Identification and functional analysis of new mutations associated to craniosynostosis

• Grant number: 12/25346-4
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: January 01, 2014
• End date: February 29, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Maria Rita dos Santos e Passos Bueno
• Grantee: Rodrigo Atique Ferraz de Toledo
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Craniosynostosis are craniofacial diseases that affect 1 for every 2500 born children. The defining characteristic of this disease is the premature ossification of 1 or more cranial sutures, leading to cranial deformities and premature fontanel closure. There currently are 16 genes associated to craniosynostosis; functional studies of these genes were responsible for elucidating mechanisms and pathways of suture patency and development. In the Center for Human Genome Studies we have access to 567 craniosynostosis patients of which 286 have no molecular diagnosis defined. In this project we intend to identify new loci associated to craniosynostosis by exome sequencing and posteriorly study in functional assays the role of these on the suture closure process.

Academic Publications

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

TOLEDO, Rodrigo Atique Ferraz de. Identification and functional analysis of mutations associated with craniosynostosis. 2016. Doctoral Thesis - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.