Dr. Susana Carmona earned her B.S. in biomedical laboratory science from the Polytechnic Institute of Castelo Branco, Portugal, and her Ph.D. in biomedical sciences from the University of Coimbra, Portugal. Her graduate work focused on the identification of candidate genes associated with primary congenital glaucoma in patients negative for CYP1B1 gene mutations. Previously, she was a postdoctoral fellow at the U.K. Dementia Research Institute (University of College London), where she studied genetic variants in Alzheimer´s disease and other neurodegenerative disorders. In 2019, she joined the laboratories of Dr. José Brás and Dr. Rita Guerreiro as a postdoctoral fellow.
Alzheimer’s disease (AD) is the most common form of dementia among the elderly. This disease is considered a major public health problem due to its severity and long clinical course. Several studies have demonstrated the importance of genetic factors in the pathogenesis of this complex multifactorial disorder. Currently, APOE e4 allele is the strongest genetic risk factor for AD, increasing risk of disease 12-fold. However, the exact mechanism how APOE influences the risk of AD is still unclear. The large majority of APOE genetics studies are focused in the two SNPs that constitute APOE e4 allele: rs429358 and rs7412. Almost no information is known about the possible impact of other APOE variants in AD risk.
With this project, we intend to sequence the entire APOE gene and promoter region of approximately 10,000 samples of patients with neuropathological diagnosis of AD. This will allow us to characterize the genetic variability of APOE in AD, understand the possible impact of loss-of-function variants in AD risk and how these variants correlate with APOE e4 allele and other haplotypes.
Ph.D. in biomedical sciences, University of Coimbra, Portugal (Advisor: Dr. Conceicao Egas and Dr. Eduardo Silva)
Thesis: Identification of candidate genes associated to primary congenital glaucoma in patients negative for CYP1B1 gene mutations
B.S. in biomedical laboratory science, Polytechnic Institute of Castelo Branco, Portugal
Scholarship Merit, Polytechnic Institute of Castelo Branco (2008)
Caixa Geral de Depósitos Merit Award, Caixa Geral de Depósitos (2008)
Best IPCB Student from Freguesia de Castelo Branco Award, Freguesia de Castelo Branco (2007)
Best IPCB Student from Freguesia de Castelo Branco Award, Freguesia de Castelo Branco (2006)
To view a list of selected publications click below.
Sundal C, Carmona S, Yhr M, Almström O, Ljungberg M, Hardy J, Hedberg-Oldfors C, Fred Å, Brás J, Oldfors A, Andersen O, Guerreiro R. 2019.An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. Acta Neuropathol Commun.
Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Guerreiro R, Bras J.2019. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiol Aging 75:223.e1–223.e10.
Carmona S, Marecos C, Amorim M, Ferreira AC, Conceição C, Brás J, Duarte ST, Guerreiro R. 2018. AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria. Neurol Genet 4(5):e273.
Carmona S, Zahs K, Wu E, Dakin K, Bras J, Guerreiro R. 2018. The role of TREM2 in Alzheimer’s disease and other neurodegenerative disorders. Lancet Neurol 17(8):721–730.
Carmona S, Hardy J, Guerreiro R. 2018. The genetic landscape of Alzheimer disease. Handb Clin Neurol 148:395–408.
Carmona S, Kun-Rodrigues C, Brás J, Guerreiro R. 2017. Revisiting the genetics of APOE. Sinapse 17(2):27–36.
Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. 2017. Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiol Aging 58:240.e1–240.e3.
Carmona S, Freitas ML, Froufe H, Simões MJ, Sampaio MJ, Silva E, Egas C. 2017. Novel de novo FOXC1 nonsense mutation found in an Axenfeld-Rieger syndrome patient. Am J Med Genet A 173(6):1607–1610.
Simões MJ, Carmona S, Roberts R, Wainwright G, Faro C, Silva E, Egas C. 2016. CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients. Ophthalmic Genet 38(2):197–199.
Simões MJ, Lobo C, Egas C, Nunes S, Carmona S, Costa MA, Duarte T, Ribeiro L, Faro C, Cunha-Vaz J. 2014. Genetic variants in ICAM1, PPARGC1A and MTHFR are potentially associated with different phenotypes of diabetic retinopathy. Ophthalmologica 232(3):156–162.
Vieira R, Simões MJ, Carmona S, Egas C, Faro C, Figueiredo A. 2013. Identification of DLEC1 D215N somatic mutation in formalin fixed paraffin embedded melanoma and melanocytic nevi specimens. J Skin Cancer 2013:469671.
Carmona S, Velada I, Sousa T, Gonçalves AS, Gonçalves M, Tavares PF, Rodrigues Santos P. 2011. Expression profile of 846 microRNAs in chronic myeloid leukemia: correlations with Interferon alpha, Imatinib and Dasatinib therapy. Acta Médica Portuguesa Suplement n.º 1 /2011.