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Clinical and laboratory genetic testing for

Name of the Research Project


hereditary disorders

University Lithuania (LiMSA) - Vilnius University, Vilnius

Center for Medical Genetics, Vilnius University


Department
Hospital Santaros Klinikos

Medical Domain Medical Genetics and Genealogy

Type of Research Project Clinical Research with Laboratory Work

Type of Research Exchange Research Internship

Assoc. Prof. Laima Ambrozaitytė, PhD , Prof.


Tutor(s)
Algirdas Utkus, MD, PhD

Students can be accepted for 4 weeks

Working hours per day 6 hours

March,
Project is available during the following
July,
months
August
The project comprehends prenatal and
postnatal genetic counseling and laboratory
cytogenetic, biochemical and molecular genetic
testing of patients with hereditary disordersand
their family members. Genetic counseling
sessions include genealogy data collection and
Background of the project
detailed phenotyping, differential diagnostics of
different hereditary entities. Laboratory genetic
occupation involves different methods as wellas
analysis of unique cases and results
interpretation. All steps of the process included
analysis of scientific literature and dataanalysis.

Overview of the prenatal and postnatal genetic


counseling process, counseling by a medical
Aim of the project psychologist of patients with suspected and (or)
confirmed hereditary diagnosis, including
aspects of genetic laboratory testing.

Genetic counseling, genealogy construction,


phenotyping, strategies of genetic testing,
techniques of laboratory genetic tests –
cytogenetic, biochemical, molecular genetics,
Techniques & Methods of the project
analysis and interpretation of genetic tests
results, evaluation of patients with (possibly)
pathogenic genome variants, DNA extractions,
PCR, real-time PCR, blood samples.

The student will mainly observe Yes

The student will observe the practical


experiments but will be highly involved in the Yes
analysis of the results
Regarding lab work, the student will take
active part in the practical aspect of the Yes
project

The student will take active part in the


Yes
clinical examination of patients

The student is allowed to work with the


Yes
patient

The tasks of the student will be performed


Yes
on his/her own

The tasks will be done under supervision? Yes

Student is expected to attend lab work every


day (6 hours per day and 5 days per week, if
tutor doesn't ask otherwise) , strictly follow
tutors orders and show genuine interest for the
What are the tasks expected to be project. Tutor might give some articles to read
accomplished by the student? before starting practical tasks. They expect
student to already know how to behave in the
lab, but if not the tour will be given and all
techniques will be explained. No scientific
report is required, but very encouraged.

Will there be any theoretical teaching


provided for the student (preliminary Yes
readings, lectures, courses, seminars)?

Yes, student will be provided with theoretical


Description of the theoretical teaching
teaching about the project.

Is any scientific outcome expected at the


No
end of the exchange?

Scientific outcome required


We expect that the student will attend at least
What skills are required of the student? Is
80% of the research exchange, be responsible
there any special knowledge or a certain
level of studies needed? for his/her actions at the practice and be
accountable to the supervisor and LORE/NORE.

Are there any legal limitations in the


No
student’s involvement?

Legal limitations

Accepted languages English

Other languages

Medical students,
Students accepted to the project
Students in biomedical fields

- Arūnas Valiulis; Algirdas Utkus; Rimantas


Stukas; Algirdas Valiulis; Introducing standards
of the best medical practice for patients with
Articles inherited alpha-1-antitrypsin Deficiency in
Central Eastern Europe. Prilozi; 2014;35(1):106-
113; ISSN 0350-1914. - Baronas K; Rančelis T;
Pranculis A; Domarkien

Special Remarks

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