He has a degree in Biological Sciences from the University of São Paulo (1980), a master's degree in Biological Sciences from the University of São Paulo (1983); PhD in Biological Sciences (Genetic Biology) from the University of São Paulo (1987); Full Professor of Genetics (2007). From 2009-2012 he was Head of the Department of Genetics and Evolutionary Biology, at the Biosciences Institute of the University of São Paulo. He has experience in the area of #8203;#8203;Human Genetics and Molecular Genomics, working mainly on investigations that aim to understand the genetic mechanisms of the following developmental diseases: Treacher Collins Syndrome and Cleft lip and palate. He has also dedicated himself to studies in the area of #8203;#8203;genetics/genomics of Autism. More recently, he has invested in understanding the genetic mechanisms associated with craniofacial diseases and autism, syndromic and non-syndromic forms, using induced pluripotent stem cells as the main model. He also coordinates a genetic counseling service for families of those affected by craniofacial syndromes and autism-related disorders. Coordinates the Molecular Disease Diagnosis laboratory at the Human Genome and Stem Cell Research Center (http://laboratorio.genoma.ib.usp.br). Google H-index = 74 (Source: Lattes Curriculum)
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Modernization and implementation of equipment are essential to generate results in our research so that they are internationally competitive and allow a greater chance of reproducibility. In addition to the inclusion of equipment with higher resolutions and greater versatility, it is also essential to acquire equipment that allows for faster obtaining of results. Innovative equipment comb…
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…
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…
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…
(Only some records are available in English at this moment)
TBCK (TBC1 domain-containing kinase) codes for a kinase protein allegedly associated to vesicle transport (autophagic-lysosomic pathway), cellular growth, actin cytoskeleton organization, transcriptional mTOR regulation and axonal transport of mRNA and translation machinery. Biallelic loss-of-function variants in TBCK are causative of the Infantile Hypotonia with Psychomotor Retardation a…
(Only some records are available in English at this moment)
Autism Spectrum Disorder (ASD) is characterized as a complex disorder of theearly-onset neurodevelopment. Common features like insulationsocial, narrow interests, stereotyped and repetitive behaviors are alwaysgifts. Etiological heterogeneity and complex behavioral symptomsmake it difficult to understand ASD. More than 1,000 genes have been associated with ASD, and environmental factors t…
Cleft lip and palate (CLP) are craniofacial malformations characterized by the discontinuity of lip and/or palate tissues. CLP is a multifactorial inherited disease which has been related to smoking, alcohol consumption and inflammation during pregnancy, as well as common and rare genetic variants. Our group has recently observed that pathogenic variants leading to loss of function in th…
(Only some records are available in English at this moment)
Craniofacial malformations comprise nearly one-third of all congenital birth defects and generally arise from disturbances of neural crest cells (NCCs) during the embryonic development. Treacher Collins syndrome (TCS) is a rare congenital disorder, mainly characterized by craniofacial malformations. There is no efficient treatment for TCS, especially for severely affected patients. Most o…
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…
(Only some records are available in English at this moment)
| 2 / 2 | Ongoing grants |
| 8 / 5 | Completed research grants |
| 5 / 5 | Ongoing scholarships in Brazil |
| 83 / 38 | Completed scholarships in Brazil |
| 7 / 7 | Completed scholarships abroad |
| 105 / 57 | All research grants and scholarships |
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CV Lattes
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