Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society

• Grant number: 19/26780-9
• Support Opportunities: Research Projects - Thematic Grants
• Duration: December 01, 2021 - November 30, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Berenice Bilharinho de Mendonça
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Pesquisadores principais: Luciani Renata Silveira de Carvalho ; Sorahia Domenice ; Tania Aparecida Sartori Sanchez Bachega
• Associated researchers: Ana Cristina Victorino Krepischi ; Elaine Maria Frade Costa ; Gil Guerra Júnior ; Mariana Camargo Maschietto ; Mariana Ferreira de Assis Funari ; Mirian Yumie Nishi ; Monica Malheiros França ; Nathalia Lisboa Rosa Almeida Gomes ; Rafael Loch Batista ; Vinicius Nahime de Brito
• Associated grant(s): 21/15079-8 - Multi-user equipment approved in grant 2019/26780-9 - nextseq 2000 sequencer e infinium hd starter kit, AP.EMU
• Associated scholarship(s): 23/09534-0 - Use of Zebrafish (Danio rerio) as an animal model to elucidate the functional effect of allelic variants identified in patients with differences in sexual development, BP.PD; 22/06089-2 - COMPARISON OF THE GLOBAL METHYLATION PROFILES OF PATIENTS WITH SILVER-RUSSELL SYNDROME AND SMALL FOR GESTATIONAL AGE BORN WITH AND WITHOUT ATYPICAL GENITALY, BP.DR; 22/08852-5 - Molecular and Epigenetic Investigation of Differences in Sexual Development (DSD): Impact of Scientific Dissemination on the Relationship between Science and Society., BP.JC

Abstract

Differences of Sex Development (DSD) represent a set of congenital diseases in which the development of chromosomal, gonadal, or anatomical sex is atypical. Current knowledge allows molecular diagnosis in only about 50% of patients. New mechanisms of gene regulation are emerging in novel causes of DSD and explaining different phenotypes caused by the same gene mutation. The identification of the molecular causes of DSDs increases the knowledge of gonadal determination mechanisms. In this project, we will use new resources to address the human genome in order to (1) identify new candidate genes as the cause of 46, XY DDS and 46, XX DDS by sequencing the entire exome; (2) to investigate the role of epigenetic mechanisms (methylation and miRNA) in the etiology and phenotype modulation of patients with DSD 46, XX and 46, XY. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

RAFAEL LOCH BATISTA; MARLENE INÁCIO; VINICIUS NAHIME BRITO; MARIA HELENA PALMA SIRCILI; MIN JEONG BAG; NATHÁLIA LISBOA GOMES; ELAINE MARIA FRADE COSTA; SORAHIA DOMENICE; BERENICE BILHARINHO MENDONCA. Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development. Clinics, v. 78, 2023-05-19. (19/26780-9)