graduation at Biomedicina from Universidade Federal de São Paulo (2011), master's at Biologia Estrutural e Funcional from Universidade Federal de São Paulo (2014) and doctorate at Biologia Estrutural e Funcional from Universidade Federal de São Paulo (2018). , acting on the following subjects: array, cnv, microdeleção, desequilíbrio genômico and rearranjo cromossômico. (Source: Lattes Curriculum)
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Epileptic encephalopathies (EEs) are epileptic conditions characterized by epileptiform abnormalities associated with progressive brain dysfunction. One of the genes related to EEs is the SYNGAP1 gene, which is related to the synaptic activity of excitatory neurons, so that haploinsufficiency of this gene impairs neuronal development. In this proposal, we will establish a large-scale CRIS…
The genetic architecture of neurodevelopmental disorders (NDD) includes rare, highly penetrant mutations and common variants of smaller effect. De novo, rare loss-of-function (LoF) and missense mutations in evolutionarily constrained genes are the strongest known risk factors for NDD, and these genes are particularly enriched in two main pathways: (1) neuronal communication and (2) regula…
The neurodevelopmental disorders (NDDs) are characterized by variations in the functioning of the neural system that can occur since the fetal period. It can impact the individual's intellectual, physical, and/or mental characteristics throughout their life. Rare genetic diseases are often associated with the NDDs. Rare genomic variants associated with these syndromes are commonly situate…
The neurodevelopmental disorders (NDDs) are characterized by variations in the functioning of the neural system that can occur since the fetal period. It can impact the individual's intellectual, physical, and/or mental characteristics throughout their life. Rare genetic diseases are often associated with the NDDs. Rare genomic variants associated with these syndromes are commonly situate…
Introduction: Rare de novo loss-of-function (LoF) genetic variants in genes encoding genic expression regulators compose risk factors commonly associated to neurodevelopmental diseases (NDDs). POGZ represents a significant model within this gene class, so that rare variants on this gene are associated to White-Sutton syndrome.Objectives: Establishment of isogenic models of human induced p…
(Only some records are available in English at this moment)
Introduction: Rare de novo loss of function (LoF) and missense variants in genes that encode gene expression regulators constitute risk factors commonly associated with neurodevelopmental diseases (NDD). CREBBP represents a great model within this class of genes, since several mutational mechanisms act in its association with NDD. While CREBBP haploinsufficiency, either by microdeletions …
A great challenge for cytogeneticists is to understand the genetic basis of the phenotypic variations and its implication for human diseases. Chromosomal rearrangements are an efficient tool for the investigation of the consequences of deletion, duplication or disruption of genes. This project contains three subprojects as follows: Subproject 1: analysis of women with balanced X-autosome …
In her master's thesis, the student Mariana Moyses Oliveira described a female patient with a balanced translocation t(X;9)(q23,q12) that caused AMMECR1 gene disruption in the X chromosome breakpoint, leading to the absence of functional copies of this gene. AMMECR1 gene function has not been described yet, however it is known that, under normal conditions, its expression is ubiquitous an…
(Only some records are available in English at this moment)
Balanced structural rearrangements may induce position effects by modifying specific cis- and trans-acting DNA regulatory element, thus changing the overall chromatin topology and DNA accessibility. Disease-associated balanced chromosomal rearrangements are good paradigms to assess the mechanism underlying these genome reorganizations. Women with balanced X-autosome translocations constit…
| 2 / 2 | Ongoing research grants |
| 4 / 4 | Ongoing scholarships in Brazil |
| 5 / 5 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 12 / 12 | All research grants and scholarships |
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CV Lattes
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