Assistant Professor at the Department of Genetics and Evolutionary Biology, Institute of Biosciences, USP. Graduated in Biological Sciences by the University of São Paulo (1993), master's degree (1996) and doctorate (2001) in Genetics at USP. Post-doctorate developed at the Center for Studies on the Human Genome, Area of #8203;#8203;Human Genetics and Cytogenetics. Research interests: relationship between chromosomal rearrangements and phenotypes; genetics of intellectual disability; cancer predisposition; investigation of genetic and epigenetic mutations in pediatric cancer. (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…
The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cell research, both as a too…
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)
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…
The identification of mutational signatures patterns in the tumor genome provides crucial data for the genetic landscape of cancer, in addition to the detection of potential endogenous and environmental factors associated with tumorigenesis. Previously, our research group identified in hepatoblastomas (HBs) an enrichment of the COSMIC signature SBS29, known to be derived from tobacco. Exp…
X chromosome inactivation (XCI) takes place during early stages of embryonic development in female mammals, resulting in random silencing of one of the two X chromosomes. Inactivation is initiated at the X-inactivation centre (XIC) within the future inactive X chromosome (Xi). The XIC houses, among other non-coding RNA genes, the XIST gene. The XIST transcript coats the future Xi, inducin…
(Only some records are available in English at this moment)
Microcephaly and macrocephaly are pathological phenotypes mainly resulting from changes in cranial size/volume. These changes may be a consequence of environmental factors, such as intrauterine or congenital infections, teratogenic exposures or vascular injuries, as well as driven by genetic causes, which include mutations in single genes, copy number variations (CNVs), and major structur…
Pediatric cancer presents a low incidence when compared to the cancer that develops in adults, presenting great differences regarding its biology and the causes that lead to its emergence, as the smaller involvement of environmental risk factors and short temporal window for its development. Hepatoblastoma is an embryonic liver tumor that develops in the first years of life, with liver ca…
(Only some records are available in English at this moment)
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…
| 2 / 2 | Ongoing research grants |
| 10 / 9 | Completed research grants |
| 6 / 6 | Ongoing scholarships in Brazil |
| 13 / 11 | Completed scholarships in Brazil |
| 2 / 2 | Completed scholarships abroad |
| 33 / 30 | All research grants and scholarships |
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CV Lattes
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