| Course title | Rare Diseases - Cases from Genetic Clinic |
|---|---|
| Course code | LGE/VC021 |
| Organizational form of instruction | Seminar |
| Level of course | Master |
| Year of study | 4 |
| Semester | Winter and summer |
| Number of ECTS credits | 1 |
| Language of instruction | Czech |
| Status of course | Optional |
| Form of instruction | Face-to-face |
| Work placements | This is not an internship |
| Recommended optional programme components | None |
| Course availability | The course is available to visiting students |
| Lecturer(s) |
|---|
|
| Course content |
|
Examples of specific diseases will be used to demonstrate the most common diagnostic strategies. The students will learn about the possibilities of use of the European portal Orphanet, of the world-wide database of heritable diseases OMIM, about the most prominent databases of genetic variants HUGO, ClinVar, about the European association of rare disease patients Eurordis and its Czech national branch ČAVO. The course will include persentation / discussion with selected patients who live with their rare disease.
|
| Learning activities and teaching methods |
| Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Demonstration, Activating (Simulations, Games, Dramatization) |
| Learning outcomes |
|
The aim of the course is to expand the knowledge of medical genetics on selected case studies of rare diseases in students who have shown interest in the field. Genetic counseling is very specific in terms of the potential impact of a genetic disease diagnosis on the proband and his/her family. Genetic testing may be performed as diagnostic, familial, predictive, or perhaps also as preconception. These are very different from the perspective of the consulting physician and emphasize close interdisciplinary collaboration, which should be moderated by a medical geneticist.
The students will learn that besides proper diagnostics and therapy, medicine of rare diseases includes a wide range of further aspects - all that can be described as "complex care". The patients have a substantial role: their needs and possibilities to share with their peers information about their disease as well as their motivation to participate in development of diagnostics and care of their disease are important for their understanding of their disease and for rational planning of their lives. |
| Prerequisites |
|
Basic understanding of the diagnostic process (at least on the level of Internal or Paediatric Propaedeutics), basic skills with information retrieval from the Internet (as e.g. Medline), basic knowledge of inheritance mechanisms.
LGE/VC012 ----- or ----- LGE/VC041 |
| Assessment methods and criteria |
|
Dialog, Seminar Work
Active participation. |
| Recommended literature |
|
| Study plans that include the course |
| Faculty | Study plan (Version) | Category of Branch/Specialization | Recommended semester | |
|---|---|---|---|---|
| Faculty: Faculty of Medicine and Dentistry | Study plan (Version): - (2021) | Category: Medical sciences | 4 | Recommended year of study:4, Recommended semester: Winter |
| Faculty: Faculty of Medicine and Dentistry | Study plan (Version): - (2025) | Category: Medical sciences | 4 | Recommended year of study:4, Recommended semester: Winter |