CV Lattes
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Universidade de São Paulo (USP). Instituto de Biociências (IB) (Institutional affiliation for the last research proposal) Birthplace: Brazil
graduate at Ciencias Biológicas from Universidade de São Paulo (1988), master's at Ciencias Biologicas from Universidade de São Paulo (1983) and ph.d. at Genetics from Universidade de São Paulo (1987); Full Professor in Genetics ( 2007). She was s head of the Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo from 2009-2012. Her main research focus is in human molecular genetics, aiming to dissect the genetics of craniofacial disorders (cleft lip and palate, craniossynostoses) and of Autism. Use of induced pluripotent stem cells (iPSC) is currently being used to model craniofacial and autism in order to understand the mechanisms leading to these disorders as well as to identify new therapeutic targets that could ameliorate the progression or avoid these disorders. She also coordenates a genetic counseling service for patients with craniofacial and autism spectrum disorders. She is also the coordinator of the laboratory of molecular diagnosis at Centro de Pesquisas sobre o Genoma Humano e Células tronco (ttp://laboratorio.genoma.ib.usp.br). (Source: Lattes Curriculum)
| News published in Agência FAPESP Newsletter about the researcher |
| Study identifies group of genes with altered expression in autism |
| Brazil will have the technology to transplant pig organs into humans |
Motivated by the growing need for transplantation-available organs and the latest developments in genomic editing technologies such as the CRISPR-Cas9 system, significant progress in the efficiency and safety of xenotransplantation techniques has been achieved in the last two years. Genetically engineered pigs developed to prevent receptor hyperacute immune rejection have been successfull…
Healthy aging and longevity are a growing topic of interest. They depend on the complex interplay between nuclear and mitochondrial DNA, the environment and the microbiota, that is, the whole set of bacteria living in the different parts of our body with their whole set of genes. Understanding this complex nature versus nurture balance is one of the greatest challenges in human genetics a…
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…
This Project aims to initiate a collaborative work between Dr. Passos-Bueno's and Dr. Calcaterra's laboratories, which both are interested in understand the molecular basis of developmental pathways and disorders. In this study, the groups will investigate the role of oxidative stress (OS) and the protein CNBP in zebrafish models and in mesenchymal stem cells obtained from patients bearin…
a) Description of the Center and its characteristic features. The Center will focus on three main aspects: basic research on the human genome focusing on genetic disorders and normal population variation in different ethnic groups: A) genetic service directed to families with affected patients or ‘at-risk’ for genetic disorders. This service aims at the prevention of genetic disorders (th…
Phelan-McDermid syndrome (PMS) is a rare genetic disease characterized by global developmental delay, Intellectual Disability (ID) and Autism Spectrum Disorder (ASD), associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been described as a major cause of neurological symptoms of PMS, it cannot explain the spectrum of cl…
Autism Spectrum Disorder (ASD) is an early-onset neuropsychiatric genetic disorder that affects 1 in 54 children. Most cases of ASD are associated with a multifactorial inheritance pattern. In recent years, great clinical effect variants in many genes have been associated with ASD, but still a large percentage of cases remain without molecular diagnosis. Currently, there are at least two …
The craniofacial system development begins in the embryo with the neuroectodermal specification. This process leads to the emergence of neuroectodermal territories: the neural plate and neural plate border, which are, respectively, specified by intermediate and low levels of BMP pathway activation. It is known that the BMP pathway and the production and signalling of reactive oxygen speci…
(Only some records are available in English at this moment)
