Bachelor of Science in Biological Sciences from the Institute of Biosciences of the University of São Paulo (IB-USP). Completed two years of and undergraduate research internship (FAPESP grant for 1.5 years) at the Human Genetics Laboratory (LGH) of IB-USP. Currently pursuing a PhD at LGH/IB-USP with a project on cellular models for Xia-Gibbs syndrome, a rare form of syndromic intellectual disability (CAPES grant), under supervision of Dra. Ana Cristina Victorino Krepischi and co-supervisor Dra. Laura Machado Lara Carvalho and Dra. Luciana Amaral Haddad. Her main area of interest is the development of cellular models for neurogenetics studies. (Source: Lattes Curriculum)
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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 …
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