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

• Grant number: 16/04454-4
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate
• Start date: December 01, 2016
• End date: April 30, 2017
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Paulo Vinicius Svidnicki
• Supervisor: Janey L. Wiggs
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Institution abroad: Harvard University, Boston, United States
• Associated to the scholarship: 13/17958-2 - Study of genetic aspects of primary open-angle glaucoma by whole exome sequencing, BP.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. Primary open angle glaucoma (POAG) is the most common type of the disease, while Juvenile Open Angle Glaucoma (JOAG) is an earlier onset and more severe form of glaucoma. 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. Exome sequencing 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 are performing the search for candidate genes in two families harboring POAG and JOAG by exome analysis. We propose the internship with Dr. Janey Wiggs, from the Ophthalmology Department of Massachusetts General Hospital to improve the analysis of the families' exomes through the pipeline and knowledge of the group, besides performing Sanger sequencing in silico validation and CNV analysis. In addition, functional studies would be important to identify alleles with relevant biological effects. (AU)