Molecular analysis of patients with primary ovarian failure

• Grant number: 14/12413-0
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: August 01, 2014
• End date: July 31, 2018
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Monica Malheiros França
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine, AP.TEM

Abstract

Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unidentified. In this proposal, the broad aim is to perform whole exome sequencing in DNA samples from patients with POF. We hope that this molecular approach can lead to the identification of new genes implicated in the development of POF. The blood samples that have been collected from Brazilian patients of the Hospital das Clínicas - University of São Paulo will be analyzed using the Next-Generation Sequencing (NSG) and Sanger sequencing. The functional studies will be performed using in vitro approaches such as qPCR, Luciferase assay, viability/proliferation assay. Taken together, genetic tools and molecular biology can lead to discovery and identification of new target genes which can be used to improve the POF knowledge and therapy.