Andréa Laurato Sertié

• Abstract

  One of the greatest challenges in autism spectrum disorder (ASD) research is to identify the combinations of genetic variants required for determining disease causality and understand how the risk variants interact and converge on causative neurobiological pathways. Recently, through whole-exome sequencing (WES) of 291 Brazilian individuals with ASD and their parents, we identified in one…

  Investigation of the molecular and cellular mechanisms of oligogenic inheritance in Autism spectrum disorder, AP.R

• Abstract

  Recent whole-genome-based analyzes have revealed a large number of potentially deleterious genetic variants in patients with Autism Spectrum Disorder (ASD), most of them rare and private. One of the major current challenge is to determine which of these variants are involved in the etiology of the disease and how many variants are required for the complete penetrance of the disorder in ea…

  Functional analysis of rare genetic variants in Autism Spectrum Disorder: an oligonenic mode of inheritance?, AP.R

• Abstract

  We propose to combine the complementary expertise of our labs in cellular reprogramming and exome sequencing (Sertié's group) and transcriptome sequencing co-expression network reconstruction (Voineagu lab) to investigate convergent pathophysiology of non-syndromic ASD and Rett syndrome. Dr. Sertie's group is studying the possible role of the complement system in the etiology of ASD, thro…

  Gene expression analysis on in vitro neuronal models and post-mortem brain tissues to understand Autism Spectrum Disorder, AP.R SPRINT

(Only some records are available in English at this moment)

• Abstract

  Maternal immune activation (MIA) has emerged as an important environmental risk factor for Autism Spectrum Disorder (ASD). Animal models of MIA have suggested that after an infection and immune activation during pregnancy, maternal proinflammatory cytokines can cross the placenta and impact fetal brain development. Among them, interleukin 17a (IL-17a) has been shown to play an etiological…

  The role of interleukin IL-17a in the induction of reactive astrocytes derived from individuals with autism spectrum disorder, BP.MS

• Abstract

  The Complement System (CS) consists of a set of circulating and cell membrane proteins that play essential roles in the body's defense against pathogens and tissue injury. In addition, in recent years, several studies have shown that CS proteins also play important roles in brain development and plasticity, both under normal physiological circumstances and after an insult, such as inflamm…

  The role of complemente componente C4 on human astrocyte functions, BP.MS

• Abstract

  Recent genomic studies have revealed that the genetic architecture of Autism Spectrum Disorder (ASD) is extremely complex and heterogeneous, and that a portion of patients may carry rare and deleterious variants in two or more risk genes, in an oligogenic inheritance model. Furthermore, a negative correlation was observed between the number of risk variants and the patients' intelligence …

  Study of molecular and cellular mechanisms involved in the oligogenic inheritance of Autism Spectrum Disorder, BP.DR

(Only some records are available in English at this moment)

• Abstract

  Autism Spectrum Disorder (ASD) has a complex genetic architecture, with some patients carrying rare, deleterious variants in multiple risk genes, suggesting oligogenic inheritance. However, little is known about how these variants interact and converge on causative neurobiological pathways. Recently, we have identified in one Brazilian proband with ASD and macrocephaly, referred to as F26…

  Pooled CRISPRa/i Screening for Neurodevelopmental and Autism Gene Analysis, BE.EP.DR