Autism spectrum disorder (ASD) is mainly characterized through: persistent deficit in social communication and interaction, repetitive and restricted patterns of behavior and interests. It is estimate that nearly 1% of global population could receive ASD diagnosis. Studies demonstrate a high genetics contribution in ASD, the heritability is about 90%. A current and important challenge in …
Orofacial clefts (OC), involving cleft lip with or without the palate (CL/P) and palate cleft only (PC) are the most common type of craniofacial malformations. Nonsyndromic OC (NS-OC) account for 70% of all cases reported, and its complex etiology remains poorly understood. The inheritance pattern is multifactorial with strong influence of genetic and environmental factors. Although linka…
Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal-recessive craniofacial disease characterized by defects of jaw fusion, micrognathia, glossoptosis, and bone anomalies. RCPS is caused by expansions in the 5'UTR region of the EIF4A3 gene, which leads to a decrease on its expression levels. EIF4A3 exerts basic cellular functions related to mRNA processing. The clinical set of RCPS …
(Only some records are available in English at this moment)
Oral clefts (OC) are a frequent group of craniofacial malformation caused by a combination of genetic and environmental factors, which may impair craniofacial development by affecting the neural crest (NC). More recently, loss-of-function mutations in genes from the cadherin-catenin complex as CDH1 (E-cadherin) and CTNND1 (p120-catenin) have been found segregating in OC families, however …
Several genomic studies are being done in Autism Spectrum Disease (ASD) aiming to understand the genetic architecture of the disorder and to identify genes and causative genetic alterations. This increase in the use of next generation sequencing techniques is demanding support of powerful computers to storage and process big data, besides specialized bioinformaticists to run tools and des…
Structural variations (InDels - Insertions or deletions smaller than 1kb, CNVs - Copy number variations) are known to be important risk factors for autism spectrum disorders (ASD); however, the contribution of small alterations (<50 kb) to the etiology of these disorders remains largely unknown. These alterations are difficult to detect, and the array comparative genomic hybridization (aC…
(Only some records are available in English at this moment)
| 3 / 3 | Ongoing research grants |
| 6 / 3 | Completed research grants |
| 11 / 11 | Ongoing scholarships in Brazil |
| 65 / 20 | Completed scholarships in Brazil |
| 6 / 6 | Completed scholarships abroad |
| 91 / 43 | All research grants and scholarships |
| Associated processes | |
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
| Publications | 4 |
| Citations | 2 |
| Cit./Article | 0.5 |
| Data from Web of Science | |
DA SILVA MONTENEGRO, EDUARDA MORGANA; COSTA, CLAUDIA SAMOGY; CAMPOS, GABRIELE; SCLIAR, MARILIA; DE ALMEIDA, TATIANA FERREIRA; ZACHI, ELAINE CRISTINA; WAHYS SILVA, ISABELA MAYA; CHAN, ADA J. S.; ZARREI, MEHDI; LOURENCO, V, NAILA C.; et al. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism Research, v. 13, n. 2, p. 199-206, FEB 2020. Web of Science Citations: 1. (13/08028-1, 17/05824-2)
SAMOGY-COSTA, CLAUDIA ISMANIA; VARELLA-BRANCO, ELISA; MONFARDINI, FREDERICO; FERRAZ, HELEN; FOCK, RODRIGO AMBROSIO; ALMEIDA BARBOSA, RICARDO HENRIQUE; SANTOS PESSOA, ANDRE LUIZ; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, NAILA; VIBRANOVSKI, MARIA; et al. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case. JOURNAL OF NEURODEVELOPMENTAL DISORDERS, v. 11, JUL 18 2019. Web of Science Citations: 1. (16/17392-7, 13/08028-1)
MASOTTI, C.; BRITO, L. A.; NICA, A. C.; LUDWIG, K. U.; NUNES, K.; SAVASTANO, C. P.; MALCHER, C.; FERREIRA, S. G.; KOBAYASHI, G. S.; BUENO, D. F.; et al. MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach. JOURNAL OF DENTAL RESEARCH, v. 97, n. 1, p. 33-40, JAN 2018. Web of Science Citations: 0. (13/08028-1)
HSIA, GABRIELLA S. P.; MUSSO, CAMILA M.; ALVIZI, LUCAS; BRITO, LUCIANO A.; KOBAYASHI, GERSON S.; PAVANELLO, RITA C. M.; ZATZ, MAYANA; GARDHAM, ALICE; WAKELING, EMMA; ZECHI-CEIDE, ROSELI M.; et al. Complexity of the 5 ` Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. FRONTIERS IN GENETICS, v. 9, APR 25 2018. Web of Science Citations: 0. (13/08028-1, 15/21781-6)
(References retrieved automatically from State of São Paulo Research Institutions)
