CV Lattes
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Universidade de São Paulo (USP). Instituto de Biociências (IB) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Biologist with a Bachelor of Science degree (2017) and PhD in Genetics (2024) from Institute of Biosciences, University of São Paulo. Since 2014, works with Human and Medical Genetics in the Developmental Genetics Laboratory at Human Genome and Stem Cell Research Center (IB-USP), under the supervision of Dr. Maria Rita Passos-Bueno, studying craniofacial disorders. (Source: Lattes Curriculum)
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Treacher Collins Syndrome (TCS) is a rare craniofacial disorder mainly characterized by hypoplasia of the facial bones, cleft palate and ear abnormalities. Most of the cases (~93%) are caused by mutations in gene TCOF1. Although intra and interfamilial clinical impairment with grand levels of variability is observed, the etiological mechanisms are still unknown. Several studies using anim…
Richieri Costa-Pereira Syndrome (RCPS) is an autossomal-recessive acrofacial dysostosis, characterized by several craniofacial anomalies, including midline cleft mandible, micrognathia among others, and limb defects. RCPS patients can also show intellectual disability and speech impairment. Our group has demonstrated that mutations in EIF4A3, mainly expansion at its promoter, cause RCPS. …
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…
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