Study of genetic aspects of primary open-angle glaucoma by whole exome sequencing

• Grant number: 13/17958-2
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: December 01, 2013
• End date: February 01, 2018
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Paulo Vinicius Svidnicki
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated scholarship(s): 16/04454-4 - Study of genetic aspects of primary open-angle glaucoma by whole exome sequencing: extending primary proposal, BE.EP.DR

Abstract

Glaucoma is a neurodegenerative disease of multifactorial etiology that includes several eye disorders whose common features are the progressive damage of the optic nerve with vision loss. It is a major cause of irreversible blindness in the world, and primary open angle glaucoma (POAG) is the most common type of the disease. This condition is hardly detected in the beginning, because it is asymptomatic in its early phase, when the treatment prevents permanent loss of visual function. Thus, identification of genetic factors is important to help in early diagnosis and establish an appropriate clinical outcome. The use of exome has contributed to genetic diagnosis and discovery of new genes, due to the low cost compared to whole genome sequencing, its high sensitivity and specificity, and its capability of generating a large amount of information that can be useful for the understanding of the genetic aspects of this disease. In this study, we propose the search for candidate genes in two families harboring POAG, by exome analysis, using the rapid Nextera Exome Enrichment Kit ® (Illumina, Inc., San Diego, CA, USA).

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)

SVIDNICKI, PAULO VINICIUS; BRAGHINI, CAROLINA AYUMI; COSTA, VITAL PAULINO; SCHIMITI, RUI BARROSO; CABRAL DE VASCONCELLOS, JOSE PAULO; DE MELO, MONICA BARBOSA. Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients. OPHTHALMIC GENETICS, v. 39, n. 6, p. 717-724, NOV 2 2018. (09/15223-0, 13/17958-2)

Academic Publications

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

SVIDNICKI, Paulo Vinicius. Study of genetics aspects of juvenile open angle glaucoma. 2018. Doctoral Thesis - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.