CRUZ, Lucas Alvizi. Mecanismos genéticos e epigenéticos na etiologia das fissuras orofaciais. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (11/23653-4)
KAGUE, Erika. Estudo da regulação transcricional do COL18A1 e análise funcional do domínio Frizzled. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (05/53535-2)
BRITO, Luciano Abreu. Identificação de genes de suscetibilidade às fissuras labiopalatinas não sindrômicas: influência da epidemiologia e da estratificação populacional. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (09/04183-7)
OLIVEIRA, Daniele Yumi Sunaga de. Biologia computacional aplicada para a análise de dados em larga escala. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (08/10839-0)
RIBEIRO, Cintia Marques. Estudo de genes candidatos aos Transtornos do Espectro Autista. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (08/58829-2)
MASOTTI, Cibele. Estudo de mecanismos regulatórios e mapeamento de genes associados a malformações craniofaciais. 158 f. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (03/12187-6)
CORREA, Lúcia Maria Armelin. Estudo da região promotora do gene do colágeno XVIII humano. 156 f. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (02/01299-5)
SUZUKI, Oscar Takeo. Estudo funcional do colágeno tipo XVIII. 124 f. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (03/00820-6)
OLIVEIRA, Nélio Alessandro de Jesus. Estudo molecular das craniossinostoses sindrômicas: Crouzon, Pfeiffer e Saethre-Chotzen. 79 f. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (04/09071-9)
BRITO, Luciano Abreu. Variantes genéticas de risco às fissuras orofaciais. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (11/23416-2)
SPLENDORE, Alessandra Della Casa. Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (99/06712-3)
ORNELAS, Camila Camanzano. Estudo funcional de células mesenquimais com mutações patogênicas no TCOF1. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (07/51872-7)
TOLEDO, Rodrigo Atique Ferraz de. Estudo funcional de células derivadas do periósteo portadoras da mutação p.S252W em FGFR2: alterações fenotípicas e moleculares. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (09/03599-5)
SILVA, Carolina Malcher Amorim de Carvalho. Investigação do papel de SNVs (single nucleotide variants) na etiologia da fissura lábio-palatina não sindrômica. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (11/04260-1)
ERRERA, Flavia Imbroisi Valle. Estudo de polimorfismos em três genes relacionados à angiogênese, COL18A1, MMP2 e VEGF, em pacientes com diabetes tipo 2 e retinopatia diabética. 134 f. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (01/04757-1)
MARANDUBA, Carlos Magno da Costa. Estudo molecular do retardo mental de herança ligada ao cromossomo X. 87 f. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (03/04021-0)
TOLEDO, Rodrigo Atique Ferraz de. Identificação e análise funcional de mutação associadas às craniossinostoses. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (12/25346-4)
SILVA, Isabela Mayá Wayhs. InDels e CNVs pequenas em pacientes com Transtorno do Espectro Autista. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (14/13056-7)
SILVA, Carolina Malcher Amorim de Carvalho. Teste pré-natal não invasivo para detecção de doenças genéticas utilizando sequenciamento de nova geração. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (13/14996-0)
FANGANIELLO, Roberto Dalto. Estudo de expressão gênica e de comportamento celular em células de indivíduos portadores de craniossinostoses sindrômicas. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (04/07289-7)
KOBAYASHI, Gerson Shigeru. Análise do transcriptoma de células-tronco mesenquimais para o estudo da etiologia das fissuras lábio-palatinas não-sindrômicas. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (08/51696-7)
OLIVEIRA, Karina Griesi. Identificação de genes e vias associadas aos transtornos do espectro autista. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (08/55582-6)
YEH, Erika. Estudo da contribuição molecular e celular do periósteo na craniossinostose da síndrome de Apert. Tese (Doutorado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (06/55852-8)
ALENCASTRO, Gustavo de. Identificação e estudo funcional de genes associados com doenças neurológicas. Dissertação (Mestrado) - Instituto de Biociências. Universidade de São Paulo (USP). São Paulo. (05/59361-6)