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Molecular genetics of rare diseases, rare cancer and of developmental delay
Czech Republic (IFMSA CZ) - Charles University, 2nd Medical Faculty, Prague
Department of Biology and Medical Genetics, 2nd Faculty of Medicine in Prague
Prof. Milan Macek jr., MD., DrSc.
Prof. Ing. Zden
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Students will be trained in the field of genetic counselling and molecular genetic diagnostics of rare disorders. The main aim of this exchange project is to demonstrate the utility of rare diseases as models of genomic / personalized medicine and to familiarize applicants with basic molecular genetic / genomic technologies and their role in medicine. We would like to point out that the name of the project lists subjects of interest of our department. To avoid misunderstanding we want to precede that student will not choose one subject of his choice, though he will gain experience and practical skills in subjects listed above. Topics offered - Genetics in medicine and Genetic counselling, Clinical and molecular cytogenetics, DNA diagnostics, Molecular diagnostics of cystic fibrosis, Molecular diagnostics in autism spectrum comprising disorders and intellectual disability.
What is the aim of the project?
Introduction of medical students to the key concepts of clinical genetic counselling in medical genetics and to genetic / genomic diagnostics on an example of selected group of rare diseases
What techniques and methods are used?
DNA diagnostics in rare diseases Next generation sequencing Genomic bioinformatics Molecular cytogenetics – array CGH 3D facial scanning in clinical dysmorphology
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
Role of the student is working under the supervision of the researcher on a given project. Active participation in diagnostics, initially started by mentor “shadowing”
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Internal seminars (weakly) focused on the topic theory and interpretation of experimental results. No - since during summer there are no courses, but during the academic year this is possible with the foreign student class of the 2nd Faculty of Medicine of Charles University in Prague. • Internal seminars (weakly) focused on the topic theory and interpretation of experimental results. Could be arranged on an ad hoc basis during summer period • Final presentation of the results by SCORE student could be arranged on an ad hoc basis during summer period. This very much depends on the interest of the student, on the topic and project duration so that meaningful results are presented.
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
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Passed course in medical genetics. Minimal biological or related knowledge is required. Basic knowledge of medical genetics, molecular genetics and their role in medicine.
Are there any legal limitations in the student’s involvement
Confidentiality of patient clinical and laboratory data according to Acts 372/2011Coll and Art 28-29 Act 373/2011Coll.
Type of students accepted
This project accepts: - Medical students - Pre-Medical students from the American-British system
- Dorian J. Pritchard; Bruce R. Korf B. Medical Genetics at a Glance 3rd Edition; Wiley- Blackwell; ISBN-13: 978-0470656549; 201
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