Modeling Differences in Sexual Development (DSD) Using Human iPSC-Derived Gonadal Cells: Optimizing Differentiation Protocols and Investigating DHX37 Pathogenesis

• Grant number: 25/17285-5
• Support Opportunities: Scholarships abroad - Research Internship - Post-doctor
• Start date: January 12, 2026
• End date: January 11, 2027
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Juliana Moreira Silva
• Supervisor: Faranak Fattahi
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
• Institution abroad: University of California, San Francisco (UCSF), United States
• Associated to the scholarship: 24/23694-2 - DIFERENTIATION OF GONADAL CELLS FROM iPSCs TO STUDY DIFFERENCES OF SEXUAL DEVELOPMENT, BP.PD

Abstract

Differences of Sexual Development (DSD) represent a spectrum of genetic conditions involving alterations in gonadal development, often lacking defined molecular etiology. This project aims to characterize the role of the DHX37 gene in gonadal differentiation using induced pluripotent stem cells (iPSCs) and isogenic models. During the research internship abroad, a robust protocol for cell culture and iPSC differentiation into testicular cells will be implemented under the supervision of Prof. Faranak Fattahi (UCSF), an expert in cell fate and differentiation. A CRISPR-Cas9-mediated DHX37 knock-out will be generated, enabling direct functional studies. This internship is justified by the temporary unavailability of culture facilities at HCFMUSP and the specific expertise required. The results will enhance our understanding of DSD molecular mechanisms and support further developments of the project in Brazil using novel functional models.