Immunology group , all at INSA) or in a clinical research environment (the Molecular Pathology group at Hospital de Ponta Delgada).
BTR research teams gather and analyze multilevel data on large datasets of the general population or populations affected with multifactorial diseases, namely brain disorders (ASD, AD, HL and more recently language disabilities) and cardiovascular diseases (CVD) (including FH, ATH, CAD, MI, CHD and stroke).
For specific disease models, the BTR group will strategically focus on: 1) comprehensive data collection and analysis of health and disease determinants for identification of disease biomarkers, broader understanding of disease physiopathology and development of improved therapeutics ; 2) a holistic approach to research in individuals and populations, integrating multiple layers of information from socio-demographic to clinical to genomic; 3) personalized medicine, targeting the identification of factors influencing individual response to therapy, as well as the implementation of a database and biobank for pharmacogenomics.
Post Docs: Ana Catarina Alves | Célia Rasga | Claudia Branco | Inês Conceição | Tiago Matos
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee S.H. et al. (2013) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 45(9):984-94. PMID
Alves C. et al. (2013). Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. Human Molecular Genetics. 23(7):1817-28. PMID
Catarina T. et al (2014). Recurrent duplications of the Annexin A1 gene (ANXA1) in autism spectrum disorders.Molecular Autism, 10;5(1):28. PMID
Pinto D. et al. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. The American Journal of Human Genetics 2014, May 1; 94:1-18. PMID
Holmes M. V. et al. (2014) Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. British Medical Journal, 349: g4164. PMID