Project title: Molecular and epigenetic investigation of differences in sexual development (DSD): impact of scientific dissemination on the relationship between science and society
Area of expertise: Large-scale sequencing of DNA from patients with phenotype of sexual development differences XX and XY without molecular diagnosis
Number of vacancies: 1
Beginning: 01/08/2023
Researcher in charge: Berenice Bilharinho de Mendonça
Deadline for registration: 06/30/2023
Location: Av. doctor Eneas de Carvalho Aguiar, 470 (FM-USP Animal Facility), São Paulo
E-mail for registration:
[email protected]Summary
Postdoctoral research project: use of zebrafish (Danio rerio) as an animal model to elucidate the functional effect of allelic variants identified in patients with 46,XX and 46,XY differences in sexual development (DSD)
Goals: Development of zebrafish models for the characterization and analysis of potentially deleterious allelic variants identified by the Sanger method or by large-scale sequencing (genome or exome study) in patients with DSD.
Specific objectives
• Large-scale sequencing of DNA from patients with phenotype of XX and XY sexual development differences without molecular diagnosis;
• Creation and maintenance of Danio rerio in the Multiuser Zebrafish at the FM-USP vivarium;
• Introduction of possibly pathogenic variants associated with the DSD phenotype, using the CRISPR/Cas9 technique in zebrafish;
• Collection of gonadal tissue samples at different stages of zebrafish development;
• RNA extraction from gonadal tissues;
• Quantitative expression of gene transcripts;
• In situ hybridization and immunohistochemistry.
Schedule of activities
• Selection of patients;
• Large-scale sequencing of DNA from patients with phenotype of XX and XY sexual development differences without molecular diagnosis;
• Optimization of protocols and introduction of potentially pathogenic variants.
The vacancy is open to Brazilians and foreigners. The selected candidate will receive a FAPESP Post-Doctoral Scholarship in the amount of BRL 8,479.20 per month and a Technical Reserve equivalent to 10% of the annual value of the scholarship to cover unforeseen expenses directly related to the research activity.
The vacancy is open to Brazilians and foreigners. The selected candidate will receive a FAPESP Post-Doctoral Scholarship in the amount of BRL 8,479.20 per month and a Technical Reserve equivalent to 10% of the annual value of the scholarship to cover unforeseen expenses directly related to the research activity.
