| Grant number: | 16/50324-5 |
| Support Opportunities: | Regular Research Grants |
| Start date: | May 01, 2017 |
| End date: | April 30, 2019 |
| Field of knowledge: | Biological Sciences - Genetics - Human and Medical Genetics |
| Agreement: | University of New South Wales |
| Mobility Program: | SPRINT - Projetos de pesquisa - Mobilidade |
| Principal Investigator: | Andréa Laurato Sertié |
| Grantee: | Andréa Laurato Sertié |
| Principal researcher abroad: | Irina Voineagu |
| Institution abroad: | University of New South Wales (UNSW) , Australia |
| Host Institution: | Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE). São Paulo , SP, Brazil |
| City of the host institution: | São Paulo |
| Associated research grant: | 15/50138-4 - Elucidating the role of the innate immune complement pathway in brain development and in Autism Spectrum Disorders, 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, through the analysis of iPSC-derived neuronal cells from patients harbouring variants in genes related to this system. Dr. Voineagu's lab has been studying transcriptome changes in human brain tissue of Rett syndrome cases and identified an upregulation of genes involved in the complement pathway. Thus, through a series of exchange activities, we aim to share our different expertise's and data, which will enable a deeper investigation of the specific questions of each proponent, it will contribute for other ongoing projects in both labs, thereby helping to create basis for a long term partnership. (AU)
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