Research & Scientists | Neurosciences | People | FATIMALOPES


Name: Fátima Lopes

Office: I2.03

School Phone: +351 253 604 835

Email: fatimalopes@med.uminho.pt




Keywords: Intellectual disability Array comparative genomic hybridization Massive parallel sequencing


Fátima is a PhD student at Life and Health Sciences ResearchInstitute (ICVS), School of Health Sciences (University of Minho) and is carrying her PhD studies under the project “Findingnovel genes for intellectual disability by whole exome sequencing” under the supervision of Professor Patricia Maciel. The main goal of her work is to identify new genetic causes ofintellectual disability (ID) using whole exome sequencing in patients with (a)non-syndromic ID, (b) ID associated with extreme obesity and (c) ID associatedwith neurological features, cortical malformations and/or abnormal OFC. 

Fátima has a 
Bsc in Pathologic, Cytologic and Thanatologic Anatomy (240 ECTS; ISCEDlevel 5) and a m
aster degree in Biotecnology (molecular filed) (thesis title: Genomic imbalances in patients withintellectual disability, Supervisor: Professor  Patrícia Espinheira Sá Maciel; Dissertationclassification: 19/20; 120 ECTS; ISCED level 5).
In the recent years Fátima has been a research technician (fellowship) at Life and Health Sciences ResearchInstitute – School of Health Sciences (ICVS – ECS) in the projectPIC/IC/83026/2007 “Idiopathic mental retardation: evaluation of a CGHmicroarray strategy for genetic diagnosis“. Themain goal of this project was to study Portuguese patients with idiopathic ID using an aCGH platform, in order to contribute for the etiologic classificationof these cases. The laboratorial work performed by me during this project couldbe divided in 3 phases: (I) establishment of a DNA bank from blood samples forthe patients the patients, both parents and, whenever significant, otherrelatives; (II) study genomic imbalance for the whole genome in patients withidiopathic ID by aCGH technique; (III) determine the contribution of the CNVsfound in the patients to their phenotype. 


Clinical and Genetic studies of human neurodevelopmental disorders  

Selected Publications

Lopes F*, Barbosa M*, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvanen AC, Gyllensten U, Pinto D, Maciel P. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Gen, 53(3):190-199 (2016).

Wen J*, Lopes F*, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E. Phenotypic and functional characterization of a recurrent microdeletion involving the 2p13.2 region. Orphanet J Rare Diseas, 8(1):100 (2013).

Vieira JP*, Lopes F*, Silva-Fernandes A, Sousa MV, Moura S, Sousa S, Costa BM, Barbosa M, Ylstra B, Temudo T, Lourenço T, Maciel P. Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to overexpression of the MECP2 gene in the absence of gene duplication. Int J Develop Neurosci, 46:82-87 (2015).

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, D’heedene A, Bockaert N, Roelens F, Karin Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staroploi JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Redefining the MED13L syndrome. Eur J Hum Genet, in press.

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