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Oliveira, Sofia A.
Lab

Genómica de Doenças Complexas

O principal objetivo da nossa investigação é identificar novos genes de suscetibilidade para doenças complexas tais como a doença de Behçet (DB), o pneumotórax espontâneo primário (PEP), os aneurismas intracranianos (AI), o acidente vascular cerebral e a doença de Parkinson. Embora haja evidência de fatores de risco ambientais, estudos epidemiológicos e em famílias apoiam fortemente a existência de fatores de risco genéticos para estas doenças.

As abordagens que temos vindo a seguir incluem o estudo do papel do genoma mitocondrial, estudos de expressão genómica, análises in sílico de vias metabólicas, estudos de associação em genes selecionados ou genome-wide com DNA pooling, sequenciação de próxima geração e modelos animais. Esta estratégia multifacetada vai contribuir para uma melhor compreensão da componente genética de doenças complexas, o que pode conduzir a avanços na investigação, prevenção, diagnóstico e terapia.

  • Áreas de Investigação

    • Doença de Behçet
    • Pneumotórax espontâneo primário
    • Aneurismas intra-cranianos
    • Acidentes vasculares cerebrais
    • Doença de Parkinson
    • Genética
    • Genómica
  • Equipa de Investigação

    • Projectos de Investigação em Curso

      • 2012 LÓREAL Award for Women in Science (PI: Sousa I, €20.000)
      • 2012 NEDAI (Study Group for Auto-Immune Diseases) Award (PI: Oliveira SA, €10.000)
      • "Glucocerebrosidase in Parkinson's disease: from risk factor to biomarker" FCT Grant PTDC/DTP-PIC/0904/2012 (Participant: Oliveira SA, 2013-2015, €171.958)
      • "Patients as health care innovators: An empirical investigation of treatment, therapies and medical devices (TT&MD) developed by patients of chronic diseases" FCT Grant PTDC/IIM-GES/5015/2012 (Participant: Oliveira SA, 2013-2015, €180.174)
      • "Technology, Entrepreneurship and Innovation Policy Lab" FCT Grant CMUP-ERI/TPE/0028/2013 (Participant: Oliveira SA, 2014-2018, €349.700)
    • Prémios

      • 2006 Best Scientific Article award from the Jacinto Magalhães Medical Genetics Institute (Portugal) for the "Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease" paper
      • 2008 Basic Research Award from the Portuguese Society of Human Genetics to Madalena Martins (post-doctoral fellow)
      • 2009 Prof. Aurélio Quintanilha Award from the Portuguese Genetics Society to Tiago Krug (PhD student)
      • 2010 Young Investigator Award from the International Society for Behçet's disease to Joana Xavier (PhD student)
      • 2011 Basic Research Prize from the Portuguese Society of Human Genetics to Madalena Martins (post-doctoral fellow)
      • 2012 FCT/UNESCO L'Óreal Prize for Women in Science to Inês Sousa (post-doctoral fellow)
      • 2012 NEDAI Prize for Clinical Research in Auto-Immunity to Joana Xavier (PhD student)
      • 2013 Prémio Robalo Cordeiro SPP/GSK.
    • Publicações Seleccionadas

