CV Lattes
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Universidade de São Paulo (USP). Instituto de Biociências (IB) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduation at Ciências Biológicas from Universidade de São Paulo (1993), master's at Genetics from Universidade de São Paulo (1996) and doctorate at Genetics from Universidade de São Paulo (2001). He is currently assistant professor at Instituto de Biociências da Universidade de São Paulo. Has experience in Genetics, focusing on Human and Medical Genetics, acting on the following subjects: rearranjos estruturais, mapeamento de pontos de quebra, origem parental, mecanismos de formação de rearranjos estruturais and array-cgh. (Source: Lattes Curriculum)
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Neurodevelopmental disorders encompass a range of conditions that involve changes in brain development, including intellectual disability (ID) and autism spectrum disorder, among others. This study aims to investigate the genetic and pathophysiological mechanisms underlying alterations in two genes as potential causes of ID: AHDC1, associated with an autosomal dominant form of syndromic I…
Most rare diseases have an underlying genetic cause for their condition. There are more than 7,000 rare diseases, ~80% of which are thought to have a genetic cause. The majority (50-75%) of rare diseases affect children, and many are severe multisystem disorders with a range of phenotypes. Although individually they are rare, collectively they are responsible for 35% of deaths in the firs…
The DNA sequence is now the main source of biological information at individual and population levels. Hundreds of thousands of human genomes were sequenced, but only a few were analyzed cytogenetically. Chromosomal alterations occur in a small percentage of all live newborns, usually causing diseases. However, with the advent of molecular cytogenetics and, more recently, second generatio…
Cancer is the main cause of death due to illness among children and adolescents in Brazil. Although approximately 80% of these patients survive over 5 years, this population is likely to suffer serious adverse effects because of the treatment received, like heart disease, lung problems, and subsequent tumors. Pediatric cancers present distinct biological profiles compared to adult tumors;…
(Only some records are available in English at this moment)
Changes in various biological pathways may be involved in the etiology of neurodevelopmental disorders (NDD); however, there is an enrichment of genes related to epigenetic regulation. The EHMT1/2 complex primarily acts in the methylation of lysine 9 of histone H3 (H3K9), which is relevant for key processes in neuronal development. Mutations in EHMT1 that alter the binding/function of EHM…
(Only some records are available in English at this moment)
The Xia-Gibbs syndrome (XGS, OMIM #615829) is a neurodevelopmental disorder caused by pathogenic variants in heterozygosity in the AHDC1 gene. The main clinical features of XGS include hypotonia, motor and speech delay, and intellectual disability. The pathophysiology of XGS is not fully understood, requiring additional functional studies. We developed a zebrafish (Danio rerio) model with…
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability with dominant autosomal inheritance, caused by de novo pathogenic variants of the AHDC1 gene. It was first described in 2014 and has few reported cases with several different variants, reflecting the extensive clinical variability of the syndrome. Additionally, most of the syndrome's pathological mechanisms are still …
About 1% of the world's population has intellectual disability (ID), a condition that results in an important socioeconomic impact. ID is characterized by reduced ability to understand new information, learn skills and develop basic activities autonomy. When other phenotypes occur simultaneously, ID is classified as syndromic, which is often monogenic in origin. There are still gaps in th…
(Only some records are available in English at this moment)
In my postdoctoral project, one of the objectives is to investigate the splice site variant c.328+2T>G in the EHMT2 gene, identified in homozygosity in a patient with syndromic intellectual disability. We found that the patient presents an epigenetic signature compatible with that validated for patients with pathogenic variants in EHMT1 (Kleefstra syndrome 1). Using RNAseq, we identified …
We present an internship BEPE proposal for studying morphological alterations during early development using a zebrafish model for Xia-Gibbs Syndrome (XGS). XGS is a rare neurodevelopmental disorder linked to mutations in the AHDC1 gene. The study aims to understand how these mutations affect development, using zebrafish due to its genetic and developmental similarity to humans. A zebrafi…
X chromosome inactivation (XCI) is an epigenetic process occurring in early stages of embryonic development in female mammals, which randomly silences one of the two X chromosomes to ensure sex dosage compensation. This process is initiated at the X-inactivation center (XIC) of the future inactive X chromosome (Xi), a regulatory locus of the X chromosome. The XIC contains several non-codi…
Hepatoblastoma is the most common liver cancer in childhood. These hepatic embryonal tumors exhibit the lowest mutational burden among pediatric tumors, raising the question if epigenetic changes could be relevant players in their tumorigenesis. We previously disclosed a pattern of low-level hypomethylation in non-repetitive sequences of hepatoblastomas in comparison to control liver tiss…
Germinative changes in genes predisposing to cancer may anticipate the age of onset of tumor involvement, and it has been estimated that between 25 and 30% of pediatric tumors can be associated with inherited or new genetic constitutive causes. Recently, Zhang et al (2016) reported germline mutations in cancer-predisposing genes in 8.5% of the children and adolescents with cancer; strikin…
| 1 / 1 | Ongoing grants |
| 10 / 9 | Completed research grants |
| 6 / 6 | Ongoing scholarships in Brazil |
| 16 / 14 | Completed scholarships in Brazil |
| 2 / 2 | Ongoing scholarships abroad |
| 3 / 3 | Completed scholarships abroad |
| 39 / 36 | All research grants and scholarships |
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