KLINIČKA GENETIKA

After completing the course the student will be able to: 1. Explain the organization of the human genome and the basic principles of clinical genetics and its application in modern diagnostics and therapy. 2. Recognize and describe types of hereditary diseases (chromosomal, monogenic, mitochondrial, multifactorial) and types of inheritance of monogenic diseases (autosomal-dominant, autosomal-recessive, X-dominant and X-recessive). 3. Describe and interpret the human karyotype and chromosomal aberrations using basic application of ISC Nomenclature. 4. Knows to list risk groups with a hereditary load in the population, to chose and define diagnostic methods, and to calculate the basic risks of recurrence. 5. Knows how to define and compare different types of genetic testing, argues the indications for individual genetic testing and uses available electronic databases of genetic data. 6. Knows the principles of prenatal diagnosis of hereditary diseases and knows how to state the criteria for differentiating high/low risk pregnancies, indications for invasive prenatal diagnosis and methods of invasive and non-invasive prenatal diagnosis of hereditary diseases. 7. Knows the basic principles and specifics of genetic counseling and providing genetic information and the basic bioethical principles of genetic data protection and indirect counseling.