Andréa Laurato Sertié in research grants and scholarships supported by FAPESP.
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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…
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…
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…
This proposal is aimed to further characterize this important pathway in the developing brain and to understand how it is involved in ASD. The specific objectives include: 1) Further analyze and characterize the complement pathway in the developing brain using mouse models; 2) Expand and validate ASD related variants in the complement pathway; 3) Focus on specific ASD related potentially …
(Only some records are available in English at this moment)
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…
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 …
Autism Spectrum Disorder (ASD) is a neurodevelopmental disease characterized by deficits in social communication and interaction, as well as by repetitive and stereotyped behaviors. In most cases, the cause of ASD is not completely understood, but it is commonly associated with heterogeneous genetic and environmental backgrounds. Among the most important environmental risk factors for ASD…
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairment in reciprocal social communication, restricted repetitive and stereotyped patterns of behavior. Recent genomic studies have revealed that the genetic architecture of ASD is extremely complex and heterogeneous, and both rare and common genetic variants may contribute to its etiology. However, most …
Collybistin and gephyrin are key proteins implicated in inhibitory synapse development and plasticity that cluster and localize inhibitory neurotransmitter receptors to the neural postsynaptic membrane. Loss of function mutations of collybistin and gephyrin have been identified in patients with neurological diseases such as mental retardation, epilepsy and autism. We have recently reporte…
| 1 / 1 | Ongoing research grants |
| 9 / 8 | Completed research grants |
| 2 / 2 | Ongoing scholarships in Brazil |
| 7 / 3 | Completed scholarships in Brazil |
| 19 / 14 | All research grants and scholarships |
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