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Universidade de São Paulo (USP). Instituto de Biociências (IB) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Laura Machado Lara Carvalho in research grants and scholarships supported by FAPESP.
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About 1% of the world's population has intellectual disability (ID), a condition that results in an important socioeconomic impact. ID is characterized by reduced ability to understand new information, learn skills and develop basic activities autonomy. When other phenotypes occur simultaneously, ID is classified as syndromic, which is often monogenic in origin. There are still gaps in th…
Syndromic Obesity is a rare pathology of great phenotypic variability, which is defined by the association of obesity with one or more of the following characteristics: neuropsychomotor developmental delay, dysmorphic features and/or congenital malformations. Unfortunately, most cases of Syndromic Obesity do not have their genetic origin elucidated. Objectives: Identify candidate genetic …
In my postdoctoral project, one of the objectives is to investigate the splice site variant c.328+2T>G in the EHMT2 gene, identified in homozygosity in a patient with syndromic intellectual disability. We found that the patient presents an epigenetic signature compatible with that validated for patients with pathogenic variants in EHMT1 (Kleefstra syndrome 1). Using RNAseq, we identified …
| 2 / 2 | Completed scholarships in Brazil |
| 1 / 1 | Ongoing scholarships abroad |
| 3 / 3 | All Scholarships |
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