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Genetic testing for Congenital Anomalies of the Kidney and Urinary tract (CAKUT) in Bulgaria
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
Head Assistant Prof. Olga Beltcheva, PhD
Type of Research Project
- Basic science
What is the background of the project?
Congenital anomalies of kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. They affect 1 in 500 live births and range from renal agenesis, to hypodysplasia, multicystic kidneys, duplex renal collecting system, megaureter, vesicoureteral reflux (VUR), etc. CAKUT may occur in isolation or as a part of syndrome accompanied by non-renal manifestations. Our aim is to study the genetic factors contributing to this condition in Bulgarian patients. This will result in improved diagnostics, genetic counselling and treatment of the affected individuals and their families.
What is the aim of the project?
To identify genes and genetic variants involved in the pathogenesis of CAKUT in the Bulgarian population.
What techniques and methods are used?
Deoxyribonucleic Acid (DNA) sequencing (using direct sequencing method and next-generation sequencing), Polymerase chain reaction (PCR), Sanger sequencing, fragment analysis, bioinformatics.
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. He will learn how to implement the main principles of common molecular biology techniques routinely used for genetic and genomic studies. It include DNA preparation, polymerase chain reaction (PCR amplification), agarose electrophoresis, Sanger sequencing, next-generation sequencing, etc. ) and analysis of the results under supervision.
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 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?
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: molecular genetic techniques and use of most common molecular biology databases, e.g. PubMed, OMIM, ExAC, Ensemble etc., is a plus
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
- Bekheimia MR et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med 2017
- Penchev V. et al. A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. Eur J Med Genet 2017
- Schedl A. Renal abnormalities and their developmental origin Nature Reviews; Genetics; 2007
- Weber S. et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study JASN 2006
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