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Clinical and laboratory genetic testing for hereditary disorders
Center for Medical Genetics, Vilnius University Hospital Santaros Klinikos
Prof. Algirdas Utkus, MD, PhD
Assoc. Prof. Laima Ambrozaitytė, PhD
English (required); Russian (accepted)
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
The project comprehends prenatal and postnatal genetic counseling and laboratory cytogenetic, biochemical and molecular genetic testing of patients with hereditary disorders and their family members. Genetic counseling sessions include genealogy data collection and detailed phenotyping, differential diagnostics of different hereditary entities. Laboratory genetic occupation involves different methods as well as analysis of unique cases and results interpretation. All steps of the process included analysis of scientific literature and data analysis.
What is the aim of the project?
Overview of the prenatal and postnatal genetic counseling process, counseling by a medical psychologist of patients with suspected and (or) confirmed hereditary diagnosis, including aspects of genetic laboratory testing.
What techniques and methods are used?
Genetic counseling, genealogy construction, phenotyping, strategies of genetic testing, techniques of laboratory genetic tests – cytogenetic, biochemical, molecular genetics, analysis and interpretation of genetic tests results, evaluation of patients with (possibly) pathogenic genome variants, DNA extractions, PCR, real-time PCR, blood samples.
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 student will mainly observe
- The tasks will be done under supervision
- If the project includes “lab work”
- the student will take active part in the practical aspect of the project
- If the project is clinical
- the student will take active part in the clinical examination
- If the project is clinical
- the student will be allowed to work with patients
- The tasks of the student will be performed on his/her own
What are the tasks expected to be accomplished by the student?
Attend to lab work every day, follow tutors' orders and be enthusiastic.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes, student will be provided with theoretical teaching about the project.
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?
We expect that the student will attend at least 80% of the research exchange, be responsible for his/her actions at the practice and be accountable to the supervisor and LORE/NORE.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Students in biomedical fields
- Arūnas Valiulis; Algirdas Utkus; Rimantas Stukas; Algirdas Valiulis; Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin Deficiency in Central Eastern Europe. Prilozi; 2014;35(1):106-113; ISSN 0350-1914.
- Baronas K; Rančelis T; Pranculis A; Domarkienė I; Ambrozaitytė L; Kučinskas V. Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort. Acta Med Litu. 2018;25(1):7-13. doi: 10.6001/actamedica.v25i1.3698.
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