      • 1. Rosa A, Fonseca BV, Krug T, Manso H, Gouveia L, Albergaria I, Gaspar G, Correia M, Viana-Baptista M, Simões RM, Pinto AN, Taipa R, Ferreira C, Fontes JR, Silva MR, Gabriel JP, Matos I, Lopes G, Ferro JM, Vicente AM, Oliveira SA. Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients. BMC Medical Genetics 9:57, 2008.
      • 2. Krug T, Manso H, Gouveia L, Sobral J, Xavier JM, Albergaria I, Gaspar G, Correia M, Viana-Baptista M, Simões RM, Pinto AN, Taipa R, Ferreira C, Fontes JR, Silva MR, Gabriel JP, Matos I, Lopes G, Ferro JM, Vicente AM, Oliveira SA. Kalirin: A novel genetic risk factor for ischemic stroke. Human Genetics 127:513-23, 2010.
      • 3. Xavier JM, Shafiee NM, Ghaderi F, Rosa A, Abdollahi BS, Nadji A, Shahram F, Davatchi F, Oliveira SA. Association of mitochondrial polymorphism m.709G>A with Behçet's disease (BD). Annals of the Rheumatic Diseases 70:1514-16, 2011.
      • 4. Gouveia LO, Sobral J, Vicente AM, Ferro JM, Oliveira SA. Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort. Atherosclerosis 217:260-62, 2011.
      • 5. Martins M, Rosa A, Guedes LC, Fonseca BV, Violante S, Mestre T, Coelho M, Rosa MM, Martin ER, Vance JM, Outeiro TF, Wang L, Borovecki F, Ferreira JJ, Oliveira SA. Convergence of microRNA expression profiling, α-synuclein interacton and GWAS results support the role of the glycosphingolipid biosynthesis and the ubiquitin proteasome system in Parkinson's disease. PLoS One 6:e25443, 2011.
      • 6. Krug T, Gabriel JP, Taipa R, Fonseca BV, Domingues-Montanari S, Fernandez-Cadenas I, Manso H, Gouveia L, Sobral J, Albergaria I, Gaspar G, Jiménez-Conde J, Rabionet R, Ferro JM, Montaner J, Vicente AM, Silva MR, Matos I, Lopes G, Oliveira SA. Tetratricopeptide repeat domain 7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches. Journal of Cerebral Blood Flow and Metabolism 32:1061-1072, 2012.
      • 7. Xavier JM, Shahram F, Davatchi F, Rosa A, Crespo J, Abdollahi BS, Nadji A, Jesus G, Barcelos F, Patto JV, Shafiee NM, Ghaderibarim F, Oliveira SA. Association study of IL10 and IL23R-IL12RB2 in Iranian Behçet's disease patients. Arthritis & Rheumatism 64:2761-2772, 2012.
      • 8. Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC, Fornage M, Ikram MA, Malik R, Bevan S, Thorsteinsdottir U, Nalls MA, Longstreth W, Wiggins KL, Yadav S, Parati EA, Destefano AL, Worrall BB, Kittner SJ, Khan MS, Reiner AP, Helgadottir A, Achterberg S, Fernandez-Cadenas I, Abboud S, Schmidt R, Walters M, Chen WM, Ringelstein EB, O'Donnell M, Ho WK, Pera J, Lemmens R, Norrving B, Higgins P, Benn M, Sale M, Kuhlenbäumer G, Doney AS, Vicente AM, Delavaran H, Algra A, Davies G, Oliveira SA, Palmer CN, Deary I, Schmidt H, Pandolfo M, Montaner J, Carty C, de Bakker PI, Kostulas K, Ferro JM, van Zuydam NR, Valdimarsson E, Nordestgaard BG, Lindgren A, Thijs V, Slowik A, Saleheen D, Paré G, Berger K, Thorleifsson G; The Australian Stroke Genetics Collaborative, Wellcome Trust Case Control Consortium 2 (WTCCC2), Hofman A, Mosley TH, Mitchell BD, Furie K, Clarke R, Levi C, Seshadri S, Gschwendtner A, Boncoraglio GB, Sharma P, Bis JC, Gretarsdottir S, Psaty BM, Rothwell PM, Rosand J, Meschia JF, Stefansson K, Dichgans M, Markus HS; on behalf of the International Stroke Genetics Consortium. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies. Lancet Neurology 11:951-962, 2012.
      • 9. Xavier JM, Krug T, Davatchi F, Shahram F, Fonseca BV, Jesus G, Barcelos F, Vedes J, Salgado M, Abdollahi BS, Nadji A, Moraes-Fontes MF, Shafiee NM, Ghaderibarmi F, Vaz Patto J, Crespo J, Oliveira SA. Gene expression profiling and association studies implicate the neuregulin signalling pathway in Behçet's disease susceptibility. Journal of Molecular Medicine 91:1013-1023, 2013.
      • 10. Matos M, Xavier JM, Abrantes P, Sousa I, Rei N, Davatchi F, Shahram F, Jesus G, Barcelos F, Vedes J, Salgado M, Abdollahi BS, Nadji A, Moraes-Fontes MF, Shafiee NM, Ghaderibarmi F, Vaz Patto J, Crespo J, Oliveira SA. IL10 low-frequency variants in Behçet's disease patients. International Journal of the Rheumatic Diseases 2014 Apr 8. doi: 10.1111/1756-185X.12369.
      • 11. Xavier JM, Shahram F, Sousa I, Davatchi F, Matos M, Abdollahi BS, Sobral J, Nadji A, Oliveira M, Ghaderibarim F, Shafiee NM, Oliveira SA. FUT2: filling the gap between genes and environment in Behçet's disease? Annals of the Rheumatic Diseases 74:618-624, 2015.
      • 12. Xavier JM, Davatchi F, Abade O, Shahram F, Francisco V, Sadeghi Abdollahi B, Trindade H, Nadji A, Mojarad Shafiee N, Ghaderibarmi F, Ligeiro D, Oliveira SA. Characterization of the major histocompatibility complex locus association with Behçet's disease in Iran. Arthritis Research & Therapy 17:81, 2015.

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