Poslední úprava: HABET (31.01.2014)
Syllabus - Examination Methods in Medical Genetics
Topics:
Brief overview of formal genetics and cytogenetics - genome and phenome, genotype and phenotype, chromosomes and chromosomal aberrations
Introduction to medical genetics, key discoveries and milestones of medical genetics; medical genetics in the post-genomic era
Genetic counseling unit, its basic activities and cooperation with other clinical departments, ethical and legal issues of genetic counseling, current problems of medical genetics - seminar with a physician - specialist in genetic counseling
From symptoms to syndromes - how to examine a patient and indicate cytogenetic or molecular genetic examination; interesting case studies in medical genetics
Medical genetic lab, its equipment, the most serious health hazards
Diagnostic tools and basic techniques in medical cytogenetics, banding methods, karyotyping
Modern molecular cytogenetic methods (FISH, MLPA, arrayCGH), their application in clinical genetics
Mosaic findings in clinical genetics - their consequences, diagnostic possibilities and limitations, and interpretation problems (e.g. on mosaic forms of Turner's syndrome)
Examination methods in oncogenetics and oncocytogenetics
The most important information sources in medical genetics and cytogenetics
How to publish scientific reports in medical genetics
Practical activities:
Observation and determination of human chromosomes
Seeing a molecular cytogenetic lab - demonstration of fluorescent microscope
Demonstration of the basic FISH and M-FISH analysis
