Frequency and mutational spectrum of Low-Density Lipoprotein Receptors (LDLR) in patients with familial hypercholesterolemia
Bulgaria (AMSB) - Medical University of Sofia, Sofia
Department of Medical Genetics
Prof. Draga Toncheva
4 weeks
Cities/Months Jan Feb Mar Apr May Jun Jul Augt Sep Oct Nov Dec
No Yes Yes No No No No No No No No No
Type of Research Project
- Basic science
What is the background of the project?
Cardiovascular diseases are leading cause of death in developed countries and are still associated with significant mortality rates. Modern lifestyle and the increased caloric intake pushed metabolic disorders as one of the leading contributing factors to atherosclerosis. The most common genetic disorder of lipid metabolism is due to mutations in Low-Density Lipoprotein Receptors (ca 1:500 individuals). Next-Generation Sequencing (NGS) is state-of-the-art technology that allows for rapid and thorough analysis of gene structure, enabling researchers to define the full mutational spectrum in a particular gene – benign, pathogenic mutations as well as to make genotype-phenotype correlations.
What is the aim of the project?
The project aims to establish the frequency of Low-Density Lipoprotein Receptor-mutations and their spectrum in patients with hypercholesterolemia.
What techniques and methods are used?
-Deoxyribonucleic Acid extraction by commercially available kits and standard phenol-chloroform extraction. -Next-Generation Sequencing of Low-Density Lipoprotein Receptors. -Software data analysis -Genotype-phenotype correlations
What is the role of the student?
- The student will mainly observe
What are the tasks expected to be accomplished by the student?
-Analysis of medical history -Taking part in DNA isolation -Taking part in Next-Generation -Sequencing steps -Getting familiar with NGS data analysis tools -Taking part in data software analysis -Collection of data -Interpretation of obtained results -Reading all provided scientific material -Preparing adecuately for laboratory work -Filling in logbook with accomplished tasks
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Preliminary seminar on: Nature and basic steps in next-genetarion sequencing technology
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- No specific outcome is expected
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
No specific skills are required. Diligence is expected. Subjects passed: Genetics, Medical Genetics
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts:
- Medical students
- Students in biomedical fields
- 1. Youngblom E; Pariani M; Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2016 Dec 8]. In: Adam MP; Ardinger HH; Pagon RA; et al.; editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; Seattle; 1993-2018. Available from:
- 2. Vogt A. 2015. The genetics of familial hypercholesterolemia and emerging therapies. Appl. Clin. Genet. 8: 27–36.