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Analysis of Deoxyribonucleic Acid (DNA) variants involved in human ophthalmic diseases
Brazil (IFMSA-Brazil) - Centro Universitario UNIFACISA, Campina Grande
Department of Medical Genetics, Avenue Argemiro de Figueiredo, 1901 - Itararé, Campina Grande - PB, 58411-020
Dr. Bruno Luiz Fonseca Schamber-Reis
Dr. Bruno Luiz Fonseca Schamber-Reis
English, Spanish and Portuguese
Type of Research Project
- Basic science
What is the background of the project?
The objective of the project is to search for and study genetic polymorphisms that could be involved in development of ophthalmic diseases in humans, specially keratoconus, a common condition that leads to corneal dysplasia and vision impairment. Our strategy is based on a candidate gene approach, which selection of genes previously described in the literature as supposedly involved in development of the disease. Methodology involve Deoxyribonucleic Acid (DNA) extraction from cohort members and direct sequencing of exonic regions from these genes. Sequences obtained are compared with a normal sequence, and detected variants are analysed by bioinformatic tools to evaluate their impact on protein folding and strucute, as well as populational incidence of the variants.
What is the aim of the project?
The aim of the project is to study genetic polymorphisms that could be involved in development of ophthalmic diseases in humans.
What techniques and methods are used?
Techniques involve DNA extraction, DNA purification and quantification; polymerase chain reaction for exonic amplification; PCR purification and quantitation; DNA fragment analysis on agarose and acrylamide gels; assembling of sequencing reactions; analysis of obtained chromatograms; variant analysis using several online bioinformatic tools (Polyphen, SIFT, PMUT).
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks of the student will be performed on his/her own
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student is supposed to perform DNA extraction, PCR amplification and prepare sequencing reactions to verify possible variants in selected genes possibly involved in keratoconus. The proponent will follow and learn, with other students, basic techniques for DNA analysis. In addition, the student will learn basic sequence manipulation retrieved from genome databases and online tools for sequence comparison and other analysis.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a poster - The student will prepare a presentation - The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Use laboratory glassware, in addition to pipettes. It is suggested the student study previously DNA extraction and PCR and electrophoresis.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
- Bonis et al.; Mutational screening of VSX1; SPARC; SOD1; LOX; and TIMP3 in keratoconus. Molecular Vision 2011; 17:2482-2494
- Moschos et al.; Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus. Ophthalmic Genetics; Early Online; 1–5; 2013
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