Molecular pathogenesis and characterization of monogenic developmental diseases: a route to Translational Medicine

• Grant number: 15/21948-8
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
• Start date: November 01, 2015
• End date: January 31, 2019
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Nathalia Lisboa Rosa Almeida Gomes
• 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

Recent studies and accomplishments on monogenic diseases have served not only to alleviate the dilemma of patients with these disorders, but also have yielded valuable information on biological processes relevant to other more common conditions. However, few centers are prepared to diagnose, follow up, and investigate monogenic developmental diseases in Brazil, the largest Latin American country. The aims of our proposal are to establish large cohorts of phenotypically well-characterized patients and promote long-term follow-ups, as well as to develop a center in which new molecular techniques will allow the generation of massive, faster, more accurate and integrated genetic data, leading to the discovery of novel disease-associated genes and genetic modifiers. Moreover, this strategy will expand and optimize cost effectiveness and shorten the time for molecular diagnosis, promoting dissemination and broadening of molecular-genetic knowledge and diagnosis in medical practice. In addition, using sophisticated in vitro and in vivo genetic-based models, we plan to develop robust platforms for the elucidation of monogenic disease pathogenesis and for the identification of potentially novel therapeutic interventions. (AU)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

GOMES, Nathalia Lisboa Rosa Almeida. Novel perspectives of the genetic etiology of the 46, XY disorders of sex development. 2019. Doctoral Thesis - Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD) São Paulo.