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Translacional bigenomics investigation in Lebers hereditary optic neuropathy: genothype-phenotype correlation
Portugal (PorMSIC) - University of Coimbra, Coimbra
Biochemical Genetics Laboratory Polo III ? Subunidade I de Ensino, 2
Manuela Grazina and team
English (knowledge of Portuguese is appreciated)
Type of Research Project
- Basic science
What is the background of the project?
Lebers hereditary optic neuropathy (LHON, ORPHA104, MIM#535000) is a maternally inherited mitochondrial disorder characterized by retinal ganglion cell degeneration leading to optic atrophy, acute onset central bilateral visual loss and blindness, particularly affecting young adult males. LHON is by far the most common mitochondrial genetic disease, prevalence is not well known. but is estimated as 1:15,000 ? 1:50,000 worldwide. The epidemiology of LHON is still unknown in Portugal. Through the investigation of the interaction of the two genomes, transcripts and proteins related to OXPHOS function), we aim to clarify the disease etiology and will employ the ultimate technology with the potential for being used in clinical settings, having a major impact in the future research of other diseases.
What is the aim of the project?
The aim of this project is to Identify mtDNA mutations and haplogroups, in LHON patients. Translational data correlation with genotype-phenotype evaluation and assessment of clinical impact of results.
What techniques and methods are used?
Spectrophotometry, cell culture, western blotting, Polymerase Chain Reaction (PCR), real time Polymerase Chain Reaction (RT PCR), DNA sequencing, DNA electrophoresis
What is the role of the student?
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
__The student will have the opportunity to practice different lab techniques ( Spectrophotometry, cell culture, western blotting, PCR, RT PCR, DNA sequencing, DNA electrophoresis). In the beginning, he will practice under supervision, but according to his progress he may perform them alone. It is expected that the students integrate in the research team with a positive and responsible attitude. We will try to make their stay in our lab as much useful as possible.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes. Preliminary readings, lectures, scientific papers and chapters. Seminar in biosafety.
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 presentation
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Previous experience with: preparation of solutions and pipeting, including micropipettes, pH concepts, and contact with laboratory materials.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
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