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Identification and characterization of novel genes/mutations causing retinal degeneration in Bulgarian patients
Bulgaria (AMSB) - Medical University of Sofia, Sofia
Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University of Sofia,
Academician Prof. Vanio Mitev, MD, PhD, DSc
Kunka Kamenarova, PhD
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Affected individuals from retinal degeneration ( RD) suffer from a progressive degeneration of the information about the project itself) (min. 10 lines, max. 20 lines) photoreceptors, that result in severe vision impairment and blindness. The project focuses on the unique collection of well-characterised large Bulgarian RD pedigrees with multiple affected, suitable for genome analysis. Preliminary studies show that most likely the disease in some families from this collection is not linked to any of the known RD loci and a novel gene could be found in them. A range of latest techniques such as targeted next-generation sequencing will be applied to screen for mutations in all known disease genes. Next stage may include total genome scan and linkage analysis in families where the disease variation has not been found. An additional approach of our study is to use whole exome sequencing which in combination with bioinformatics analysis, we believe, will allow identification of the pathogenic variants, leading to RD.
What is the aim of the project?
To identify novel disease genes/gene mutations in Bulgarian patients affected by retinal dystrophy using modern technologies for exome analysis, and to study the impact of mutations on protein function in the retina.
What techniques and methods are used?
Deoxyribonucleic Acid (DNA) sequencing (using direct sequencing method and next-generation sequencing), bioinformatics analysis of Next Generation Sequencing (NGS) data, linkage analysis
What is the role of the student?
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student will be expected to take active part in the research project. This will include: - review of the literature on his/her own, - participation in scientific discussions and seminars, - lab work (including DNA preparation, polymerase chain reaction, agarose electrophoresis, Sanger sequencing, next- generation sequencing, etc. ) and analysis of the results under supervision. - written report and oral presentation on the objectives, methodology and results of the student’s work.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Preliminary introduction to the project’s goals and methodology as well as hands- on training will be provided by the tutor(s).
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 scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
The student would need to have taken university level courses in genetics and biochemistry and/or molecular biology. Good command of the English language is a must, as well as basic computer skills (Windows OS, Microsoft Office – Word, Excel, Power Point). Experience with the most common molecular biology databases, e.g. PubMed, Online Mendelian Inheritance in Man (OMIM), The Exome Aggregation Consortium (ExAC) and Ensembl, is a plus. Subjects passed: university level courses in genetics and biochemistry and/or molecular biology Previous experience with: DNA molecular analyses and techniques
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Pre-Medical students from the American-British system - Students in biomedical fields
- Kamenarova K; Cherninkova S; Romero Duran M; Prescott D; Valdes Sanchez ML; Mitev V; Kremensky I; Kaneva R; Bhattacharya SS; Tournev I; Chakarova C: A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. Eur J Hum Genet 2012.
- Michaelides M; Hardcastle AJ; Hunt DM; Moore AT: Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis. Surv Ophthalmol 2006;51:232-258.
- Masland RH: The fundamental plan of the retina. Nature Neuroscience 2001;4:877-886.
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